Life is Precious

Health Insurance

2009-10-08T01:00:00.000-07:00

Health insurance is insurance that pays for medical expenses. It is sometimes used more broadly to include insurance covering disability or long-term nursing or custodial care needs. It may be provided through a government-sponsored social insurance program, or from private insurance companies. It may be purchased on a group basis (e.g., by a firm to cover its employees) or purchased by individual consumers. In each case, the covered groups or individuals pay premiums or taxes to help protect themselves from high or unexpected healthcare expenses. Similar benefits paying for medical expenses may also be provided through social welfare programs funded by the government.

By estimating the overall risk of healthcare expenses, a routine finance structure (such as a monthly premium or annual tax) can be developed, ensuring that money is available to pay for the healthcare benefits specified in the insurance agreement. The benefit is administered by a central organization such as a government agency, private business, or not-for-profit entity.

How it works

A health insurance policy is a contract between an insurance company and an individual or his sponsor (e.g. an employer). The contract can be renewable annually or monthly. The type and amount of health care costs that will be covered by the health insurance company are specified in advance, in the member contract or "Evidence of Coverage" booklet. The individual insurered person's obligations may take several forms:

Premium: The amount the policy-holder or his sponsor (e.g. an employer) pays to the health plan each month to purchase health coverage.
Deductible: The amount that the insured must pay out-of-pocket before the health insurer pays its share. For example, a policy-holder might have to pay a $500 deductible per year, before any of their health care is covered by the health insurer. It may take several doctor's visits or prescription refills before the insured person reaches the deductible and the insurance company starts to pay for care.
Copayment: The amount that the insured person must pay out of pocket before the health insurer pays for a particular visit or service. For example, an insured person might pay a $45 copayment for a doctor's visit, or to obtain a prescription. A copayment must be paid each time a particular service is obtained.
Coinsurance: Instead of, or in addition to, paying a fixed amount up front (a copayment), the co-insurance is a percentage of the total cost that insured person may also pay. For example, the member might have to pay 20% of the cost of a surgery over and above a co-payment, while the insurance company pays the other 80%. If there is an upper limit on coinsurance, the policy-holder could end up owing very little, or a great deal, depending on the actual costs of the services they obtain.
Exclusions: Not all services are covered. The insured person is generally expected to pay the full cost of non-covered services out of their own pocket.
Coverage limits: Some health insurance policies only pay for health care up to a certain dollar amount. The insured person may be expected to pay any charges in excess of the health plan's maximum payment for a specific service. In addition, some insurance company schemes have annual or lifetime coverage maximums. In these cases, the health plan will stop payment when they reach the benefit maximum, and the policy-holder must pay all remaining costs.
Out-of-pocket maximums: Similar to coverage limits, except that in this case, the insured person's payment obligation ends when they reach the out-of-pocket maximum, and the health company pays all further covered costs. Out-of-pocket maximums can be limited to a specific benefit category (such as prescription drugs) or can apply to all coverage provided during a specific benefit year.
Capitation: An amount paid by an insurer to a health care provider, for which the provider agrees to treat all members of the insurer.
In-Network Provider: (U.S. term) A health care provider on a list of providers preselected by the insurer. The insurer will offer discounted coinsurance or copayments, or additional benefits, to a plan member to see an in-network provider. Generally, providers in network are providers who have a contract with the insurer to accept rates further discounted from the "usual and customary" charges the insurer pays to out-of-network providers.
Prior Authorization: A certification or authorization that an insurer provides prior to medical service occurring. Obtaining an authorization means that the insurer is obligated to pay for the service, assume it matches what was authorized. Many smaller, routine services do not require authorization.
Explanation of Benefits: A document sent by an insurer to a patient explaining what was covered for a medical service, and how they arrived at the payment amount and patient responsibility amount.

Prescription drug plans are a form of insurance offered through some employer benefit plans in the U.S., where the patient pays a copayment and the prescription drug insurance part or all of the balance for drugs covered in the formulary of the plan.

Some, if not most, health care providers in the United States will agree to bill the insurance company if patients are willing to sign an agreement that they will be responsible for the amount that the insurance company doesn't pay. The insurance company pays out of network providers according to "reasonable and customary" charges, which may be less than the provider's usual fee. The provider may also have a separate contract with the insurer to accept what amounts to a discounted rate or capitation to the provider's standard charges. It generally costs the patient less to use an in-network provider.

Health plan vs. health insurance

Historically, HMOs tended to use the term "health plan", while commercial insurance companies used the term "health insurance". A health plan can also refer to a subscription-based medical care arrangement offered through HMOs, preferred provider organizations, or point of service plans. These plans are similar to pre-paid dental, pre-paid legal, and pre-paid vision plans. Pre-paid health plans typically pay for a fixed number of services (for instance, $300 in preventive care, a certain number of days of hospice care or care in a skilled nursing facility, a fixed number of home health visits, a fixed number of spinal manipulation charges, etc.) The services offered are usually at the discretion of a utilization review nurse who is often contracted through the managed care entity providing the subscription health plan. This determination may be made either prior to or after hospital admission (concurrent utilization review).

Comprehensive vs. scheduled

Comprehensive health insurance pays a percentage of the cost of hospital and physician charges after a deductible (usually applies to hospital charges) or a co-pay (usually applies to physician charges, but may apply to some hospital services) is met by the insured. These plans are generally expensive because of the high potential benefit payout — $1,000,000 to 5,000,000 is common — and because of the vast array of covered benefits.

Scheduled health insurance plans are not meant to replace a traditional comprehensive health insurance plans and are more of a basic policy providing access to day-to-day health care such as going to the doctor or getting a prescription drug. In recent years, these plans have taken the name mini-med plans or association plans. These plans may provide benefits for hospitalization and surgical, but these benefits will be limited. Scheduled plans are not meant to be effective for catastrophic events. These plans cost much less than comprehensive health insurance. They generally pay limited benefits amounts directly to the service provider, and payments are based upon the plan's "schedule of benefits". Annual benefits maximums for a typical scheduled health insurance plan may range from $1,000 to $25,000.

Pneumococcal Vaccine (PCV)

2009-10-01T01:00:00.000-07:00

The pneumococcal conjugate vaccine (PCV) protects against pneumococcal infections. The bacterium is a leading cause of serious infections, including pneumonia, blood infections, and bacterial meningitis.

Children under 2 years old, adults over 65 years old, and people with certain medical conditions are most susceptible to serious pneumococcal infections. The pneumococcus bacterium is spread through person-to-person contact. The vaccine not only prevents the infection in children who receive it, it also helps stop its spread.

Immunization Schedule

PCV immunizations are given as a series of four injections starting at 2 months of age and following at 4 months, 6 months, and 12 to 15 months. Kids who miss the first dose or may have missed subsequent doses due to vaccine shortage should still receive the vaccine, and your doctor can give you a modified schedule for immunization.

Why the Vaccine Is Recommended

The most serious infections affect children younger than 2 years old, and the vaccine will protect them when they're at greatest risk.

PCV also is recommended for kids between 2 and 5 years of age who are at high risk for serious pneumococcal infections because they have medical problems such as:

sickle cell anemia
a damaged spleen or no spleen
HIV/AIDS
cochlear implants
a disease that affects the immune system, such as diabetes or cancer
receiving medications that affect the immune system, such as steroids or chemotherapy

In addition, these high-risk children may also receive the pneumococcal polysaccharide vaccine (PPV) in addition to the PCV when they're older than 24 months.

The PCV vaccine should be considered for all other unvaccinated 2- to -5-year-olds, especially those who are under 3 years of age; are of Alaska Native, American Indian, or African American descent; or who attend group childcare centers.

Possible Risks

Children who receive the PCV vaccine may have redness, tenderness, or swelling where the shot was given. A child may also have a fever after receiving the shot.

When to Delay or Avoid Immunization

if your child is currently sick, although simple colds or other minor illnesses should not prevent immunization
if your child has had a severe allergic reaction to a previous dose of the vaccine

Caring for Your Child After Immunization

The vaccine may cause mild fever, and soreness and redness in the area where the shot was given. Depending on the age of your child, pain and fever may be treated with acetaminophen or ibuprofen. Check with your doctor to see if you can give either medication, and to find out the appropriate dose.

When to Call the Doctor

if your child missed a dose in the series
if a severe allergic reaction or high fever occurs after immunization

Hepatitis B Vaccine (HBV)

2009-09-25T01:00:00.000-07:00

Hepatitis B virus (HBV) affects the liver. Those who are infected can become lifelong carriers of the virus and may develop long-term problems such as cirrhosis (liver disease) or cancer of the liver.

Immunization Schedule

Hepatitis B vaccine usually is given as a series of three injections. The first shot is often given to infants shortly after birth. If the mother of a newborn carries the hepatitis B virus in her blood, the infant needs to receive the first shot within 12 hours after birth, along with another shot (HBIG) to immediately provide protection against the virus. If a newborn's mother shows no evidence of HBV in her blood, the infant may receive the hepatitis B vaccine any time prior to leaving the hospital. It may also be delayed until the 1- or 2- month visit to your doctor.

If the first dose is given shortly after birth, the second shot is given at 1 to 2 months and the third at 6 to 18 months. For infants who don't receive the first shot until 1 to 2 months, the second shot is given at 3 to 4 months and the third at 6 to 18 months. In either case, the second and third shots are usually given in conjunction with other routine childhood immunizations.

Why the Vaccine Is Recommended

The hepatitis B vaccine usually creates long-term immunity. Infants who receive the HBV series should be protected from hepatitis B infection not only throughout their childhood but also into the adult years. Eliminating the risk of infection also decreases risk for cirrhosis of the liver, chronic liver disease, and liver cancer. Young adults and adolescents should also receive the vaccine if they did not as infants.

Possible Risks

Serious problems associated with receiving the HBV vaccine are rare. Problems that do occur tend to be minor, such as fever or redness or tenderness at the injection site.

When to Delay or Avoid Immunization

if your child is currently sick, although simple colds or other minor illnesses should not prevent immunization
if a severe allergic reaction (called anaphylaxis) occurred after a previous injection of the HBV vaccine

Caring for Your Child After Immunization

The vaccine may cause mild fever, and soreness and redness in the area where the shot was given. Depending on the age of your child, pain and fever may be treated with acetaminophen or ibuprofen. Very young infants should not be given either medication, but for older infants or children, you can check with the doctor about the appropriate dose.

When to Call the Doctor

if you're not sure of the recommended schedule for the hepatitis B vaccine
if you have concerns about your own HBV carrier state
if moderate or serious adverse effects appear after your child has received an HBV injection

Varicella (chickenpox) Vaccine

2009-09-18T01:00:00.000-07:00

The varicella vaccine protects against chickenpox (varicella), a common and very contagious childhood viral illness.

Immunization Schedule

The varicella vaccine is given by injection between the ages of 12 and 15 months, followed by a booster shot at 4 to 6 years of age for further protection. Older kids under the age of 12 years who have not had chickenpox may also receive the vaccine, with the two doses given at least 3 months apart. Kids 13 years or older who have not had either chickenpox or the vaccine would need two vaccine doses at least 1 month apart.

Why the Vaccine Is Recommended

The varicella vaccine prevents severe illness in 95% of children who are immunized. It's up to 85% effective in preventing mild illness. Vaccinated kids who do get chickenpox generally have a mild case.

Possible Risks

Serious reactions are extremely rare. Possible mild effects are tenderness and redness where the shot was given, fever, fatigue, and a varicella-like illness. A rash can occur where the shot was given or elsewhere on the body up to 1 month after the injection. It may last for several days but will disappear on its own without treatment.

When to Delay or Avoid Immunization

if your child is currently sick, although simple colds or other minor illnesses should not prevent immunization
if your child has an allergy to gelatin or to the antibiotic neomycin that has required medical treatment
if your child has recently received gamma globulin or a blood transfusion
if your child has immune system problems related to cancer; is taking prednisone, steroids, or other immunosuppressive drugs; or is undergoing chemotherapy or radiation therapy

Caring for Your Child After Immunization

Pain and fever may be treated with acetaminophen or ibuprofen. Check with your doctor about the appropriate dose.

When to Call the Doctor

if you aren't sure if the vaccine should be postponed or avoided
if there are problems after the immunization

Influenza Vaccine

2009-09-11T01:00:00.000-07:00

Influenza, commonly known as "the flu," is a highly contagious viral infection of the respiratory tract.

Immunization Schedule

These groups, who are at increased risk of flu-related complications, should receive the flu shot every year:

all children between 6 months and 18 years old, especially those 6 to 59 months old
any child or adult with chronic medical conditions, such as asthma, cystic fibrosis, diabetes, sickle cell anemia, and HIV/AIDS
children and teens on long-term aspirin therapy
anyone age 50 and older
women who will be pregnant during the flu season
anyone who lives or works with infants (especially those under 6 months old)
residents of long-term care facilities, such as nursing homes
health care personnel who have direct contact with patients
out-of-home caregivers and household contacts of anyone in any of these high-risk groups

In the past, there have been times when there were vaccine shortages and delays. So talk with your doctor about availability.

For kids younger than 9 who are getting a flu shot for the first time, it's given in two separate shots a month apart. It can take about 2 weeks after the shot is given for the body to build up protection to the flu.

Another non-shot option called the nasal mist vaccine came on the market in 2003 and is now approved for use in healthy 2- to 49-year-olds. But this nasal mist isn't for everyone, and can't be used by high-risk children and adults or pregnant women.

Why the Vaccine Is Recommended

The flu vaccine reduces the average person's chances of catching the flu by up to 80% during the season. Getting the shot before the flu season is in full force gives the body a chance to build up immunity to, or protection from, the virus.

The shot usually becomes available between September and mid-November. Although you can get a flu shot well into flu season, it's best to try to get it earlier rather than later, if your doctor thinks it's necessary. However, even as late as January there are still 2 to 3 months left in the flu season, so it's still a good idea to get protection.

Even if you or your child got the vaccine last year, that won't protect you from getting the flu this year, because the protection wears off and flu viruses constantly change. That's why the vaccine is updated each year to include the most current strains of the virus.

Possible Risks

Given as one injection in the upper arm, the flu shot contains killed flu viruses that will not cause someone to get the flu, but will cause the body to fight off infection by the live flu virus. Getting a shot of the killed virus offers protection against that particular type of live flu virus if someone comes into contact with it.

Some of the most common side effects from the flu shot are soreness, redness, or swelling at the site of the injection. A low-grade fever and aches are also possible. Because the nasal spray flu vaccine is made from live viruses, it may cause mild flu-like symptoms, including runny nose, headache, vomiting, muscle aches, and fever. Very rarely, the flu vaccine can cause serious side effects such as a severe allergic reaction.

When to Delay or Avoid Immunization

People who should not get the flu shot include:

infants under 6 months old
anyone who's severely allergic to eggs and egg products because the ingredients for flu shots are grown inside eggs. Tell the doctor if your child is allergic before he or she gets a flu shot.
anyone who's ever had a severe reaction to a flu vaccination
anyone who's had Guillain-Barré syndrome (GBS, a rare medical condition that affects the nerves) within 6 weeks of getting a flu shot
anyone with a fever

Caring for Your Child After Immunization

Pain and fever may be treated with acetaminophen or ibuprofen. Check with your doctor about the appropriate dose. Some doctors recommend a dose just before the immunization. A warm, damp cloth or a heating pad also may help minimize soreness. Moving or using the limb that has received the injection often reduces the soreness as well.

When to Call the Doctor

if you aren't sure if the vaccine should be postponed or avoided
if there are problems after the immunization

Hepatitis A Vaccine (HAV)

2009-09-04T01:00:00.000-07:00

The hepatitis A virus (HAV) causes fever, nausea, vomiting, and jaundice, and can lead to community-wide epidemics. Childcare centers are a common site of outbreaks.

The vaccine is recommended for children 12-23 months old, followed by a second dose 6 months later. The vaccine is also recommended for older kids and adults who are at high risk for the disease, including those who are traveling to locations where there are high rates of HAV.

Why the Vaccine Is Recommended

Vaccination against HAV can help stop epidemics from developing in the community, in addition to protecting the individual child. Some infected children do not have any symptoms, and can spread the virus to others. The more young children who are vaccinated against HAV, the more limited the spread of disease will be in a community.

Possible Risks

Side effects are usually mild fever, and tenderness, swelling, and redness at the site of the injection.

When to Delay or Avoid Immunization

if your child is currently sick, although simple colds or other minor illnesses should not prevent immunization
if your child had an allergic reaction to the first dose of hepatitis A vaccine

Caring for Your Child After Immunization

Your child may experience fever, soreness, and some swelling and redness in the area where the shot was given. Pain and fever may be treated with acetaminophen or ibuprofen. Check with your doctor about the appropriate dose.

When to Call the Doctor

if you aren't sure if the vaccine should be postponed or avoided
if there are problems after the immunization

Rotavirus Vaccine

2009-08-27T01:00:00.000-07:00

Rotavirus is a common virus that causes diarrhea, especially in infants and young children. Childcare centers are a common site of outbreaks.

The vaccine, which is a liquid given by mouth, is recommended at ages 2, 4, and 6 months.

Why the Vaccine Is Recommended

Rotavirus can cause dehydration secondary to large amounts of diarrhea, and can result in children requiring hospitalization. Vaccination against rotavirus can help stop spread in the community, in addition to protecting the individual child.

Possible Risks

Side effects can include diarrhea and vomiting, in addition to fever.

When to Delay or Avoid Immunization

if your child is currently sick, although simple colds should not prevent immunization
if your child had an allergic reaction to a previous dose of the vaccine
if your child has an abnormality of the digestive system or a gastrointestinal disease
if your child has a history of intussusception, a type of serious bowel blockage
if your child has recently received gamma globulin or a blood transfusion
if your child has immune system problems related to cancer, leukemia, or lymphoma; is taking steroids or other immunosuppressive drugs; or is undergoing chemotherapy or radiation therapy

Caring for Your Child After Immunization

Depending on the age of your child, fever may be treated with acetaminophen or ibuprofen. Check with your doctor to see if you can give either medication, and to find out the appropriate dose. If vomiting or diarrhea occur, make sure to give your child small, frequent amounts of fluid and watch for signs of dehydration, such as less urine than usual.

When to Call the Doctor

if you aren't sure if the vaccine should be postponed or avoided
if there are problems after the immunization

HPV Vaccine

2009-08-20T01:00:00.000-07:00

Human papillomavirus (HPV) is a sexually transmitted disease (STD) that causes genital warts and changes in the cervix that can result in cervical cancer.

The vaccine is recommended for girls 11 or 12 years old, as well as for older girls who are unvaccinated. It is given as a series of three shots over a 6-month period.

Why the Vaccine Is Recommended

Because HPV can cause serious problems such as genital warts and cervical cancer, a vaccine is an important step in preventing infection and protecting against the spread of HPV. It works best when given before a girl becomes sexually active.

Possible Risks

Side effects are usually mild fever and tenderness, swelling, and redness at the site of the injection. Dizziness, fainting, nausea, and vomiting may also occur after the shot.

When to Delay or Avoid Immunization

if your daughter is currently sick, although simple colds or other minor illnesses should not prevent immunization
if your daughter had an allergic reaction to the first dose of HPV vaccine
if your daughter has had a severe allergic reaction to yeast
if your daughter is pregnant
if your daughter has a bleeding disorder (discuss with your hematologist)

Caring for Your Child After Immunization

When to Call the Doctor

if you aren't sure if the vaccine should be postponed or avoided
if there are problems after the immunization

Immunization Schedule

2009-08-13T01:00:00.000-07:00

This immunization schedule is a handy reference to help you keep track of which vaccines your child needs to receive and when.

Types of Vaccines

Four different types of vaccines are currently available:

Attenuated (weakened) live viruses are used in some vaccines such as in the measles, mumps, and rubella (MMR) vaccine.
Killed (inactivated) viruses or bacteria are used in some vaccines, such as in IPV.
Toxoid vaccines contain a toxin produced by the bacterium. For example, the diphtheria and tetanus vaccines are toxoid vaccines.
Conjugate vaccines (such as Hib) contain parts of bacteria combined with proteins.

Immunizations for Travel

Specific information about which immunizations are required by travelers to each country worldwide is available directly from the Centers for Disease Control and Prevention (CDC). Ask your doctor for more information.

Depending on the type and length of travel, some vaccines may be recommended. Most immunizations should be given at least 1 month before travel. Take your child's immunization records with you when you travel internationally.

MCV4

2009-08-11T01:00:00.000-07:00

The meningitis vaccine protects against meningococcal disease, a serious bacterial infection that can lead to bacterial meningitis.

The vaccine is recommended for kids at age 11 or 12 years, at ages 13 to 18 years if not previously vaccinated, and for older teens who are entering college and will be living in a dormitory setting.

Why the Vaccine Is Recommended

Bacterial meningitis, an inflammation of the membrane that protects the brain and spinal cord, is a rare but highly contagious disease that can spread rapidly among kids who are in close quarters. It can be life-threatening if not promptly treated.

Possible Risks

Some of the most common side effects are swelling, redness, and pain at the site of the injection, along with headache, fever, or fatigue.

When to Delay or Avoid Immunization

if your child tends to have allergic reactions to the DTaP vaccine or to latex
if your child has a history of Guillain-Barré syndrome, a disease of the nervous system which causes progressive weakness
if your child is currently sick, although simple colds or other minor illnesses should not prevent immunization

Caring for Your Child After Immunization

A warm, damp cloth or a heating pad also may help reduce soreness. Moving or using the limb that has received the injection often reduces the soreness.

When to Call the Doctor

if you aren't sure if the vaccine should be postponed or avoided
if there are problems after the immunization

Hepatitis B Vaccinations

2009-05-31T01:00:00.000-07:00

At birth, infants have protection against certain diseases because antibodies have passed through the placenta from the mother to the unborn child. After birth, breastfed babies get the continued benefits of additional antibodies in breast milk. But in both cases, the protection is temporary.

Immunization (vaccination) is a way of creating immunity to certain diseases by using small amounts of a killed or weakened microorganism that causes the particular disease.

Microorganisms can be viruses, such as the measles virus, or they can be bacteria, such as pneumococcus. Vaccines stimulate the immune system to react as if there were a real infection — it fends off the "infection" and remembers the organism so that it can fight it quickly should it enter the body later.

Some parents may hesitate to have their kids vaccinated because they're worried that the children will have serious reactions or may get the illness the vaccine is supposed to prevent. Because the components of vaccines are weakened or killed — and in some cases, only parts of the microorganism are used — they're unlikely to cause any serious illness. Some vaccines may cause mild reactions, such as soreness where the shot was given or fever, but serious reactions are rare.

The risks of vaccinations are small compared with the health risks associated with the diseases they're intended to prevent.

The following vaccinations and schedules are recommended by the American Academy of Pediatrics (AAP). Please note that some variations are acceptable and that changes in recommendations frequently occur as new vaccines are developed. Many of these vaccines are available as combinations to reduce the number of shots a child receives. Your doctor will determine the best vaccinations and schedule for your child.

Recommended vaccinations:

Hepatitis B

Immunization Schedule

Why the Vaccine Is Recommended

Possible Risks

Serious problems associated with receiving the HBV vaccine are rare. Problems that do occur tend to be minor, such as fever or redness or tenderness at the injection site.

When to Delay or Avoid Immunization

if your child is currently sick, although simple colds or other minor illnesses should not prevent immunization
if a severe allergic reaction (called anaphylaxis) occurred after a previous injection of the HBV vaccine

Caring for Your Child After Immunization

The vaccine may cause mild fever, and soreness and redness in the area where the shot was given. Depending on the age of your child, pain and fever may be treated with acetaminophen or ibuprofen. Very young infants should not be given either medication, but for older infants or children, you can check with the doctor about the appropriate dose.

When to Call the Doctor

if you're not sure of the recommended schedule for the hepatitis B vaccine
if you have concerns about your own HBV carrier state
if moderate or serious adverse effects appear after your child has received an HBV injection

Thalassemias

2009-05-24T01:00:00.000-07:00

What Are Thalassemias?

Thalassemias are genetic disorders that involve the decreased and defective production of hemoglobin, a molecule found inside all red blood cells (RBCs) that transports oxygen throughout the body.

As frightening as thalassemias can be, the outlook is encouraging. In the past 20 years, new therapies have greatly improved the quality of life and life expectancy in kids who have these diseases.

Thee two types of thalassemia are alpha-thalassemia and beta-thalassemia. Their names describe which part of the hemoglobin molecule that is effected, the alpha or the beta chain. Hemoglobin contains two different kinds of protein chains named alpha and beta chains. Any deficiency in these chains causes abnormalities in the formation, size, and shape of RBCs.

Thalassemia can cause ineffective production of RBCs and their destruction. As a result, people with thalassemia often have a reduced number of RBCs in the bloodstream (anemia), which can affect the transportation of oxygen to body tissues. In addition, thalassemia can cause RBCs to be smaller than normal or drop hemoglobin in the RBCs to below-normal levels.

Kids who have with different forms of thalassemia have different kinds of health problems. Some only have mild anemia with little or no effects, while others require frequent serious medical treatment.

Causes

Thalassemia is always inherited, passed on from parents to children through their genes. A child usually does not develop symptoms unless both parents carry a thalassemia gene.

If only one parent passes a gene for thalassemia on to the child, then the child is said to have thalassemia trait. Thalassemia trait will not develop into the full-blown disease, and no medical treatment is necessary.

Many families have thalassemia carriers, but the trait often goes undiagnosed because it produces no or few symptoms. Frequently, thalassemia is not diagnosed in a family until a baby is born with it. So if someone in your family carries a thalassemia gene, it's wise to have genetic counseling if you're thinking of having children.

At one time it was believed that the disease affected only people of Italian or Greek descent, but it's now known that many people with thalassemia also come from or are descended from Africa, Malaysia, China, and many parts of Southeast Asia.

Because of a recent pattern of migration from Southeast Asia, there has been an increase in the past decade of thalassemia in North America. Testing for thalassemia is generally recommended for anyone from Southeast Asia with unexplained anemia.

If your doctor determines that your child is at risk for thalassemia, prenatal tests can find out if your unborn child is affected.

Types of Thalassemias

Alpha-Thalassemia

Children with alpha-thalassemia trait do not have thalassemia disease. People normally have four genes for alpha globin, two inherited from each parent. If one or two of these four genes are affected, the child is said to have alpha-thalassemia trait.

A specific blood test called a hemoglobin electrophoresis is used to screen for alpha-thalassemia trait and can be done in infancy. Sometimes, alpha-thalassemia trait can be detected through routine newborn blood screening, which is required in most states in the U.S.

Often, results of the hemoglobin electrophoresis test are normal in people who have alpha-thalassemia trait and a diagnosis of alpha-thalassemia is done only after other conditions are ruled out and after the parents are screened. The disease can be harder to detect in older kids and adults.

Kids who have the alpha-thalassemia trait usually have no significant health problems except mild anemia, which can cause slight fatigue.

Alpha-thalassemia trait is often mistaken for an iron deficiency anemia because RBCs will appear small when viewed under a microscope.

Other cases can cause more severe anemia where three genes are affected. People with this form of alpha-thalassemia may require occasional blood transfusions during times of physical stress, like fevers or other illnesses, or when the anemia is severe enough to cause symptoms such as fatigue.

The most severe form of the disorder is called alpha-thalassemia major. This type is extremely rare, and women carrying fetuses with this form of thalassemia have a high incidence of miscarriage because the fetuses cannot survive.

Beta-Thalassemia

Beta-thalassemia, the most common form of the disorder seen in the United States, is grouped into three categories: beta-thalassemia minor (trait), intermedia, and major (Cooley's anemia). A person who carries a beta-thalassemia gene has a 25% (1 in 4) chance of having a child with the disease if his or her partner also carries the trait.

Recently, some kids have successfully undergone bone marrow transplants to treat thalassemia major; however, this is considered only in cases of severely disabling thalassemia disease. There is considerable risk to bone marrow transplants: the procedure involves the destruction of all of the blood-forming cells in the bone marrow and repopulating the marrow space with donor cells that must match perfectly (the closest match is usually from a sibling).

The procedure is usually done in children younger than 16 years of age who have no existing evidence of liver scarring or serious liver disease. Results have been encouraging so far, with disease-free survival in many patients.

Blood-forming stem cells taken from umbilical cord blood have also been successfully transplanted, and research using this technique is expected to increase. Currently bone marrow treatment is the only known cure for the disease.

Talking to the Doctor

If you know the thalassemia trait exists in your family, it's important to meet with your doctor, particularly if you notice any of the symptoms of thalassemia major — anemia, listlessness, or bone abnormalities — in your child.

If you're thinking of having children, speak with a genetic counselor to determine your risk of passing on the disease.

Sickle Cell Disease

2009-05-17T01:00:00.000-07:00

Sickle cell disease is an inherited disorder in which red blood cells (RBCs) are abnormally shaped. This abnormality can result in painful episodes, serious infections, chronic anemia, and damage to body organs.

These complications can, however, vary from person to person depending on the type of sickle cell disease each has. Some people are relatively healthy and others are hospitalized frequently.

But thanks to advancements in early diagnosis and treatment, most kids born with this disorder grow up to live relatively healthy and productive lives.

A Closer Look at Sickle Cell Disease

The different forms of sickle cell disease are determined by the genes inherited from the person's parents.

Someone who has the disease has inherited a sickle cell gene from each parent (hemoglobin SS disease, also called sickle cell anemia).

A person can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as hemoglobin SC disease or hemoglobin S-thalassemia.

Someone who inherits only one sickle cell gene and a normal gene from the other parent will have the sickle cell trait, but not the disease. A blood test can determine whether you have sickle cell disease or carry the sickle cell trait.

People with sickle cell trait don't have sickle cell disease or exhibit any signs of the disorder, but they can pass the gene for the disease to their children. When both parents have the sickle cell trait, there's a 25% chance that a child will have sickle cell disease. But when one parent is carrying the trait and the other actually has the disease, the odds increase to 50% that their child will inherit the disease.

Who Is Affected?

In the United States, hemoglobin SS disease (sickle cell anemia) affects mostly African Americans. Some forms of sickle cell disease may occur, although less frequently, in people with different ethnic backgrounds, such as those whose ancestors came from Mediterranean countries (including Turkey, Greece, and Italy), East India, or Middle Eastern countries.

Causes of Sickle Cell Disease

A child with sickle cell disease has inherited two defective hemoglobin genes. The hemoglobin can take on an abnormal shape, distorting the shape of the red blood cell. The cells change from a normal round, doughnut shape to the elongated shape of a sickle, or the shape of the letter "C."

Unlike normal RBCs, which move easily through small blood vessels, sickle cells are stiff and pointed. The sickle shape means that they have a tendency to get stuck in narrow blood vessels and block the flow of blood. This can cause episodes of pain and can also lead to organ damage because the cells aren't getting enough oxygen.

Sickle cells have a shorter-than-normal life span, which leads to anemia (low red blood cell count). A normal red blood cell lives for about 120 days, whereas a sickle cell lives for only 10 to 20 days.

Diagnosis

Usually, sickle cell disease is diagnosed at birth with a blood test. This can be done in conjunction with other routine newborn screening tests. If a child tests positive on the screening test, a second blood test is usually performed to confirm the diagnosis.

Because kids with sickle cell disease are at an increased risk of infection and other health complications, early diagnosis and treatment is important. Currently, more than 40 states require newborn screening programs for sickle cell disease.

Signs and Symptoms

Symptoms of sickle cell disease vary and range from mild to severe, and symptoms may be less severe or different in children who have inherited a sickle cell gene from one parent and a different abnormal hemoglobin gene from the other.

Most kids with sickle cell disease have some degree of anemia and might develop one or more of the following conditions and symptoms as part of the disorder:

Acute chest syndrome: Inflammation or trapped red blood cells in the lungs cause this syndrome. Signs include chest pain, coughing, difficulty breathing, and fever.

Aplastic crisis: This is when the bone marrow temporarily slows its production of RBCs due to infection or another cause, resulting in a severe drop in the red cell count and severe anemia. Signs include paleness, fatigue, and rapid pulse.

Hand-foot syndrome (also called dactylitis): This painful swelling of the hands and feet, plus fever, may be the first sign of sickle cell anemia in some infants.

Infection: Kids with sickle cell disease are at increased risk for certain bacterial infections. It's important to watch for fevers of 101° Fahrenheit (38° Celsius) or higher, which could signal an infection. Children with sickle cell disease and fever should be seen by a doctor immediately.

Painful crises: These may occur in any part of the body and may be brought on by cold or dehydration. The pain may last a few hours or up to 2 weeks or even longer, and may be so severe that a child needs to be hospitalized.

Splenic sequestration crises: The spleen becomes enlarged by trapping (or "sequestering") the abnormal RBCs. This leads to fewer cells in the general circulation. Early signs include paleness, weakness, an enlarged spleen, and pain in the abdomen.

Stroke: Poor blood flow in the brain can occur when the sickle-shaped cells block small blood vessels. This may lead to a stroke. Signs can include headache, seizures, weakness of the arms and legs, speech problems, a facial droop, and loss of consciousness.

Other possible complications include leg ulcers, bone or joint damage, gallstones, kidney damage, painful prolonged erections in males (priapism), eye damage, and delayed growth.

Treatment

Aside from a bone marrow transplant, there is no known cure for sickle cell disease. Transplants are complicated procedures and aren't an option for everyone. To qualify, a child would need bone marrow from a "matched" donor with a low risk of being rejected. Even then, there are significant risks to the procedure and there's always the chance of rejection of the transplanted marrow.

But even without a cure, kids with sickle cell disease can lead relatively normal lives. Medicines are available to help manage the pain, and immunizations and daily doses of penicillin (an antibiotic) can help prevent infection.

Infection used to cause many deaths in infants with sickle cell disease, but thanks to penicillin and appropriate immunizations, children with sickle cell disease are much more likely to live longer, healthier lives. Although penicillin isn't a cure, it can help prevent life-threatening infections due to bacteria that cause serious infections such as sepsis (a severe infection in the blood), meningitis, and pneumonia.

Infants and kids with sickle cell disease usually require two daily doses of penicillin, as prescribed by their doctors, until they're at least 5 years old (and often older). In addition, they should be fully immunized with the regular childhood vaccinations, including the pneumococcal vaccine and influenza and meningococcal vaccines.

Most doctors also prescribe daily vitamin supplements. Folic acid, in particular, can help a child with the disorder produce new RBCs.

In addition, kids who develop serious complications (such as acute chest syndrome, severe anemia, or stroke) may receive regular transfusions of red blood cells to prevent or treat these complications.

In 1998 the U.S. Food and Drug Administration (FDA) approved the drug hydroxyurea for use in adults with sickle cell disease; while it still has not been officially approved for use in children, it can be used by specialists in some circumstances.

Hydroxyurea increases the amount of fetal hemoglobin in blood cells, which interferes with the sickling process and makes red blood cells less sticky. This helps decrease the number and intensity of painful episodes and other complications. The drug has been proven to decrease pain and other complications in children as well as adults. Research is continuing to determine the drug's long-term effects and safety.

When to Call the Doctor

Seek emergency medical attention immediately if your child develops any of the following:

fever of 101° Fahrenheit (38° Celsius) or higher
pain that isn't relieved by oral medication
chest pain
shortness of breath or trouble breathing
severe headaches or dizziness
severe stomach pain or swelling
jaundice or extreme paleness
painful erection in males
sudden change in vision
seizures
weakness or inability to move any part of the body
loss of consciousness

Caring for Your Child

In addition to the primary care doctor, your child should receive regular care from a hematologist (a blood specialist) or a sickle cell specialty clinic. It's important to share your concerns and discuss any new symptoms or complications with your child's health care team.

Your child also should drink lots of fluids, get plenty of rest, and avoid extreme temperatures.

Most people with sickle cell disease now live into their mid-40s and beyond. A critical time is the first few years of life, which is why early diagnosis and treatment are so important.

Port Wine Stains

2009-05-10T01:00:00.000-07:00

About Port-Wine Stains

About 3 out of every 1,000 kids are born with a port-wine stain — a birthmark that literally looks like maroon wine was spilled or splashed on the skin. Though they often start out looking pink at birth, port-wine stains tend to become darker (usually reddish-purple or dark red) as kids grow.

Port-wine stains (also known as nevus flammeus) can be anywhere on the body but most commonly are found on the face, neck, scalp, arms, or legs. They can be any size, and usually grow in proportion with a child. They often change in texture over time, too — early on, they're smooth and flat but they may thicken and feel like pebbles under the skin during adulthood.

For most kids, port-wine stains are no big deal — they're just part of who they are. And some port-wine stains are barely noticeable, especially when they're located somewhere other than the face.

But port-wine stains often get darker and can sometimes become disfiguring and embarrassing for children. Port-wine stains (especially on the face) can make kids feel self-conscious, particularly during the already challenging preteen and teen years when kids are often more interested in blending in than standing out.

Although port-wine stains won't go away on their own, they can be treated. In fact, laser therapies can make many port-wine stains much less noticeable and give kids' self-esteem a much-needed boost.

Cause

Port-wine stains happen when an area of skin doesn't get any (or an insufficient) supply of nerve fibers, which normally help keep blood vessels narrow. When there's a lack of nerve fibers, small blood vessels (called capillaries) keep expanding, allowing a greater amount of blood to flow into the blood vessels, causing a stain to form under the skin. Birthmarks that form like this are called vascular birthmarks.

Port-wine stains can't be prevented — and they're not caused by anything a mother did during pregnancy.

Diagnosis

Your doctor can sometimes tell if your child has a port-wine stain or a different kind of vascular birthmark by looking at your child's skin.

Vascular birthmarks called macular stains (also known as salmon patches, angel kisses, or stork bites) may resemble port-wine stains. They're faint red marks often found on the forehead or eyelids, the back of the neck, or on the nose, upper lip, or on the back of the head. These often fade on their own by the time a child is 1 to 2 years old.

Port-wine stains also may be confused with hemangiomas. Superficial (formerly called "strawberry") hemangiomas are bright red, raised birthmarks. Deep hemangiomas (once called "cavernous") are a bluish-red, puffier birthmark. Hemangiomas, which are also found on the head or neck, grow quickly during infants' first 6 months or so, but usually shrink back and disappear by the time a child is 5 to 9 years old.

Port-wine stains are usually nothing more than a harmless birthmark that doesn't cause any problems or pain. However, they're sometimes (though very rarely) a sign of other medical conditions.

For example, port-wine stains on or near the eye or on the forehead need to be monitored. That's because they may be associated with a sort of "stain on the brain" (a very uncommon neurological disorder called Sturge-Weber Syndrome that causes problems like seizures, developmental delays, and learning disabilities). Stains on the eyelids may also, rarely, lead to glaucoma — increased pressure inside the eye that can affect vision and lead to blindness if left untreated.

If there's a concern about the location of a port-wine stain or accompanying symptoms, your doctor may order tests (such as eye tests or imaging tests like an X-ray, CT scan, or MRI) to see what's going on and rule out an underlying problem. If your child has a birthmark anywhere on the body it's important for your doctor examine it to see what type it is and what kind of monitoring and treatment it needs, if any.

Treatment

Although some port-wine stains are small and hard to see, some can be really upsetting for kids, especially if they're large, dark, or on the face. And any birthmark can take a toll on a child's self-confidence, no matter how large or small the mark might be.

The good news is that lasers (highly concentrated light energy) can make many kids' port-wine stains much lighter, especially when the birthmark is on the head or neck. Dermatologist or plastic surgeons usually give several treatments with the laser of choice for port-wine stains called a "pulsed-dye" laser.

Laser treatment is often started in infancy when the stain and the blood vessels are smaller and the birthmark is much easier to treat. But that doesn't mean laser treatments can't help older kids or teens, too — it's just that the longer someone has had the stain, the harder it might be to successfully treat it.

Laser therapy doesn't hurt a lot, but can be uncomfortable. During the treatment, kids can usually be given an anesthetic (given as a shot, spray, or ointment to numb the area to so it doesn't hurt as much). Young kids may also be given general anesthesia to help them sleep or relax during the procedure. After treatment, the area might be swollen and bruised at first, but it will be back to normal in 7 to 10 days.

For port-wine stains that have become bumpy, thick, or raised, doctors sometimes need to use another type of laser or surgery. Port-wine stains can also develop grape-like growths of small blood vessels called vascular blebs — these aren't usually cause for concern but they often bleed and may need to be removed.

In the past some people have opted for other treatments, too (like freezing, tattooing, even radiation). But these aren't as effective — or as safe — as laser therapy. Laser surgery is the only treatment that works on port-wine stains with less risk of damaging or scarring the skin. Sometimes, though, laser treatments may make the area look lighter or darker than normal, although this usually is just temporary.

And laser treatments may not get rid of the birthmark entirely (though a few kids' birthmarks do disappear altogether after treatment). Plus, over time the birthmark may come back and need to be retreated.

For a small number of kids, laser treatment might not work at all. Every child's port-wine stain is different, so whether or not the treatment works well will be different for each child, too.

Care

Port-wine stains can get very dry sometimes, so it's important to use a moisturizer. Also be sure to call the doctor if your child's port-wine stain ever bleeds, hurts, itches, or becomes infected. Like any injury where there's bleeding, make sure to clean the wound with soap and water and use a gauze bandage to place firm pressure on the area until the bleeding stops. If the bleeding doesn't stop, call your doctor.

If your child's port-wine stain has been treated with laser surgery, avoid rubbing or scratching the area, and gently cleanse it with lukewarm water. Your doctor may prescribe an ointment to aid in healing and help prevent infection.

Helping Kids Cope

As with any birthmark, port-wine stains (especially on the face) can make kids feel different and insecure about how they look. If it's clearly visible, people might ask questions or stare, which can be hurtful for both you and your child. Even at a young age, kids watch how their parents respond to these situations and take cues about how to cope with others' reactions.

Practice responses so your child will feel more prepared when asked about it. It can help to have a simple, calm, nonchalant explanation ready like, "It's just a birthmark. I was born with it."

Talking simply and openly about a birthmark with kids makes them more likely to accept it as just another part of themselves — like their height or eye color. It's also important, emotionally, for kids to be around supportive family and friends who treat them like everyone else.

Of course, it's still natural for kids to want to do whatever they can to minimize a birthmark. In addition to laser treatments, special cover-up makeup can camouflage the stain and make living with it a little easier.

Still, kids with port-wine stains (or any birthmark, really) need to know that they're no different from other kids. If anything, it may help to tell your child that kids born with a port-wine stain are unique in a good way — it's a special, colorful part of themselves that few other people have.

Mitral Valve Prolapse

2009-05-03T01:00:00.000-07:00

Mitral valve prolapse (MVP), a very common heart condition, occurs when one of the heart's valves doesn't work properly. MVP can be frightening because it involves the heart and can cause sharp chest pains, but it isn't a critical heart problem or a sign of other serious medical conditions.

Because MVP often doesn't produce any symptoms or interfere with everyday life, in many cases it isn't diagnosed until adulthood. But with kids who are diagnosed, it's important to know what the symptoms are, so that you can distinguish them from signs of any other more serious heart issues.

What Is the Mitral Valve?

To understand mitral valve prolapse, it's helpful to review some basics about the way a healthy heart works.

The heart is made up of four distinct chambers: two atria (the two upper chambers) and two ventricles (the two lower chambers).
During circulation, blood flows from all over the body into the heart's right atrium.
From there the blood travels to the right ventricle, which pumps the blood to the lungs to receive oxygen.
Once the blood has been infused with oxygen, it returns from the lungs to the heart's left atrium.The oxygen-rich blood then passes into the left ventricle, which pumps it out to the body through a large blood vessel known as the aorta.

The mitral valve is located between the left atrium and the left ventricle and helps control the flow of blood as it passes from the left atrium into the left ventricle. The valve has two flaps of tissue — known as leaflets — that open and close together like a pair of swinging doors. Each time the heart beats, the left ventricle pumps blood out to the body and the flaps of the mitral valve swing shut to prevent the blood in the ventricle from flowing backward into the left atrium.

In cases of MVP, one or both of the mitral valve's flaps bulge back into the atrium when they are shut, a bit like a balloon. This may occur because one of the flaps is abnormally shaped or a little too large.

In some cases, when the flaps do not close evenly, blood is allowed to leak back into the left atrium. This is called mitral regurgitation. A tiny amount of mitral regurgitation is normal. In some cases, there's more leakage, which can cause a heart murmur a whooshing sound between the normal lub-dub of the heartbeat. (Because of these sounds, MVP is sometimes called click-murmur syndrome, floppy valve syndrome, or balloon mitral valve.)

In most cases, the cause of MVP is unknown. Sometimes kids are born with the condition. In other cases, it develops after some sort of inflammatory condition, like endocarditis, an inflammation of the inner lining of the heart, or rheumatic fever, an inflammation that can affect the joints and the heart.

MVP may be diagnosed in people who have other health conditions that affect the body's connective tissue, such as Marfan syndrome. Some research has shown that kids with MVP may be more likely to also have an arrhythmia, an irregular heartbeat.

Signs and Symptoms

Many people with MVP have no symptoms. In some cases, though, the flaps of the mitral valve make a clicking sound when they close. A doctor may be able to hear this noise when listening to the heart with a stethoscope. Someone who has MVP and mitral regurgitation may also have a heart murmur, a sound caused by some blood moving backward into the left atrium. When a click and a murmur are heard together, the click happens first, as the flaps close, followed by the murmur as the blood leaks back into the atrium through the improperly closed valve.

Kids with MVP also may experience:

dizziness or lightheadedness
fatigue
shortness of breath or trouble breathing after exertion
a feeling that the heart is skipping beats or beating very quickly
chest pain that comes and goes

The chest pain is often sharp but it can vary from person to person. Learn to recognize the symptoms, and call your doctor if your child has chest pain that:

consistently occurs during physical exertion (exercise or sports)
creates pressure and a crushing sensation
occurs with other symptoms (palpitations that last more than a few seconds, dizziness, fainting, or shortness of breath)

Diagnosis and Treatment

In most cases, MVP is diagnosed during a routine exam when a doctor listens to the heart with a stethoscope and hears a different sound. If the doctor hears a click or a murmur that indicates MVP, your child may be referred to a pediatric cardiologist, a doctor who specializes in diagnosing and treating heart conditions in kids.

The cardiologist will perform a thorough physical exam and listen to the heart. Then he or she may order tests — including an echocardiogram (echo) and an electrocardiogram (EKG or ECG) — to find out what's causing the sound. An echo uses sound waves to create a picture of the heart and its blood flow, and an EKG records electrical activity in the heart. If a child has MVP, the bulging valve flaps will probably be seen on the echo when the heart beats.

Kids who are diagnosed with MVP usually require no medical treatment. In some cases where MVP causes significant regurgitation, blood pressure medication is prescribed to control how hard the heart muscle must work. (With blood leaking back into the atrium, the heart works harder to pump the normal amount of blood out to the body.) A child who has an arrhythmia in addition to MVP may need to take medicine to help regulate the heart's rhythm. In rare cases, surgery may be done to repair a very leaky mitral valve.

Caring for a Child With MVP

Kids with MVP who have no other medical conditions typically require no special care. A child with MVP who plays competitive sports will be able to continue doing so as long there's no mitral regurgitation or active symptoms from the MVP. A child who does have regurgitation or symptoms will have to be cleared by the doctor to participate in sports. This may involve some additional tests.

Although any heart condition can be frightening, mitral valve prolapse likely will not have any impact on your child's everyday life and activities. If you have any questions or concerns, speak with your doctor.

Heart Defect in Child

2009-04-26T01:00:00.000-07:00

It can be frightening to learn that your child has a congenital heart defect (one that's present at birth). But congenital heart disease is a relatively common condition that affects almost 1 in every 100 newborns in the United States. Medical knowledge, technology, and experience can offer accurate diagnosis and treatments that allow nearly every form of congenital heart disease to be treated.

Most defects today are treated with surgery, catheter procedures, and sometimes medication. Thanks to advances in techniques, surgical and heart catheterization procedures can treat congenital heart defects that once could not be treated effectively.

Cardiac surgery and cardiac catheterizations are now being performed on younger children — in fact, it's common for them to be done during infancy or even the newborn period. This has resulted in many long-term advantages for these children.

Although nothing can be guaranteed with 100% certainty, most kids with heart problems can enjoy happy and healthy futures.

Why Do Some Babies Have Congenital Heart Defects?

The human heart begins to form as a single tubular structure at about the fourth week of pregnancy. By the eighth week, this tube will gradually increase in length, eventually twisting upon itself. A wall, or septum, grows to divide the upper (atrial) and lower (ventricular) chambers into left and right sides. Four valves made of tissue develop, which will keep blood moving forward through the cardiac chambers, lungs, and body as the heart pumps.

Because the placenta (and not the fetus' lungs) does the work of exchanging oxygen and carbon dioxide, it's possible for even severe developmental abnormalities of the heart to exist without causing difficulties for the fetus. Such abnormalities may become important only after the fetus' circulation transitions to the newborn state after birth (when the umbilical cord is clamped at the time of delivery, the placenta is no longer involved in the baby's circulation).

The newborn becomes dependent upon the lungs and circulatory system for the oxygen and blood flow needed to survive outside of the womb. The right side of the heart receives oxygen-poor blood flowing back from the body and pumps it to the lungs, where the circulating blood picks up more oxygen. The left side of the heart receives oxygen-rich blood from the lungs and pumps it out to the body.

Multiple genetic and environmental factors interact to alter the development of the heart during the early stages of a fetus' development (the first 8 to 9 weeks during pregnancy). Sometimes, the cause of a congenital heart defect is known. Certain environmental exposures during the first trimester of pregnancy may cause structural abnormalities (including anticonvulsant medications such as phenytoin, the dermatologic medication isotretinoin, or lithium salts for manic-depressive illness). Uncontrolled diabetes, alcohol or drug abuse, or exposure to industrial chemicals during pregnancy can also increase the risk of congenital heart malformations. But most of the time, the specific cause of congenital heart disease is not known.

Over the past 25 years, advances in ultrasound imaging techniques have led to the availability of sophisticated tools such as fetal echocardiography, making it possible for many congenital heart malformations to be diagnosed as early as the 12th to 20th week of pregnancy. The use of such imaging has reassured many parents-to-be that their baby's heart is normal. For others, it has offered an opportunity to know long before the birth that there's a malformation. This gives the family and doctors the ability to make well-informed decisions about the best treatment options.

Signs and Symptoms of Congenital Heart Disease

After birth, the first sign of congenital heart disease is often the presence of a heart murmur. A murmur in itself is not a disease, but simply a sound. As the heart pumps blood, it sometimes creates vibrations that are heard through the doctor's stethoscope as a noise, or murmur.

Not all heart murmurs are signs of abnormalities — in fact, heart murmurs usually don't indicate the presence of any heart problem. Sometimes, a doctor can determine with the stethoscope alone whether a particular murmur is a sign of heart disease. In other cases, additional tests — such as chest X-rays, electrocardiograms (EKGs), or echocardiograms — are performed to help determine the exact nature of a murmur.

Although many children with minor forms of congenital heart disease may not require any treatment, some can have serious symptoms early on that will require medical or surgical treatment within the first year of life. One such symptom can be breathing difficulties from lung congestion. This is usually the result of excessive blood flow from the left side to the right side of the heart through abnormal connections between the two sides of the circulation, such as holes in the heart (as in ventricular septal defect, atrial septal defect, atrioventricular canal, and patent ductus arteriosus).

Or the congestion could be the result of obstructions to blood flow on the left side of the heart, resulting in a backup of blood in the blood vessels returning blood from the lungs (such as in aortic stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). The shortness of breath in these babies may interfere with their ability to feed and may result in an inability to gain weight adequately. Such babies may require medical treatment or a procedure such as surgery or cardiac catheterization within the first weeks of life.

Other symptoms of congenital heart disease relate to an inadequate amount of oxygen carried within the blood. These infants usually appear to have blue skin, a condition called cyanosis. This can be due to an obstruction of blood flow to the lungs (such as in tricuspid atresia or pulmonary atresia) or due to a hole within the heart that allows oxygen-poor blood to flow from the right to the left side of the heart and out to the body (such as in total anomalous pulmonary venous return or Ebstein's anomaly). It can also be related to an abnormal positioning (transposition) of the arteries leaving the heart. In any of these cases, less red oxygenated blood comes from the lungs and more blue unoxygenated blood is carried to the body, causing the blue skin color.

Treatment for Congenital Heart Defects

Many heart abnormalities (including patent ductus arteriosus, ventricular septal defect, truncus arteriosus, atrioventricular septal defect, tetralogy of Fallot, and transposition of the great arteries) can be corrected with a single operation in early infancy. More complex abnormalities (including hypoplastic left heart syndrome and tricuspid atresia) may require a series of two or three operations beginning in the newborn period and completed at approximately 3 years of age. With most complex abnormalities, the children spend the majority of their time in the care of their parents at home, with occasional visits to the pediatric cardiologist (a heart specialist) as well as to the child's primary care doctor.

Less invasive procedures done in the cardiac catheterization laboratory, rather than the operating room, may be used to treat some conditions. Such treatments may include balloon angioplasty or valvuloplasty to relieve an obstruction of a blood vessel (such as in coarctation of the aorta) or a valve obstruction (such as in pulmonary or aortic stenosis). In these procedures, a pediatric cardiologist inserts a catheter, a thin plastic tube with a special balloon attached, into a blood vessel. The balloon is then inflated to stretch open the narrow area of the blood vessel or heart valve. Another procedure called transcatheter device occlusion may be used to close abnormal openings or holes within the heart or blood vessels (such as in patent ductus arteriosus, atrial septal defects, and ventricular septal defects) without requiring surgery.

Some abnormalities, such as small- or moderate-sized ventricular septal defects, may close or decrease in relative size as your child grows. While waiting for the hole to close, the doctor may prescribe medicines for your child, which some kids also need to take after surgery.

Whether treated surgically or medically, your child will need to regularly visit a pediatric cardiologist. At first, these appointments may be fairly frequent (perhaps every month or two), but after treatment, they may be cut back, sometimes to just once a year. Your child's cardiologist may use tools like X-rays, electrocardiograms, or echocardiograms to monitor the defect and the effects of treatment.

Preventing Infection

Kids with congenital heart disease are at risk for the development of bacterial endocarditis, an infection of the tissue that lines the heart and blood vessels. This serious illness requires prolonged treatment with intravenous antibiotics in a hospital setting.

Any time a child has a surgical procedure, the surgical incision can introduce bacteria into the bloodstream. Although the white blood cells of the body usually destroy these germs before an infection can occur, the rough surfaces that may be present within a congenitally malformed heart may allow some germs to survive and reproduce, resulting in an infection of the heart lining.

Fortunately, the risks of bacterial endocarditis can be greatly reduced by taking a dose of specific antibiotics before any scheduled medical procedures that have a risk for introducing germs into the bloodstream. This includes dental work and certain types of surgery.

However, some parents misinterpret this to mean that dental visits and cleanings are potentially dangerous and that they can avoid risk by avoiding the dentist. This is incorrect! In fact, the riskiest thing to do is to ignore dental health, which may allow teeth to develop cavities and gums to become infected. Along with taking antibiotics correctly, it's important for children with heart defects to take good care of their teeth by brushing and flossing properly. Your child should begin visiting a dentist as early as possible, and those visits should be as frequent as the dentist recommends.

Taking measures to prevent bacterial endocarditis is recommended for kids with almost all congenital cardiac malformations (except in the case of isolated ostium secundum and atrial septal defect). Discuss these preventive measures with your child's doctor, pediatric cardiologist, and dentist. Local chapters of the American Heart Association (AHA) or your pediatric cardiologist can give you free wallet cards detailing the recommended antibiotics and their appropriate doses.

If You Suspect a Problem

Although sudden serious downturns during or after cardiac treatment aren't common, you should watch for certain signs that could signal a need for medical attention. If your child appears to be working harder than normal to breathe, call your child's doctor right away.

Other signs that warrant immediate medical attention include:

a bluish tinge or color (cyanosis) to the skin around the mouth or on the lips and tongue
an increased rate of breathing or difficulty breathing
poor appetite or difficulty feeding (which may be associated with color change)
sweating while feeding
failure to thrive (failure to gain weight or weight loss)
decreased energy or activity level
prolonged or unexplained fever

Call the doctor immediately if your child has any of these symptoms.

Caring for Your Child

Parenting kids with heart defects includes learning about basics like feeding, giving medicines, and watching for signs of trouble, but it also involves encouraging kids to become involved in their own care.

Because most congenital heart defects are now treated during infancy, it's often necessary to explain to an older child what happened in the past. When your child is old enough to understand, explain why he or she has a surgical scar, needs to take medication, or needs to visit the pediatric cardiologist. Describe the treatment in a way your child can understand and don't try to hide the details.

If kids believe they have a role in their care, they're likely to be more confident and positive. Your doctor may be able to suggest ways to discuss these issues.

Participation in some physical activities may be limited, but kids can still play and explore with friends. Always check with your child's cardiologist about which activities your child should or should not be doing. Certain competitive sports may be restricted, for example.

Although it's tempting for parents to be overly protective, sheltering kids can make them feel isolated and stigmatized — which may do more harm than a heart defect in the long run. So do everything you can to make sure your child leads as normal a life as possible.

Hypertension

2009-04-19T01:00:00.000-07:00

High blood pressure, also called hypertension, is a condition most often associated with adults. But kids can have high blood pressure too, even as infants.

High Blood Pressure in Kids

An estimated 3% of kids have high blood pressure. In babies, it's usually caused by prematurity or problems with the kidneys or heart. While hypertension is far more common among adults, the rate among kids is on the rise, a trend that experts link to the increase in childhood obesity.

Many kids and teens with high blood pressure have no other health problems but do have a family history of hypertension and an unhealthy lifestyle — a bad diet, excess weight, stress, and insufficient physical activity.

If it goes untreated, high blood pressure can eventually lead to damage to the heart, brain, kidneys, and eyes. But if it's caught early, monitored, and treated, a child with high blood pressure can lead an active, normal life.

Understanding Blood Pressure

Blood pressure is the pressure the blood exerts against the blood vessel walls as the heart pumps. The pressure increases when the heart contracts and pushes blood into the vessels and lowers when the heart relaxes, but there's always a certain amount of pressure in the arteries.

Blood pressure is driven by two physical forces — the one from the heart as it pumps blood into the arteries and through the circulatory system, and the other from the arteries as they resist this blood flow.

Blood pressure changes from minute to minute and is affected by activity and rest, body temperature, diet, emotional state, posture, and medications.

Long-Term Consequences of High Blood Pressure

When someone has high blood pressure, the heart and arteries have a much heavier workload. The heart must pump harder and the arteries are under greater strain as they carry blood. If high blood pressure continues for a long time, the heart and arteries may no longer work as well as they should. Other organs that are receiving the blood, like the kidneys and brain, may also be affected.

Having high blood pressure puts someone at a higher risk for stroke, heart attack, kidney failure, loss of vision, and atherosclerosis (hardening of the arteries).

While high blood pressure doesn't always cause symptoms, it still affects the body and puts a person at risk for those long-term health problems. In rare cases, severe hypertension can cause headaches, visual changes, dizziness, nosebleeds, heart palpitations, and nausea.

If your child has severe high blood pressure and has any of these symptoms, seek medical care immediately.

Measuring Blood Pressure

Doctors measure blood pressure with a sphygmomanometer, which has a cuff that's wrapped around the upper arm and pumped up to create pressure. When the cuff is inflated, it compresses a large artery in the arm, stopping the blood flow for a moment. Blood pressure is measured as air is gradually let out of the cuff, which allows blood to flow through the artery again.

The doctor or nurse will also put a stethoscope over an artery to hear the first pulse as the blood flows through — this is the systolic pressure (or the pressure at the peak of each heartbeat). The diastolic pressure (the pressure when the heart is resting between beats) is noted when the sounds disappear.

When a blood pressure reading is taken, the higher number represents the systolic pressure and the lower number represents the diastolic pressure. For example: 120/80 (120 over 80) means that the systolic pressure is 120 and the diastolic pressure is 80.

Blood pressure also can be measured by automated devices, which are good for screening, but a manual blood pressure is more accurate.

As kids grow, their blood pressure increases from a systolic pressure of about 70-90 in an infant to adult values in a teenager. Among young kids, the "normal" range will depend on gender, age, and height; your doctor will be able to compare your child's blood pressure with national norms.

In kids, high blood pressure is defined as a blood pressure greater than the 95th percentile for their age, height, and gender (in other words, 95% of kids of the same age, height, and gender will have blood pressure below this number).

It's not unusual for a first blood pressure reading to be high because a child is nervous, so the doctor will likely take three readings and use an average of the three to determine whether your child has high blood pressure or is at risk for developing it.

Some doctors use a test called ambulatory blood pressure monitoring in which a child wears a blood pressure cuff all day. Some consider it more accurate than blood pressure tests in the doctor's office because the child is less likely to be affected by any stress from the doctor visit.

Causes of High Blood Pressure

The causes of high blood pressure differ, depending on the age of the child. The younger the child, the more likely the high blood pressure is linked to some other illness.

High blood pressure among infants most commonly occurs in those born prematurely. Some newborns have high blood pressure because of problems with the kidneys (most commonly), lungs, heart, or vascular system. Often, these problems are due to bronchopulmonary dysplasia, an immaturity of the lungs in premature babies, or problems like coarctation of the aorta, a narrowing of part of the major blood vessel that transports blood away from the heart.

Among school-age kids and teens, hypertension is usually linked to excess weight. In some cases it's due to a problem with the kidneys, although other conditions — like abnormalities in the blood vessels and hormonal disorders — can also be responsible. Some medications (such as steroids or oral contraceptives) can lead to high blood pressure, as can overconsumption of alcohol and illegal drugs.

Diagnosing High Blood Pressure

Because high blood pressure usually doesn't produce any symptoms, diagnosing the condition in kids can be tricky. Blood pressure varies a lot from day to day so several blood pressure checkups are often necessary to make the diagnosis (unless the pressure is very high when treatment is needed promptly).

The only way to know whether a child has high blood pressure is to get it checked regularly. Doctors usually start measuring blood pressure during routine checkups when kids are 3 years old. So it's important not to miss these appointments, particularly if your child is obese or if there's a family history of high blood pressure.

Treating High Blood Pressure

If an underlying illness is causing hypertension, treating that illness may be enough to get the blood pressure back to normal. If there's no underlying illness, the doctor may recommend weight loss, increased intake of fruits and vegetables, decreased salt intake, increased exercise, and even relaxation techniques. Kids with hypertension should also quit or never start smoking, which can worsen the long-term associated heart problems.

Most doctors prefer not to prescribe medication for kids with mild hypertension. However, in cases in which lifestyle changes do not bring improvement, medications may be necessary.

Exercise and participation in organized sports is encouraged for all patients whose hypertension is not severe or is well-controlled. In fact, staying fit is the key to both weight and blood pressure control.

If your child is overweight, an ongoing weight-loss program monitored by your doctor and a minimum of 30 minutes of aerobic exercise every day may be recommended. But kids with severe hypertension should not participate in weight- or power-lifting, bodybuilding, or strength training until their blood pressure is under control and a doctor OK's it.

Although rare in kids, mild to moderate hypertension over time can cause damage to the heart, kidneys, and blood vessels. Diagnosing and treating high blood pressure will help prevent this damage.

Hereditary Hemochromatosis

2009-04-12T01:00:00.000-07:00

Hereditary hemochromatosis is a genetic disease that causes the body to absorb and store too much iron. The condition gets its name from "hemo" for blood and "chroma" for color, referring to the characteristic bronze skin tone that iron overload can cause. Someone with hereditary hemochromatosis who has never taken an iron supplement could find out in later years that iron overload is causing serious health problems.

Iron is a trace mineral that plays a vital role in the body. Every red blood cell contains iron in its hemoglobin, the pigment that carries oxygen from the lungs to the tissues. We get iron from our diet, and normally the body absorbs approximately 10% of the iron found in foods. People with hemochromatosis absorb double that amount.

Once absorbed, the excess iron doesn't leave the body. Instead, it's stored in synovium (joints) and major organs such as the liver, heart, brain, pancreas, and lungs. Over many years, iron accumulates to toxic levels that can damage or even destroy an organ. The iron overload can cause many health problems, most frequently a form of diabetes that's often resistant to insulin treatment. Because of this, hereditary hemochromatosis is sometimes called "bronze diabetes."

Some people with the disease develop symptoms by age 20, although signs of the condition usually appear between ages 40 and 60, when iron in the body has reached damaging levels. Women are less likely to develop symptoms of iron buildup than men, probably due to normal iron loss during menstruation.

However, hereditary hemochromatosis should not be considered a disease of older people or men. Iron buildup is often present and silently causing problems long before symptoms occur — in men, women, adolescents, and in rare cases, children.

Causes of Hereditary Hemochromatosis

Although many people have never heard of the condition, hereditary hemochromatosis actually isn't rare at all. The condition affects as many as 1 in every 200 people in the United States, according to the Centers for Disease Control and Prevention (CDC).

Hereditary hemochromatosis is a genetic disorder caused by a mutation on a gene that regulates iron absorption — 1 in every 8 to 10 people in the United States carries a single copy of this defective gene, called HFE. Carriers don't necessarily have the condition themselves, but can pass the mutated gene on to their children.

Hereditary hemochromatosis is an autosomal recessive condition, which means that in order to get it, a child must inherit two mutated HFE genes — one from each parent. If a child inherits just one mutated HFE gene, the normal gene essentially balances out the defective HFE gene.

Even with two mutated genes, not everyone becomes ill. Although a majority of those with two mutated genes will eventually develop some type of iron overload, far fewer of these people will absorb enough iron to develop serious problems.

In some cases, inheriting only one mutated gene may still eventually lead to iron overload, possibly affecting the heart, according to the Iron Disorders Institute. In these people, the iron overload may be triggered by a precipitating factor, such as hepatitis (inflammation of the liver) or alcohol abuse. Individuals with one mutated gene who become ill may also have mutations in other genes, yet to be discovered, that increase iron absorption.

Signs and Symptoms

Some people who test positive for hereditary hemochromatosis remain symptom-free for life. Kids who test positive rarely have any symptoms because iron takes years to accumulate.

Patients who do have symptoms may experience:

muscle aches and joint pain, primarily in the fingers, knees, hips, and ankles; one of the earliest symptoms is arthritis of the knuckles of the first and second fingers
chronic fatigue
depression, disorientation, or memory problems
stomach swelling, abdominal pain, diarrhea, or nausea
loss of body hair, other than that on the scalp
premature menopause
gray or bronze skin similar to a suntan
heart problems
diabetes
enlarged liver
increased susceptibility to bacterial infections

With such a wide range of possible symptoms, the disease can be extremely difficult to diagnose. As symptoms progress, it's frequently misdiagnosed as chronic hepatitis, other forms of diabetes, Alzheimer's disease, iron deficiency, gallbladder illness, menstrual problems, thyroid conditions, or polycythemia (an increase in the number of red blood cells).

It's important to understand that someone with hereditary hemochromatosis can have some symptoms without having all of them (i.e., heart problems without skin color changes, diabetes, or liver problems).

Diagnosis and Screening

Luckily, the damage from hereditary hemochromatosis is completely preventable if the condition is diagnosed and treated early. Doctors may use several blood tests to measure the amount of iron in the blood and diagnose iron overload:

Serum ferritin measures the blood level of the protein that stores iron many places in the body.
Serum iron measures iron concentrations in the blood.
Total iron-binding capacity (TIBC) measures the amount of iron that can be carried in the blood.
With these results, a transferrin saturation percentage (transferrin is a protein that carries iron in the blood) is calculated by dividing the TIBC into the serum iron. An elevated transferrin saturation percentage or serum ferritin level points to iron overload.

Several gene mutations can cause hemochromatosis. A genetic test is available for the most common type of hemochromatosis, which accounts for about 85% of cases in the United States. However, only some of those who test positive will actually develop serious illness. The other 15% of individuals with symptomatic hemochromatosis will have mutations not in the HFE gene, but in other genes, which may be unknown or for which gene testing isn't routinely available.

Therefore, in cases in which high transferrin saturation and high serum ferritin are found but gene testing doesn't confirm hemochromatosis, a liver biopsy may be needed to determine whether symptomatic hemochromatosis exists or is likely to develop.

Also, the doctor may recommend a DNA test to confirm hereditary hemochromatosis when a spouse or first-degree relative (parent, child, or sibling) has been diagnosed with the disease.

Given the prevalence of the condition, some specialists suggest screening to detect hereditary hemochromatosis before it causes problems. The following approaches to screening have been suggested:

The College of American Pathologists recommends transferrin saturation testing on all adults at age 20, and every 5 years thereafter for anyone who has a family history of the condition.
The American Hemochromatosis Society proposes genetic screening for newborns to potentially benefit both the child and the rest of the family.
All children have routine iron testing at age 4 and that those who have a genetic risk, but remain symptom-free, be tested every 5 years on a lifetime basis.

If you have a family history of hereditary hemochromatosis and are concerned about your child, talk to your doctor about screening tests.

Treatment

Besides specific treatment for complications of the condition — such as insulin for diabetes — most individuals with hereditary hemochromatosis are treated by regularly drawing blood, a process called phlebotomy that's similar to making a blood donation.

Initially, blood may be drawn once or twice weekly during the "de-ironing" phase until the level of iron in the body has dropped to normal. In many cases, it requires 2 or 3 years of periodic phlebotomy to reach the desired level.

After the de-ironing phase, when the serum ferritin level has fallen into the normal range, the patient usually remains on a maintenance schedule of three to four phlebotomy sessions a year. Doctors check ferritin levels annually to monitor iron accumulation. For most people, this treatment will continue for life.

Complications

When detected and treated early, any and all symptoms of hereditary hemochromatosis can be prevented, and the person can live a normal life. If left untreated, however, hereditary hemochromatosis can lead to damaging or even fatal iron overload.

Complications of untreated iron overload include: diabetes, arthritis, depression, impotence, hypogonadism (deficient production of sex hormones by the testicle or ovary), gallbladder disease, cirrhosis (disease and scarring of the liver), heart attack, cancer, and failure of other organs.

Caring for Your Child

Treatment for kids typically isn't as aggressive as for adults, and implementing some minor dietary changes can help slow iron accumulation.

Talk to your doctor about taking preventive measures to delay or reduce iron overload. You might:

Limit red meat in your child's diet. Iron-rich vegetables are fine because the body doesn't absorb iron from plant sources very well.
Include moderate amounts of black, green, or oolong tea in your child's diet. The tannin from tea helps minimize iron absorption (herbal tea doesn't contain tannin).
Avoid breakfast cereals, breads, and snacks that are enriched with iron.
Ensure your child is immunized against hepatitis A and B.
Limit vitamin C supplements to less than 100 milligrams per day, because vitamin C enhances iron absorption.
Use a children's multivitamin that doesn't contain iron.
Avoid raw shellfish, which occasionally can be contaminated with bacteria that might be harmful to someone with an iron overload.

These simple steps can help ensure that your child will remain free of symptoms of the disease.

Heart Murmurs

2009-04-05T01:00:00.000-07:00

Many parents fear the worst when their child is diagnosed with a heart murmur, but this diagnosis is actually extremely common. In fact, many kids are found to have a heart murmur at some point during their lives. Most murmurs are not a cause for concern and do not affect the child's health at all.

What exactly is a heart murmur? By itself, the term heart murmur isn't a diagnosis of an illness or disorder. To better understand what it does mean, it's important to know how the heart works.

How the Heart Works

The normal heart has four chambers and four valves (which function like one-way doors). The two lower pumping chambers of the heart are called the ventricles, and the two upper filling chambers are the atria (singular is atrium).

Here's how blood moves in normal circulation: Blood that returns from the body to the filling chamber on the right side (the right atrium) is low in oxygen. This blood passes across a valve (the tricuspid valve) to the pumping chamber on the right side (the right ventricle) and then travels across the pulmonary valve to the lungs to receive oxygen. The oxygen-enriched blood returns to the filling chamber on the left side (the left atrium), then across a valve (the mitral valve) to the pumping chamber on the left side (the left ventricle). The blood is then pumped across the aortic valve out to the body through the aorta, a large blood vessel that carries blood to the smaller blood vessels in the body to deliver oxygen.

Using a stethoscope, a doctor examines the heart by listening to the sounds it makes. The familiar "lub-dub" sound of a normal heartbeat is caused by the closing sound of the valves as the heart squeezes to push blood through the body. A heart murmur describes an extra sound in addition to the "lub-dub." Sometimes these extra sounds are simply the sound of normal blood flow moving through a normal heart. Other times, a murmur may be a sign of a heart problem.

How Are Heart Murmurs Diagnosed?

A murmur is heard during the heart listening exam, using a stethoscope held at different areas on the front of the chest as the heart beats. Heart murmurs can be heard in infants as well as older children and teens. Of course, if the child is crying, uncooperative to the examiner, or breathing loudly, it may not be possible to hear a murmur. It helps if the child is quiet when the doctor listens, since some heart murmurs are very soft. The doctor may have a parent help by calming the child or having the child sit in the parent's lap during the exam.

Heart murmurs are rated on a scale from 1 to 6 in intensity (loudness). Grade 1 is barely audible, whereas grade 6 is very loud. Your child's doctor will note where on the chest the murmur is best heard, the characteristics of the murmur (for example, whether it's harsh and high-frequency or soft and blowing), where it occurs in the heartbeat cycle, and whether it changes when your child changes position. After this initial discovery, the doctor may refer your child to a pediatric cardiologist for further evaluation.

It's not unusual for a murmur to be noticed during a check-up, even though no murmur was heard before. This is for several reasons. Innocent murmurs tend to come and go, depending on the child's heart rate, position during the exam, and the presence of fever. Some new murmurs may be a sign of a newly-developed heart problem. Finally, some heart problems present from birth (congenital heart problems) may not initially be severe enough to cause a murmur that can be detected during examination.

Because of the common misconception that all heart murmurs are serious, it's important for parents to understand which type of murmur their child has and if it needs further evaluation.

What's an Innocent Murmur?

The most common type of heart murmur is called functional or innocent. This diagnosis means the murmur is produced by a normal, healthy heart. It can come and go throughout childhood. It usually goes away on its own as the child gets older and doesn't pose any health threat.

Kids with innocent heart murmurs don't require a special diet, restriction of activities, or any other special treatment. They do not need to take a dose of antibiotic before going to the dentist. Those old enough to understand that they have a heart murmur should be reassured that they aren't any different from other kids. In other words, an innocent murmur is the sound of normal blood moving through a normal heart in a normal way. A simple analogy is that just as we can sometimes hear the sound of air moving in an air duct, or water flowing through a plumbing pipe, we can often hear the sound of blood moving through the heart even if there is not a heart problem.

What About Congenital Heart Defects?

Some murmurs may indicate a problem with the heart. If the doctor suspects something other than an innocent heart murmur, your child will see a pediatric cardiologist, who may order or perform additional tests such as a chest X-ray, an EKG (an electrocardiogram), or an echocardiogram. An echocardiogram, or "echo," is an ultrasound picture of the heart structures (chambers, walls, and valves). It records the motion of the blood through the heart and can measure the direction and speed of blood flow within the heart structures.

About 1 out of every 100 babies is born with a structural heart problem, or congenital heart defect. These babies may show signs of their defect as early as the first few days of life, or they may appear completely healthy until later in childhood. Some kids won't show any symptoms beyond a heart murmur, while others will have symptoms that could be mistaken for other illnesses or disorders.

Symptoms of a significant heart defect in newborns and infants can include:

rapid breathing
difficulty feeding
blueness in the lips (called cyanosis)
failure to thrive

Symptoms in an older child or adolescent may be:

fatigue
difficulty exercising or doing physical activity
chest pain

Contact your doctor if you notice any of these symptoms.

Congenital heart defects can be seen in chromosomal disorders such as trisomy 21 (Down syndrome), or associated with specific gene abnormalities. Babies with other birth defects may also have heart defects. Exposure to certain chemicals, including alcohol, or medications before birth can be associated with congenital heart disease. While some parents may have more than one child with a heart defect, most heart defects aren't considered to be hereditary. In most cases, however, children with congenital heart defects have no known risk factors.

Maternal health also plays a role. At a higher risk of having a baby with a heart defect are pregnant women who:

contract rubella (German measles)
have uncontrolled or poorly regulated diabetes
have PKU (phenylketonuria, a genetic error of the body's metabolism)

Common Heart Defects

Several different categories of heart problems can present with heart murmurs. These include septal defects, valve abnormalities, abnormalities of flow between the heart chambers and the exits (outflow tract obstruction), and heart muscle disorders.

Septal defects involve the walls (or septum) between the upper or lower chambers of the heart. A hole in the septum can result in blood flowing through it into the heart's other chambers. This extra blood flow may cause a murmur. It can also make the heart work too hard and may cause the heart to enlarge. Some holes may be large enough to produce symptoms in addition to a heart murmur; others are smaller and may close on their own in time.
Valve abnormalities are caused by heart valves that are narrow, too small, too thick, or otherwise abnormal. Valves that are misshapen don't allow smooth blood flow across them, and this creates turbulent flow. Sometimes, abnormal valves may allow backflow of blood within the heart. Either condition will cause a murmur. Outflow tract obstruction may be caused by extra tissue or heart muscle that blocks the smooth flow of blood through the heart.
Heart muscle disorders (cardiomyopathy) can make the heart muscle abnormally thick or weak. This can impair the heart's ability to pump blood to the body normally.

A heart murmur is an exam finding, not a disease. Your doctor and pediatric cardiologist can determine if the murmur is innocent (which means your child is perfectly healthy) or if there is a specific heart problem. If there is a problem, a pediatric cardiologist will know how to best take care of it.

Congenital Heart Defects

2009-03-29T01:00:00.000-07:00

Congenital heart defects are abnormalities in the heart's structure that are present at birth. Approximately 8 out of every 1,000 newborns have congenital heart defects, ranging from mild to severe.

Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy. Some are known to be associated with genetic disorders, such as Down syndrome, but the cause of most congenital heart defects is unknown. While they can't be prevented, there are many treatments for the defects and any related health problems.

How a Healthy Heart Works

To understand more about congenital heart defects, it's helpful to understand how a healthy heart works.

The heart, lungs, and blood vessels make up the circulatory system of the human body. The heart is the central pump of the circulatory system, and consists of four chambers — the left atrium and left ventricle and the right atrium and right ventricle.

The heart also has four valves that direct the flow of blood through the heart:

The left atrium of the heart receives oxygen-rich blood from the lungs and then empties into the left ventricle through the mitral valve.
The left ventricle pumps oxygen-rich blood out to the rest of the body. Blood leaves the left ventricle through the aortic valve and enters the aorta, the largest artery (a blood vessel that carries oxygenated blood) in the body. Blood then flows from the aorta into the branches of many smaller arteries, providing the body's organs and tissues with the oxygen and nutrients they need.
After oxygen in the blood is released to the tissues, the now deoxygenated (oxygen-poor) blood returns to the heart through veins, the blood vessels that carry deoxygenated blood. This blood, which appears blue, enters the right atrium of the heart and then travels across the tricuspid valve into the right ventricle.
The right ventricle then pumps deoxygenated blood through the pulmonic valve into the lungs. The oxygen in the air we breathe binds to cells within this blood that is being pumped through the lungs. The oxygen-rich blood, which appears red, then returns to the left atrium and enters the left ventricle, where it is pumped out to the body once again.

This is the normal pathway that blood travels through the heart and the body. However, abnormalities in the heart's structure — such as congenital heart defects — can affect its ability to function properly.

Common Heart Defects

Common types of congenital heart defects, which can affect any part of the heart or its surrounding structures, include:

Aortic Stenosis

In aortic stenosis, the aortic valve is stiffened and has a narrowed opening (a condition called stenosis). It does not open properly, which increases strain on the heart because the left ventricle has to pump harder to send blood out to the body. Sometimes the aortic valve also does not close properly, causing it to leak, a condition called aortic regurgitation.

Atrial Septal Defect (ASD)

ASD is a hole in the wall (called the septum) that separates the left atrium and the right atrium.

Atrioventricular Canal Defect

This defect — also known as endocardial cushion defect or atrioventricular septal defect — is caused by a poorly formed central area of the heart. Typically there is a large hole between the upper chambers of the heart (the atria) and, often, an additional hole between the lower chambers of the heart (the ventricles). Instead of two separate valves allowing flow into the heart (tricuspid on the right and mitral valve on the left), there is one large common valve, which may be quite malformed. Atrioventricular canal defect is commonly seen in children with Down syndrome.

Coarctation of the Aorta (COA)

COA is a narrowing of a portion of the aorta, and often seriously decreases the blood flow from the heart out to the lower portion of the body.

Hypoplastic Left Heart Syndrome

When the structures of the left side of the heart (the left ventricle, the mitral valve, and the aortic valve) are underdeveloped, they're unable to pump blood adequately to the entire body. This condition is usually diagnosed within the first few days of life, at which point the baby may be critically ill.

Fortunately, many of these infants are recognized to have serious heart disease even before birth on ultrasound tests. A fetal echocardiogram is a specialized ultrasound that allows doctors to see the baby's heart in great detail and plan the best care for the baby while still in utero.

Patent Ductus Arteriosus (PDA)

The ductus arteriosus (DA) is a normal blood vessel in the developing fetus that diverts circulation away from the lungs and sends it directly to the body. (The lungs are not used while the unborn fetus is in amniotic fluid — the fetus gets oxygen directly from the mother's placenta.) The DA usually closes on its own shortly after birth; it is no longer needed once a newborn breathes on his own. If the DA doesn't close, then a condition called patent ductus arteriosus (PDA) results, which can result in too much blood flow to a newborn's lungs. PDA is common in premature babies.

Pulmonary Atresia

In this defect the pulmonic valve does not open at all and may indeed be completely absent. The main blood vessel that runs between the right ventricle and the lungs also may be malformed and the right ventricle can be abnormally small.

Pulmonary Stenosis

In pulmonary stenosis, the pulmonic valve is stiffened and has a narrowed opening (a condition called stenosis). It does not open properly, which increases strain on the right side of the heart because the right ventricle has to pump harder to send blood out to the lungs.

Tetralogy of Fallot (TOF)

Tetralogy of Fallot is actually a combination of four heart defects. It includes pulmonary stenosis, a thickened right ventricle (known as ventricular hypertrophy), a hole between the lower chambers (known as a ventricular septal defect), and an aorta that can receive blood from both the left and right ventricles, instead of draining just the left. Because deoxygenated (blue) blood can flow out to the body, children with this defect often appear bluish.

Total Anomalous Pulmonary Venous Connection

The pulmonary veins normally are the blood vessels that deliver oxygenated blood from the lungs to the left atrium. Sometimes these vessels don't join the left atrium during development. Instead they deliver blood to the heart by other pathways, which may be narrowed. Pressure builds up in this pathway and in the pulmonary veins, pushing fluid into the lungs, decreasing the amount of oxygenated blood that reaches the body. These infants often have difficulty breathing and appear bluish.

Transposition of the Great Arteries

In this condition, the pulmonary artery and the aorta (the major blood vessels leaving the heart) are switched so that the aorta arises from the right side of the heart and receives blue blood, which is sent right back out to the body without becoming oxygen-rich. The pulmonary artery arises from the left side of the heart, receives red blood and sends it back to the lungs again. The result is that babies with this condition often appear very blue and have low oxygen levels in the bloodstream. They usually come to medical attention within the first days of life.

Tricuspid Atresia

Blood normally flows from the right atrium to the right ventricle through the tricuspid valve. In tricuspid atresia, the valve is replaced by a plate or membrane that does not open. The right ventricle therefore does not receive blood normally and is often small.

Truncus Arteriosus

In an embryo, the aorta and the pulmonary artery are initially a single vessel. During normal development, that vessel splits to form the two major arteries. If that split does not occur, the child is born with a single common great blood vessel called the truncus arteriosus. There is usually a hole between the ventricles associated with this defect.

Ventricular Septal Defect (VSD)

One of the most common congenital heart defects, VSD is a hole in the wall (septum) between the heart's left and right ventricles. These can occur at different locations and vary in size from very small to very large. Some of the smaller defects may gradually close on their own.

Signs and Symptoms of Heart Defects

Because congenital defects often compromise the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs such as:

a bluish tinge or color (cyanosis) to the lips, tongue and/or nailbeds
an increased rate of breathing or difficulty breathing
poor appetite or difficulty feeding (which may be associated with color change)
failure to thrive (failure to gain weight or weight loss)
abnormal heart murmur
sweating, especially during feedings
diminished strength of the baby's pulse

If you notice any of these signs in your baby or child, call your doctor right away. If your doctor notices these signs, you may be referred to a pediatric cardiologist.

Diagnosing a Heart Defect

If a congenital defect is suspected, your doctor may refer you to a pediatric cardiologist. Some congenital heart defects cause serious symptoms right at birth, requiring newborn intensive care in the hospital and immediate evaluation by a cardiologist. Other defects, like small atrial septal defects, may go undiagnosed until the teen — or even adult — years.

After a complete physical examination, including evaluation of the baby's heart rate and blood pressure, the cardiologist probably will order a chest X-ray to evaluate the size and shape of the heart and to view the lungs.

An electrocardiogram (EKG) is usually done, too. EKGs are performed by placing small pads (called leads) on your child's chest, which are wired to a monitor that records and prints out the electrical signals of the heart.

The cardiologist will often order an echocardiogram, which provides detailed images of the heart by using ultrasound. Specialized ultrasound waves can demonstrate all of the heart chambers and valves, the great arteries arising from the heart, and the direction and speed of blood flow in various areas of the heart. Echocardiograms can also evaluate whether the heart is squeezing and relaxing normally. Echocardiograms are the primary tool for diagnosing congenital heart defects.

A fetal echocardiogram is a specialized type of ultrasound that allows diagnosis of heart problems in utero. This can be done as early as 16-18 weeks' gestation. These tests are usually ordered when an obstetrician suspects a heart abnormality on a level II ultrasound. They are also often ordered if there is another close family member with a congenital heart defect or when mom has a condition, such as diabetes, which may predispose a heart problem in the fetus.

Cardiac catheterization is sometimes performed as well. During this procedure, a long, thin tube called a catheter is threaded through blood vessels in the navel (in a newborn) or the groin and up into the heart. Once in place, the catheter can measure the oxygen levels and pressures within the heart's chambers. Dye may be injected through the catheter to better illustrate the heart's inner structures and determine the direction of blood flow through the heart. Nowadays, a number of congenital heart defects can be fixed in the cardiac catheterization laboratory. For instance, there are devices that can be used to close holes in the heart or to open up tight valves or narrowed blood vessels.

A pediatric cardiologist is the doctor most qualified to diagnose a congenital heart defect and provide treatment. This is true even before a baby is born. If you are an expectant parent and your baby has been diagnosed with a congenital heart defect via a fetal ultrasound, consult a pediatric cardiologist.

If You Suspect a Problem

If you think your child may have a congenital heart defect or you notice any signs (such as difficulty breathing or feeding, or bluish skin) that concern you, call your doctor. In more urgent cases, such as if your baby suddenly turns blue or stops breathing, call 911.

Today there are more treatment options for congenital heart defects than ever before, and most defects are treated successfully. If you suspect that your child has a heart defect, the sooner you get medical attention, the better chance your child will have of making the fullest recovery possible.

With all the medical resources available, a congenital heart defect does not necessarily mean a child cannot lead a normal life. Working with your doctor, you'll get the best care for your child.

Coarctation of the Aorta

2009-03-22T01:00:00.000-07:00

The aorta is the major blood vessel that carries blood away from the heart to the body. When someone has coarctation of the aorta, the aorta is narrowed at some point.

Here's how a healthy heart and aorta work: Blood that needs oxygen comes from all over the body and enters the right side of the heart, which pumps it to the lungs. The lungs fill the blood with oxygen, and this oxygen-rich blood returns from the lungs to the left side of the heart. The left side of the heart finishes up by pumping the blood out through the aorta. From the aorta, the blood travels through arteries that reach all of the body's organs and tissues, bringing them oxygen. Then the blood returns to the heart through veins and begins the cycle once again.

When part of the aorta is narrowed, called a coarctation, that defect can affect the body's blood circulation because the left side of the heart has to work harder to pump blood through the narrowed aorta. Sometimes the narrowing is minor and may not even cause symptoms. In other cases the aorta may be more constricted, placing a strain on the heart's left ventricle (the chamber that pumps blood to the aorta and out to the body). A coarctation can occur anywhere in the aorta, but it is most often found after the point where the arteries that carry blood to the upper body and head branch off from the aorta.

What Causes Coarctation of the Aorta?

Coarctation of the aorta (or COA for short) is a congenital defect, meaning that someone is born with it. About 1 in 100 children is born with a heart problem, and coarctation represents about 8% of cases. Doctors don't know for sure why certain people are born with this narrowing of the aorta.

Coarctation occurs more commonly in boys. However, it is commonly seen in girls with Turner syndrome, in which one of a girl's two X chromosomes is incomplete or missing. COA may occur with other birth defects or congenital heart conditions, such as a ventricular septal defect (a hole in the wall between the heart's left and right ventricles).

Coarctation can also be associated with abnormalities of the other structures of the left side of the heart. A common association is a bicuspid aortic valve, in which the aortic valve between the left ventricle and aorta has two leaflets instead of the normal three.

Most people with COA are diagnosed when they are babies or young children. But some may not be diagnosed until they are teens or even adults. Usually, in this case, the narrowing in the aorta is not severe enough to cause serious symptoms while the person is very young. But even those who do not have major symptoms usually need to be treated because the coarctation can eventually cause problems. COA will not go away on its own.

Signs and Symptoms

Often an abnormal blood pressure test is the first sign of COA detected by a doctor. During a physical exam, the doctor may find that a child with a coarctation has a higher blood pressure in the arms than in the legs. The doctor may also hear a heart murmur or notice that the pulse in the groin is weak or difficult to feel. Any person diagnosed with high blood pressure should be checked for coarctation of the aorta.

Kids who have COA often do not have any symptoms and have only mild signs that are discovered by accident during a regular visit to the doctor. A child who does have symptoms may experience some or all of these:

cold legs and feet
shortness of breath, especially when exercising
chest pain

Diagnosis and Treatment

Doctors may refer a child with the signs or symptoms of COA to a pediatric cardiologist — a doctor who specializes in diagnosing and treating heart disease in kids and teens. The cardiologist will listen to the heart, feel the pulses, and check blood pressure. The doctor will probably order an echocardiogram, a test that uses sound waves to create a picture of the heart and its circulation. Other tests that produce images of the heart, such as a chest X-ray, a magnetic resonance imaging (MRI) test, or a computerized tomography (CT) scan, may also be used to help the cardiologist look for a narrowing of the aorta.

A severe coarctation is usually diagnosed shortly after birth and repaired by surgery immediately. In an older patient, doctors often recommend that COA be treated quickly, since it can cause persistent high blood pressure and cause heart enlargement. The defect can also cause dissection or rupture of the aorta, which can be fatal in many people by the age of 40.

Coarctation of the aorta can be repaired either by surgery or other procedures. Different types of surgery can repair a narrowing of the aorta, but one of the most common ways to fix COA is to remove the narrow section and reconnect the two ends of the aorta.

In some cases, doctors may choose to do a procedure known as balloon dilation or balloon angioplasty. They insert a tiny balloon into a blood vessel in the leg and use a very thin wire to thread it up to the aorta, across the narrow area. When the doctor inflates the balloon, the narrow area is expanded. After the area has been widened, the balloon is removed. The cardiologist may also implant a device called a stent to keep the area open after the procedure.

Home Care

Once the defect has been fixed, most symptoms of COA disappear right away because the blockage that caused those symptoms is now gone. Some people will still have high blood pressure for a while and may have to take medicine to control it.

Kids and teens who have had surgery often feel completely better after a week or two, and those who have had the balloon treatment feel better even sooner, often within a couple of days. But doctors recommend that all patients avoid some physical activities — especially lifting heavy objects or sports that could cause an impact to the chest — for several weeks or months to give their bodies enough time to heal. Someone whose blood pressure remains high may have to continue to limit certain activities as long as the blood pressure remains high.

Kids who've had a COA corrected will still need to be monitored over time. In some, the narrowing of the aorta can return after surgery or balloon dilation treatment. Regular visits to a cardiologist — often every year or two after recovery — let the doctor monitor blood pressure and look for signs that COA could be returning.

If your child has COA or has had a coarctation repaired, call the doctor if he or she has shortness of breath, chest pain, or fainting. Overall, kids who have had coarctation of the aorta can expect to continue leading a normal life after their treatment.

Atrial Septal Defect

2009-03-15T01:00:00.000-07:00

An atrial septal defect (ASD) — sometimes referred to as a hole in the heart — is a type of congenital heart defect in which there is an abnormal opening in the dividing wall between the upper filling chambers of the heart (the atria). In most cases ASDs are diagnosed and treated successfully with few or no complications.

What Is an Atrial Septal Defect?

To understand this defect, it first helps to review some basics about the way a healthy heart typically works.

The heart has four chambers: The two lower pumping chambers are called the ventricles, and the two upper filling chambers are the atria.

In a healthy heart, blood that returns from the body to the right-sided filling chamber (right atrium) is low in oxygen. This blood passes to the right-sided pumping chamber (right ventricle), and then to the lungs to receive oxygen. The blood that has been enriched with oxygen returns to the left atrium, and then to the left ventricle. It's then pumped out to the body through the aorta, a large blood vessel that carries the blood to the smaller blood vessels in the body. The right and left filling chambers are separated by a thin shared wall, called the atrial septum.

Kids with an atrial septal defect (ASD) have an opening in the wall (septum) between the atria. As a result, some oxygenated blood from the left atrium flows through the hole in the septum into the right atrium, where it mixes with oxygen-poor blood and increases the total amount of blood that flows toward the lungs. The increased blood flow to the lungs creates creates a swishing sound, known as a heart murmur. This heart murmur, along with other specific heart sounds that can be detected by a cardiologist, may be clues that a child has an ASD.

ASDs can be located in different places on the atrial septum, and they can be different sizes. The symptoms and medical treatment of the defect will depend on those factors. In some rare cases, ASDs are part of more complex types of congenital heart disease. It's not clear why, but ASDs are more common in girls than in boys.

What Causes an ASD?

ASDs occur during fetal development of the heart and are present at birth. During the first weeks after conception, the heart develops. If a problem occurs during this process, a hole in the atrial septum may result.

In some cases, the tendency to develop a ASD may be genetic. There can be genetic syndromes that cause extra or missing pieces of chromosomes that can be associated with ASD. For the vast majority of children with a defect, however, there's no clear cause of the ASD.

Signs and Symptoms of an ASD

The size of an ASD and its location in the heart will determine what kinds of symptoms a child experiences. Most children who have ASDs seem healthy and appear to have no symptoms. Generally, kids with an ASD feel well and grow and gain weight normally. Infants and children with larger, more severe ASDs, however, may possibly show some of the following signs or symptoms:

poor appetite
poor growth
fatigue
shortness of breath
lung problems and infections, such as pneumonia

If an ASD is not treated, health problems can develop later, including an abnormal heart rhythm (known as an atrial arrhythmia) and problems in how well the heart pumps blood. As kids with ASDs get older, they may also be at an increased risk for stroke, since a blood clot that develops can pass through the hole in the wall between the atria and travel to the brain. Pulmonary hypertension (high blood pressure in the lungs) may also develop over time in older patients with larger untreated ASDs.

Fortunately, most kids with ASD are diagnosed and treated long before the heart defect causes physical symptoms. Because of the complications that ASDs can cause later in life, pediatric cardiologists often recommend closing ASDs early in childhood.

Diagnosing an ASD

Generally, a child's doctor hears the heart murmur caused by ASD during a routine checkup or physical examination. ASDs are not always diagnosed as early in life as other types of heart problems, such as ventricular septal defect (a hole in the wall between the two ventricles). The murmur caused by an ASD is not as loud and may be more difficult to hear than other types of heart murmurs, so it may be diagnosed any time between infancy and adolescence (or even as late as adulthood).

If a doctor hears a murmur and suspects a heart defect, the child may be referred to a pediatric cardiologist, a doctor who specializes in diagnosing and treating childhood heart conditions. If an ASD is suspected, the cardiologist may order one or more of the following tests:

chest X-ray, which produces an image of the heart and surrounding organs
electrocardiogram (EKG), which records the electrical activity of the heart and can indicate volume overload of the right side of the heart
echocardiogram (echo), which uses sound waves to produce a picture of the heart and to visualize blood flow through the heart chambers. This is often the primary tool used to diagnose ASD.

Treating an ASD

Once an ASD is diagnosed, treatment will depend on the child's age and the size, location, and severity of the defect. In kids with very small ASDs, the defect may close on its own. Larger ASDs usually won't close, and must be treated medically. Most of these can be closed in a cardiac catheterization lab, although some ASDs will require open-heart surgery.

A child with a small defect that causes no symptoms may simply need to visit a pediatric cardiologist regularly to ensure that there are no problems; often, small defects will close spontaneously without any treatment during the first years of life. In general, a child with a small ASD won't require restrictions on his or her physical activity.

In most children with ASD, though, doctors must close the defect if it has not closed on its own by the time a child is old enough to start school.

Depending on the position of the defect, many children with ASD can have it corrected with a cardiac catheterization. In this procedure, a thin, flexible tube called a catheter is inserted into a blood vessel in the leg that leads to the heart. A cardiologist guides the tube into the heart to make measurements of blood flow, pressure, and oxygen levels in the heart chambers. A special implant can be positioned into the hole in the septum. The device is designed to flatten against the septum on both sides to close and permanently seal the ASD. In the beginning, the natural pressure in the heart holds the device in place. Over time, the normal tissue of the heart grows over the device and covers it entirely. This non-surgical technique for closing an ASD eliminates the scar on the chest needed for the surgical approach, and has a shorter recovery time, usually just an overnight stay in the hospital.

Because there is a small risk of blood clots forming on the closure device while new tissue heals over it, children who undergo device closure of an ASD may need to be on medications for several months after the procedure to prevent clots from forming.

If surgical repair for ASD is necessary, a child will undergo open-heart surgery. In this procedure, a surgeon makes a cut in the chest and a heart-lung machine is used to do the work of the circulation while the heart surgeon closes the hole. The ASD may be closed directly with stitches or by sewing a patch of surgical material over the defect. Eventually, the tissue of the heart heals over the patch or stitches, and by 6 months after the surgery, the hole will be completely covered with tissue.

For 6 months following catheterization or surgical closure of an ASD, antibiotics are recommended before routine dental work or surgical procedures to prevent infective endocarditis. Once the tissue of the heart has healed over the closed ASD most people who have had their ASDs corrected no longer need to worry about having a higher risk of infective endocarditis.

Your doctor will discuss other possible risks and complications with you prior to the procedure. Typically, after repair and adequate time for healing, children with ASD rarely experience further symptoms or disease.

Caring for a Child With an ASD

Kids who undergo cardiac catheterization to close an ASD usually spend the night in the hospital after the procedure. Those who have had a catheterization procedure should also be kept out of gym class or sports practice for a week; after a week, they can usually return to their normal physical activities, with their doctor's OK.

Kids who undergo surgery for their ASDs usually go home after a few days in the hospital if there are no complications. After surgical ASD repair, the main medical concern is the healing of the chest incision. In general, the younger patients are when they have their surgical repairs, the less pain they will have during recovery. The child will be watched closely for signs or symptoms that may indicate a problem. If your child has trouble breathing, is not eating, has fever, or redness or pus oozing from the incision, get medical treatment right away. In most cases, kids who have had ASD surgery recover quickly and without problems.

In the weeks following surgery or cardiac catheterization, your doctor will check on your child's progress. Your child may undergo another echocardiogram to make sure that the heart defect has closed completely. Kids who have undergone ASD repair will continue to have follow-up visits with the cardiologist.

Most children who undergo treatment for ASDs recover quickly — you may even notice that within a few weeks of treatment, your child is eating more and is more active than before surgery. However, some signs and symptoms may indicate a problem. If your child is having trouble breathing, call the doctor or take your child to the emergency department immediately. Other symptoms that may indicate a problem include:

a bluish tinge or color (cyanosis) to the skin around the mouth or on the lips and tongue
poor appetite or difficulty feeding
failure to gain weight or weight loss
listlessness or decreased activity level
prolonged or unexplained fever
increasing pain, tenderness, or pus oozing from the incision

Call your doctor if you notice any of these signs in your child after closure of the ASD.

Any time a child is diagnosed with a heart condition, it can be scary. But the good news is that your pediatric cardiologist will be very familiar with this condition and how to best manage it. Most kids who've had an ASD corrected have a normal life expectancy and go on to live healthy, active lives.

Arrhythmias

2009-03-02T01:00:00.000-08:00

An arrhythmia is an abnormal heart rhythm usually caused by an electrical "short circuit" in the heart. The heart normally beats in a consistent pattern, but an arrhythmia can make it beat too slowly, too quickly, or irregularly. This can cause the heart muscle's pumping function to work erratically, which can lead to a variety of symptoms, including fatigue, dizziness, and chest pain.

What Causes Arrhythmias?

The heart has its own conduction system, or electrical system, that sends electrical signals around the heart, telling it when to contract and pump blood throughout the body. The electrical signals originate from a group of cells in the right atrium, called the sinus node. The sinus node functions as the heart's pacemaker and makes sure the heart is beating at a normal and consistent rate. The sinus node normally increases the heart rate in response to factors like exercise, emotions, and hormones, and slows the heart rate during sleep.

However, sometimes the electrical signals flowing through the heart don't "communicate" properly with the heart muscle, and the heart can start beating in an abnormal pattern — an arrhythmia.

Arrhythmias can be temporary or permanent. They can be caused by several things, but can also occur for no apparent reason. Arrhythmias can be congenital, meaning a child is born with the condition. This can happen in a child with a birth defect of the heart, or even if a child's heart has formed normally.

Other causes of arrhythmias in kids include chemical imbalances in the blood, infections, or other diseases that cause irritation or inflammation of the heart, medications (prescription or over-the-counter), and injuries to the heart from chest trauma or heart surgery. Other factors such as illegal drugs, alcohol, tobacco, caffeine, stress, and some herbal remedies also can cause arrhythmias.

Signs and Symptoms

Because arrhythmias can cause the heart to beat less effectively, blood flow to the brain and to the rest of the body can be interrupted. If the heart is beating too fast, its chambers can't fill with the proper amount of blood. If it's beating too slowly or irregularly, the proper amount of blood can't be pumped out to the body. If the body doesn't get the supply of blood it needs to run smoothly, these symptoms can occur:

dizziness
fatigue
lightheadedness
weakness
palpitations (a feeling of fluttering or pounding in the chest)
shortness of breath
chest pain
fainting

Arrhythmias can be consistent or come and go at random. Sometimes arrhythmias can cause no detectable symptoms at all. In these cases, the arrhythmia can only be discovered during a physical examination or a heart function test.

What's a Normal Heart Rate?

Heart rate is measured by counting the number of beats per minute. Normal heart rate varies depending on factors like age and whether the person leads an active lifestyle or not (for example, trained athletes such as a teen or adult who plays competitive sports often have a lower resting heart rate).

The normal range for resting heart rate decreases from infancy to adulthood. An infant's normal resting heart rate from age 0–3 months is usually between 100 to 150 beats per minute. A child between the ages of 1–3 years typically has a resting heart rate of 70 to 110 beats per minute, and by 12 years of age will have a normal resting heart rate between 55 to 85 beats per minute.

An abnormally fast heart rate is call tachycardia. An abnormally slow rate is called bradycardia. Your doctor should help you determine whether or not your child's heart rate is abnormally fast or slow, since the significance of an abnormal heart rate depends on the situation. For example, an older child or adult with bradycardia might begin to show symptoms when his or her heart rate drops below 50 beats per minute. However, trained athletes have a lower resting heart rate — so bradycardia in these individuals isn't considered abnormal if no symptoms are associated with it.

Types of Arrhythmias

Types of arrhythmias include:

Premature Atrial Contraction (PAC) and Premature Ventricular Contraction (PVC)

PVCs are usually considered minor arrhythmias, in which someone may feel a fluttering or pounding in the chest caused by an early or extra beat. PACs and PVCs are very common, and are what happens when it feels like your heart "skips" a beat. It doesn't skip a beat — an extra beat actually comes sooner than normal. Occasional premature beats are common and considered normal, but in some cases they can indicate an underlying medical problem or heart condition.

Tachycardias

Tachycardias are arrhythmias that involve abnormally rapid heartbeat. They fall into two major categories — supraventricular and ventricular:

Supraventricular Tachycardia (SVT). Supraventricular tachycardia (SVT) is the most common significant arrhythmia in children. It's characterized by bursts of fast heartbeats that originate in the atria (upper chambers of the heart) or the heart cells that carry electrical signals from the atria to the ventricles (lower chambers of the heart). The bursts can happen suddenly, and episodes can last anywhere from a few seconds to several days. Specific treatment is usually recommended if incidents of SVT are long-lasting or frequent.
Wolff-Parkinson-White (WPW) Syndrome. Wolff-Parkinson-White (WPW) syndrome, a type of SVT, can run in families and is characterized by an extra electrical conduction path that connects the upper and lower chambers of the heart. The presence of this extra pathway can cause the heart to become flooded with electrical impulses, speeding up the heart rate.
Ventricular Tachycardia. Ventricular tachycardia is a serious but relatively uncommon condition in children. It originates in the lower chambers of the heart and is usually a sign of serious underlying heart disease.

Bradycardias

The following are examples of bradycardias — arrhythmias characterized by abnormally slow heartbeat:

Sick Sinus Syndrome. Sick sinus syndrome happens when the heart's sinus node or another part of its electrical conduction system isn't working correctly. This most commonly occurs in kids after surgery to correct a congenital heart defect. Abnormally slow heartbeat is typically seen in this condition; however, episodes of rapid heartbeat due to SVT can also occur.
Heart Block. Heart block is often caused by a congenital heart defect, although it can also result from disease or injury. Heart block happens when electrical impulses can't make their way from the upper to lower chambers of the heart. When this happens, another node in the lower chambers takes over and acts as the heart's pacemaker. Although it sends out electrical impulses to keep the heart beating, the transmission of the signals is much slower, leading to a slower heart rate.

How Are Arrhythmias Diagnosed?

Doctors use several tools to diagnose arrhythmias. It's very important to know your child's medical history and give this information to your doctor, who will use it, along with a physical examination, to begin the evaluation.

If an arrhythmia is suspected, the doctor will probably recommend an electrocardiogram (EKG) to measures the heart's electrical activity. There is nothing painful about an EKG — a series of electrodes (small metal tabs) are fixed to the skin with sticky papers, and the information obtained about the electrical activity of your child's heart is transferred to a computer, where it's then interpreted and drawn as a graph.

The doctor might recommend the following types of EKG tests:

Resting EKG. This measures resting heart rate and rhythm, and lasts about a minute.
Exercise EKG (also called a stress test). This measures heart rate and rhythm while exercising, like riding a stationary bicycle or walking on a treadmill.
Signal-average EKG. This measures heart rate much like a resting EKG. The only difference is the signal-average EKG monitors the heartbeat over a longer time period (around 15 to 20 minutes).
Holter monitor. This is an EKG done over a very long period of time, usually 24 hours or more. The electrodes are connected to the chest, and the wires are attached to a portable EKG recorder. The child is encouraged to continue normal daily activities, but must be careful to not get the electrodes wet (for example, no swimming, showering, or activities that cause a lot of sweating). There are two kinds of Holter monitoring: continuous recording, which means the EKG is on throughout the entire monitoring period; and event monitoring, which means data are recorded only when the child feels symptoms and then turns the Holter monitor on.

How Are Arrhythmias Treated?

Your child may have an arrhythmia but may feel no symptoms at all. Many arrhythmias don't require treatment; however, some can pose a health problem and need to be evaluated and treated by a doctor.

Depending on the type and severity of the arrhythmia, one of the following options might be recommended by your doctor:

Medications. Many types of prescription anti-arrhythmic medications are available to treat arrhythmia. Your child’s doctor will determine which is best by considering the type of arrhythmia, possible underlying medical causes, and any medications your child is taking. Sometimes, anti-arrhythmic medications can increase symptoms and cause unwanted side effects, so their use and effectiveness should be closely monitored by the doctor, you, and your child.
Pacemakers. A pacemaker is a small, battery-operated device implanted into the body (near the collarbone) through a surgical procedure. Connected to the heart by a wire, pacemakers can help treat bradycardia. Through a sensing device, a pacemaker can detect if a child’s heart rate is too slow and sends electrical signals to the heart to speed up the heartbeat.
Defibrillators. Like a pacemaker, a defibrillator can deliver electrical impulses to the heart. A small battery-operated implantable cardioverter defibrillator (ICD) can be implanted into the body (near the left collarbone) through a surgical procedure. Wires run from the defibrillator to the heart. It senses if the heart has developed a dangerously fast or irregular rhythm and delivers an electrical shock to restore a normal heartbeat.
Catheter ablation. "Ablation" literally means removal or elimination. In the case of catheter ablation, a catheter (a long, thin tube) is guided through a vein in the arm or leg and inserted into the heart to eliminate the heart muscle cells that are triggering the arrhythmia. Once the problem area of the heart is pinpointed, the catheter sends waves of high-frequency radio waves into the muscle cells and destroys them.
Surgery. Surgery is usually the treatment recommended only if all other options have failed. In this case, the child is put under anesthesia, the chest is opened, and the heart is exposed. Then, the tissue causing the arrhythmia is removed.

When to Call the Doctor

Although many arrhythmias are minor and don't represent a significant threat to your child's health, some can indicate a more serious health problem. If your child has been having symptoms like those listed above, call your doctor.

Neurofibromatosis

2009-02-24T01:00:00.000-08:00

Neurofibromatosis (NF) is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities.

NF is often diagnosed in childhood, occasionally in infancy (in children with severe cases), but usually around 3-16 years of age. Effects of the disease vary widely — some children live almost unaffected by the condition; rarely, others might be severely disabled.

There's no specific cure for NF, but tumors usually can be removed and related complications treated. Because learning disabilities occur in about half the children with NF, some might need extra help in the classroom.

About Neurofibromatosis

Neurofibromatosis is a neurocutaneous syndrome passed down through the parents' genes, and it affects the brain, spinal cord, nerves, skin, and other systems in the body.

Neurofibromatosis is defined by tumors, called neurofibromas, that grow along nerves in the body, or on or under the skin. As the tumors increase in size, they can press on vital areas of the body, causing problems in the way the body functions.

Neurofibromas often first appear in childhood, especially during puberty. The first noticeable sign is almost always the presence of brown café au lait spots. These distinctive spots don't hurt or itch and never progress to anything more serious than spots. They can be found anywhere on the body, though not usually on the face. Tiny ones — freckles — may be seen under the arms or in the groin area.

Many neurofibromas can be removed. Although usually benign (noncancerous), an estimated 3%-5% become cancerous.

Of the two types of neurofibromatosis — NF1 and NF2 — NF1 is more common, occurring in 1 of every 4,000 births and affecting an estimated 100,000 Americans. It is also known as von Recklinghausen disease.

NF2 is characterized by the presence of bilateral acoustic neurofibroma-like tumors and is rarer, seen in 1 in 50,000 births. People with NF2 usually develop benign tumors on the nerves in their ears, causing hearing loss, eventual deafness, and problems with balance.

The severity of both types of neurofibromatosis varies greatly. In families where more than one person has NF, it can present with different physical signs and complications for each person. At diagnosis, it isn't possible to know right away whether a case will be mild or lead to severe complications.

Causes of NF

Both types of neurofibromatosis are autosomal dominant genetic disorders, which means an affected person has 1 chance in 2 of passing it on with each pregnancy. Neurofibromatosis also can be the result of a spontaneous change (mutation) in the genetic material of the sperm or egg at conception in families with no previous history of NF. About half of cases are inherited, and the other half are due to spontaneous genetic mutation.

NF 1 and NF 2 are each related to changes in separate genes. The NF1 gene is located on chromosome 17, and NF2 has been traced to chromosome 22. These findings are important because they may eventually lead to the development of a blood test or other genetic test to find out if a relative has NF.

Signs and Symptoms

NF1 is sometimes diagnosed in younger children, especially those with more severe forms of the disorder. One key to early diagnosis of mild NF is the appearance of café-au-lait spots on the skin.

Many people who do not have NF have a few café-au-lait spots. But if a young child has five or more, at least ½ inch in size (roughly the size of a dime), a doctor will look for other clues that may indicate NF, including neurofibromas — tumors on, under, or hanging off the skin — and Lisch nodules, tiny, noncancerous tumors on the iris (the colored part of the eye). Lisch nodules are of no clinical significance except that they help confirm a diagnosis of NF.

Neurofibromas often become evident on various parts of the body, beginning at the arms, around 10 years of age. A child may also develop freckling in the folds of the skin of the armpit or groin or on other parts of the body where the skin creases.

Abnormalities of the skeleton, such as the thinning or overgrowth of the bones in the arms or lower leg, curvature of the spine (scoliosis), and other bone deformities also may be features of NF1.

NF2 is usually not diagnosed until a child is older. Hearing loss in the late teens and early twenties is often among the first symptoms of the disorder, and is caused by tumors growing on the auditory nerves (which carry electrical impulses from the inner ear to the brain, allowing us to hear) on one or both sides.

Other symptoms of NF2 include continuous ringing in the ears, headache, facial pain or weakness, and feeling unsteady or off balance.

Diagnosis and Treatment

Neurofibromatosis is usually diagnosed based on a combination of findings. A child must have at least two of the following signs to be diagnosed with NF1:

café-au-lait spots of a certain number, size, and location
the appearance of two or more neurofibromas (often resembling pea-sized bumps on the skin)
Lisch nodules on the irises
an optic glioma (tumor along the main nerve of the eye that is responsible for sight)
certain skeletal abnormalities
a family member with NF1
freckling under the arms or in the groin

Tests like magnetic resonance imaging (MRI) and X-rays may be used to screen for tumors or evidence of skeletal problems. A child's head circumference will be measured, as kids with symptoms of NF can have a circumference that's larger than normal for their age. Blood pressure will be monitored. Doctors also take a detailed personal history, looking for signs of learning difficulties.

To diagnose NF2, doctors will check for any evidence of hearing loss. They'll order audiometry (hearing tests) as well as imaging tests to look for tumors in the nerves of the ears, spinal cord, or brain. They'll also determine if there's a family history of NF2.

Genetic testing is now available for people with a family history of either NF1 or NF2, though such testing is still not 100% sensitive. Amniocentesis or chorionic villus sampling can sometimes determine if an unborn child has the condition.

Treatment for NF1 includes removal of the neurofibromas for cosmetic purposes, treating the complications (see below), and getting intervention for children with learning disabilities. Kids will be referred to appropriate medical specialists to monitor and treat complications, which may include:

seizures (up to 40% of children with NF1 have them)
high blood pressure
scoliosis
speech impairment
optic nerve tumors (which can cause vision problems leading to blindness)
early or delayed onset of puberty

Rarely, neurofibromas can become cancerous (3%-5% of cases). In these occurrences, surgery, chemotherapy, or radiation may be necessary.

With NF2, surgeons will likely need to remove the auditory nerve tumors, which may cause deafness afterward. When parts of the auditory nerve are removed, hearing aids won't work.

In 2000, the U.S. Food and Drug Administration (FDA) approved an auditory brainstem implant for people with NF2 who have lost their hearing. This device transmits sound signals directly to the brain, enabling the person to hear certain sounds and speech.

Currently, researchers are conducting trials with medications in the hopes they'll be able to offer more treatment options.

Caring for Your Child

The first noticeable sign of neurofibromatosis usually is the presence of multiple café-au-lait spots. If your child has several of these spots, ask your doctor to do a thorough examination; he or she may need to screen your child for other signs of NF.

If your child has already been diagnosed with NF and you notice that a growing tumor is beginning to cause a problem, tell your doctor immediately.

One of the most important things you can do is get early intervention if your child has learning disabilities. It also helps to seek out support groups that can provide your family with practical advice and encouragement.

Remember, most people (about 60%) diagnosed with NF1 have only relatively mild signs of the disorder, like café-au-lait spots and a few neurofibromas on the surface of the skin, which require little or no treatment.

Kids diagnosed with mild NF who remain fairly healthy into early adulthood are less likely to develop more serious complications later in life. Kids diagnosed with more serious forms often have correctable complications and with appropriate help and support can lead happy and productive lives.

Neurocutaneous Syndromes

2009-02-17T01:00:00.000-08:00

Neurocutaneous syndromes are disorders that lead to abnormal growth of tumors in various parts of the body. They're caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body (including the nervous system) and by certain differences in the skin.

While some can be diagnosed at birth, others don't produce symptoms until later in life. Although neurocutaneous syndromes cannot be cured, treatments can help manage symptoms and any health problems that occur.

Types of Neurocutaneous Syndromes

Common neurocutaneous syndromes that affect kids include:

neurofibromatosis, types 1 and 2 (NF1 and NF2)
Sturge-Weber syndrome
tuberous sclerosis (TS)
ataxia-telangiectasia (A-T)
von Hippel-Lindau disease (VHL)

Symptoms vary widely from condition to condition, and they affect different kids in different ways. Often, the full effects of these diseases — even if detected at birth — do not emerge until the child grows up. The educational, social, and physical problems that the conditions cause must be managed throughout a child's life.

Neurofibromatosis

Neurofibromatosis is one of the most common neurocutaneous syndromes. It can cause tumors to grow on nerve cells, producing skin changes, bone deformities, eye problems, and other complications, particularly in the brain.

Neurofibromatosis is usually inherited, but up to half of cases occur because of spontaneous changes (mutations) within a person's genes. Once a mutation has taken place, the changed (mutant) gene can then be passed on to succeeding generations. The child of a parent with neurofibromatosis has a 50% chance of inheriting the disorder.

The two different forms of this disorder are neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 accounts for approximately 90% of all cases.

Neurofibromatosis Type 1

NF1 (also known as von Recklinghausen disease) occurs in about 1 in 4,000 babies born in the United States. To diagnose NF1, doctors take a thorough medical and family history because children with NF1 often have a parent with the disease.

The classic sign of NF1 are skin pigment findings known as "café-au-lait" spots. These light brown or coffee-colored patches may be present at birth and can look like freckles at first. They often increase in size and number during the first few years of life. A child diagnosed with NF1 will usually have at least six café-au-lait spots that are larger than freckles. The spots are flat, don't itch or hurt, and do not turn into anything more serious.

Another common sign is the presence of Lisch nodules, tiny, benign (noncancerous) tumors found on the iris of the eye. In some cases, tumors can develop along the optic nerves and affect vision. During puberty, benign tumors called neurofibromas develop on or under the skin or along the nerves of the body. Bone deformities also may develop.

NF1 treatment focuses on managing the symptoms. A child with complications involving the eye, nervous system, spine, or bones will be referred to an appropriate specialist for treatment. In cases where these neurofibromas are causing chronic pain, growing into vital body organs, or causing infections, the growths can be removed through surgery.

Children with NF1 also have a high prevalence of seizures, learning disabilities, attention deficit disorder (ADHD), and speech problems. Therapy and specialists can help manage those symptoms.

Neurofibromatosis Type 2

Neurofibromatosis type 2 is less common, occurring in about 1 in 40,000 births. Kids who have it usually develop tumors on the auditory nerves (the nerves leading to the ear), but not until adolescence or as young adults.

NF2 symptoms, which appear in the teen years or early twenties, can include hearing loss, ringing of the ears, and problems with balance. Different treatment options can help manage these problems.

Tuberous Sclerosis

Tuberous sclerosis, or TS, causes benign growths called tubers to form on different body organs, including the brain, eyes, kidneys, heart, skin, and lungs. It occurs in approximately 1 in 6,000 births, and the child of a parent with TS has a 50% chance of having it.

TS is often first recognized when a child has seizures or shows developmental delays. The severity of TS symptoms vary greatly among kids, ranging from mild skin abnormalities to mental retardation or kidney failure.

Treatment usually includes medication to prevent seizures, treatments to address skin problems, surgery to remove tumors, and the management of high blood pressure caused by kidney disease.

Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare condition caused by a spontaneous genetic mutation that affects the skin and the brain. What prompts the mutation is unknown and so far no genetic factors have been found. It is not passed down by parents who carry the disease. Because it frequently goes undiagnosed, it's difficult to estimate how many people are affected.

Each case of Sturge-Weber is unique and symptoms vary widely. The most visible marker is a facial birthmark or "port-wine stain" that is present at birth and usually covers at least one upper eyelid and the forehead.

Sturge-Weber syndrome can lead to neurological problems, including unusual blood vessel growths on the brain called angiomas. These often cause seizures that begin before the first birthday and can worsen with age. A child also may experience convulsions on the side of the body that's opposite from the port-wine stain.

About 30% of patients also develop glaucoma (increased pressure inside the eye that impairs vision), typically in the eye that is affected by the port-wine stain. That eye also might be enlarged (a condition called buphthalmos). Some kids who have this condition also experience strokes.

Treatments, medications, and surgery can help a child cope with the health problems associated with the disease.

Children as young as 1 month old who have Sturge-Weber can undergo laser treatment to reduce or remove port-wine stains. Anticonvulsant medication may be used to control seizures, and surgery can control glaucoma and vision problems.

Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a progressive degenerative disease involving many major body systems. It is a recessive genetic disease, meaning that both parents carry the gene that could combine to cause A-T in their children but do not have the disease themselves. Two parents who carry the mutated gene have a 25% chance of having a child affected by A-T.

A-T is usually noticed in the second year of life as a child develops problems with balance and slurred speech caused by ataxia (lack of muscle control). The ataxia occurs because the cerebellum, the part of the brain that controls muscle movement, is degenerating. Eventually, the lack of muscle control becomes severe enough for the child to require a wheelchair.

Another symptom of A-T is the appearance of tiny, red, spiderlike veins in the corners of the eyes or on the ears and cheeks when exposed to sunlight. These veins, known as telangiectasias, are harmless.

About 70% of children with A-T also have immune system problems that make them more susceptible to chronic upper respiratory infections, lung infections, and pneumonia. They're also very susceptible to developing certain cancers, such as leukemia and lymphoma.

Currently, there is no treatment for A-T and no way to stop its progression. But treatment can help kids manage symptoms. Physical therapy and occupational therapy may help maintain flexibility, and speech therapy can help address slurring and other speech problems. Special medications may be given to help enhance weakened immune systems.

Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is a genetic disorder involving the abnormal growth of blood vessels. It usually affects certain areas, such as the brain and other parts of the central nervous system, the retina of the eye, the adrenal glands, the kidneys, or the pancreas. Its prevalence is unknown, but the child of a parent who carries the gene that causes VHL has a 50% chance of having the disorder.

Blood vessels usually grow like branches on a tree, but in kids with VHL, they form small tumors called angiomas. Doctors carefully monitor angiomas because, depending on where they are located, they can cause other medical problems. For example, angiomas on the retina of the eye may lead to vision loss.

Symptoms usually appear between 10 and 30 years of age. VHL is diagnosed through magnetic resonance imaging (MRI) or a computerized tomography (CT) scan. A thorough physical examination and blood tests are also performed.

Symptoms depend on the size and location of the angiomas, and can include headaches, balance problems, dizziness, weakness, vision problems, and high blood pressure. Fluid-filled cysts or tumors (benign or cancerous) may develop around the angiomas, worsening these symptoms. People with this disorder have a higher risk of developing cancer, especially kidney cancer.

VHL treatment will depend on the size and location of the angiomas. The goal is to treat the tumors while they're small and before they put pressure on any of the major organs, such as the brain or spine. Surgery may be required to remove the tumors before they create severe problems.

The prognosis for VHL patients depends on the location of the tumors and the complications they cause. Fortunately, early detection and treatment can improve a child's treatment outcome.

Caring for Your Child

The illnesses associated with neurocutaneous syndromes can place enormous stress and emotional burdens on you and your child, and it is easy to feel overwhelmed. Early intervention is important to helping your child achieve the best quality of life possible.

The focus of treatment is to prevent or minimize complications and maximize the child's strengths. Keep in mind the following tips:

Positive reinforcement can strengthen your child's self-esteem and foster a sense of independence. Let your child find out what he or she is capable of, especially regarding daily living skills.
Support groups can be extremely beneficial, so seek out local chapters that address your child's particular illness. They provide a supportive social environment, and are a great way to share knowledge and resources.
Psychotherapy or other supportive treatments can boost your child's self-esteem and coping skills, so ask the treatment team for referrals. Therapy also can help other family members deal with the stress involved in caring for a child with a chronic illness or disability.
Physical, occupational, or speech therapy can help your child improve some of the developmental delays caused by the specific illness.
Check with your local hospital or university for seminars or informational classes about neurocutaneous syndromes. Education can help you be a valuable resource in your child's long-term treatment.

Many medical professionals might care for your child during diagnosis and treatment. These professionals can include a family practitioner, pediatrician, neurologist, neurosurgeon, orthopedic surgeon, oncologist, geneticist, and ophthalmologist. A genetic counselor also can provide information about genetic testing and the risk of passing the disease on to another child.

Remember that although each of these conditions are challenging, supportive therapies and treatments can help both you and your child.