Heart Defect in Child

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.

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Hypertension

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.

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Hereditary Hemochromatosis

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.

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Heart Murmurs

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.

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