What Is Marfan Syndrome?
Named after Antoine Marfan, the French doctor who discovered it in 1896, Marfan syndrome is a disorder that affects the body's connective tissue (say: kuh-nek-tiv tih-shoo). Connective tissue is found everywhere in the body. Think of it as a type of "glue" that helps support all of your organs, blood vessels, bones, joints, and muscles.
In people with Marfan syndrome, this "glue" is weaker than normal. This causes changes in many systems of the body, but especially the heart, eyes, and bones.
People with Marfan syndrome often share similar traits. They tend to be tall and thin with very long arms, legs, fingers, and toes. They often develop curves in their spines (scoliosis) or their chest bones. They also may be nearsighted and have other problems with their eyes. But the most serious thing about Marfan syndrome is what can happen with the heart.
Over time, weak connective tissue can cause the aorta, the large artery that carries blood away from the heart to the rest of the body, to stretch and dilate (say: dye-late), or widen. If not treated, the aorta can suddenly tear, causing blood to leak out. This condition, called a dissection (say: dye-sek-shun), is very serious and can cause death.
The good news is that, even though Marfan syndrome has no cure, doctors can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early and get good medical care can live long, happy lives.
How Do Kids Get It?
Marfan syndrome affects 1 in every 5,000 people all over the world. That makes it pretty rare. It's a genetic (say: juh-neh-tik) disease, which means it is caused by a problem with a kid's genes that happens before birth.
Genes are what you inherit from your parents that make you . . . well, you. They're the blueprints that determine whether you have blue eyes or brown or whether you look like your mom or your dad. But sometimes genes can pass on some not-so-great things, too, like certain illnesses and diseases.
In most cases, the gene for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. In these cases, a kid may have grandparents, aunts, uncles, or cousins who also have the disease. Every kid born to a parent who has Marfan syndrome has a 50% chance of having it, too.
Sometimes, though, neither parent has the disease. In these cases, a normal gene accidentally changed when a baby was first developing. This baby will be the first person in his or her family to have the disease. As a grown-up, he or she will then have a 50% chance of passing the changed gene on to each of his or her children.
Marfan syndrome can affect people very differently. Some may have very mild symptoms, while others, even within the same family, have severe ones. Doctors don't know why this happens.
The important thing to remember is that kids who have Marfan syndrome didn't do anything wrong to cause their disease. And it's not contagious either, meaning that kids who have it didn't catch it like a cold or a flu and you can't catch it from them.
How Do Doctors Diagnose It?
Not everyone who's tall or thin or nearsighted has the disease. People who have Marfan syndrome have very specific symptoms that usually occur together, and it's this pattern that doctors look for when diagnosing it.
To be diagnosed with Marfan syndrome, people must see several types of doctors, including a geneticist (a doctor who specializes in disorders of the genes), a cardiologist (heart doctor), an ophthalmologist (eye doctor), and an orthopedist (bone doctor).
First, a geneticist will ask whether anyone else in the family has similar symptoms. Then he or she will probably do some painless exams — like taking measurements of the body, including an arm span. You may have heard of a bird's wingspan, which is how far the wings extend when they're spread out. Arm span is kind of like that.
To check your arm span, hold your arms straight out like you're making the letter T with your whole body. Your arm span is how long you measure from your left fingertips to your right fingertips. For some people with Marfan syndrome, their arm span is greater than their height. In other words, they have very long arms.
The cardiologist will also do some tests that don't hurt. He or she may listen to the heart with a stethoscope; take an X-ray of the chest; and perform an electrocardiogram, or EKG (a test that measures electrical activity in the heart). An echocardiogram (a test that uses sound waves to make a picture of the heart) might be also done so the doctor can check the size of the aorta and look for any problems with the heart valves (the little "doors" inside the heart that help direct the flow of blood). In someone with Marfan syndrome, those valves can become floppy, causing blood to leak backward through the heart.
An eye doctor will check the eyes for dislocated lenses (say: dis-low-kay-ted lenz-es). That's when the lenses (the focusing part of the eye) — which are usually fixed in place behind the pupil — shift up, down, or to the side. More than half of all people with Marfan syndrome have it. Kids with the disorder are also more likely to have amblyopia (lazy eye), and as they get older, some other eye problems, too.
An orthopedist will check for scoliosis, problems with the chest bone (in many people, it either curves in or sticks out), joint problems, and other things like flat feet.
What Do Doctors Do?
Kids with Marfan syndrome must be followed closely by a team of doctors. Because kids' bodies grow and change so quickly, most kids will need echocardiograms about once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problems.
Doctors might also prescribe special medicines called beta blockers, which help the heart not to pump so hard and cause less wear and tear on the blood vessels. Kids who are nearsighted or kids with amblyopia (lazy eye) will probably need to wear glasses. And kids who develop scoliosis may have to wear a special back brace.
Sometimes, kids may need to have surgery on their heart, eyes, back, or chest bones, depending on how severe problems become.
What a Kid With Marfan Can Do
Kids with Marfan syndrome can do lots of things to help keep themselves healthy. The most important thing is to avoid putting extra stress on the heart. That usually means avoiding any sport where there's a lot of running, muscle straining, or the chance of getting hit in the chest — things like basketball, football, baseball, gymnastics, weight lifting, and track.
That may be a bummer, but it doesn't mean kids with Marfan syndrome have to be couch potatoes. They can still play with their friends and even exercise — they just have to be a little more careful. Kids should always check with their doctors about what's safe, but usually activities like walking, swimming, dancing — anything that can be done at a slower pace — get the green light. And of course all kids, with or without Marfan syndrome, should never smoke.