Marfan Syndrome

What is Marfan syndrome?

Marfan syndrome is a genetic disorder that causes the connective tissues that shape and support many parts of the body to be weaker than they should be. It can affect many parts of the body — including the heart and blood vessels, lungs, bones, joints, eyes and skin. Marfan syndrome often weakens the aorta, the body’s largest blood vessel, putting the child at risk for heart problems.

About one out of every 5,000 Americans has Marfan syndrome. It affects males and females of all races and ethnicities.

Children who have Marfan syndrome are usually tall and thin, with long arms, long double-jointed fingers, a short torso and very long legs. They often have an abnormally shaped chest, which increases the risk of developing lung problems.

How we care for Marfan syndrome

The Boston Children’s Hospital Cardiovascular Genetics Program cares for patients and families affected by Marfan syndrome and other genetic disorders. We also conduct research to develop better treatments for these conditions.

Patients with Marfan syndrome can develop aneurysms of the aorta, most commonly of the aortic route but also the aortic arch and descending aorta. Without treatment, these aneurysms can be life threatening.

Some patients with Marfan syndrome develop leakage of the mitral valve which our surgeons specialize in repairing.

Because Marfan syndrome is a multi-system disorder, our program works closely with other specialists — including general surgeons, ophthalmologists, orthopedic surgeons, behavioral pediatricians, educational specialists, mental health providers and others.

Our areas of innovation for Marfan syndrome

Our clinicians and scientists are at the leading edge of research and treatment for the medical prevention and management of aneurysms associated with Marfan syndrome. Our surgeons specialize in aortic valve-sparing procedures (the valve is left intact) for aneurysms associated with Marfan syndrome with excellent results.