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.

What are the symptoms of Marfan syndrome?

Children with Marfan syndrome often have specific physical traits that may become more noticeable as a child grows. These traits can include:

  • long arms, legs, fingers, and toes
  • long, narrow face
  • flexible joints
  • short torso
  • a spine that curves to one side (scoliosis)
  • a chest that sinks in (pectus excavatum) or sticks out (pectus carinatum)
  • eye problems, like nearsightedness or a dislocated lens
  • overly crowded teeth
  • flat feet
  • unexplained stretch marks on the skin

Not everyone who has these traits has Marfan syndrome. If you’re concerned that your child may have Marfan syndrome, it’s important to see a doctor who’s experienced in diagnosing genetic disorders.

What causes Marfan syndrome?

The syndrome is caused by a defect in a gene known as FBN1, which controls the structure of fibrillin-1, a protein that’s an important part of the connective tissue in the body.

About 75 percent of children with Marfan syndrome have inherited the condition from a parent. In the other 25 percent of children, the gene mutates spontaneously for no apparent reason.

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 root 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, and mental health providers — to provide complete care for our patients with this condition.

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.