What is the Marfan syndrome?

The Marfan syndrome is an inheritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group. It is estimated that at least 200,000 people (1 in every 5,000) in the United States have the Marfan syndrome or a related connective tissue disorder.

What medical problems are associated with the Marfan syndrome?

The Cardiovascular System: The most serious problems associated with the Marfan syndrome involve the cardiovascular system. The two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of the mitral valve or irregular heart rhythm.

In addition, the aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with the Marfan syndrome. This widening is progressive and can cause leakage of the aortic valve or tears (dissection) in the aorta wall. When the aorta becomes greatly widened, or tears, surgical repair is necessary.

Community marketplace The Skeleton: Skeletal manifestations common in people with the Marfan syndrome include curvature of the spine (scoliosis), abnormally shaped chest (pectus deformity), loose jointedness and disproportionate growth usually, but not always, resulting in tall stature.

The Eyes: People with the Marfan syndrome are often near-sighted (myopic). In addition, about 50 percent have dislocation of the ocular lens.

How is Marfan syndrome diagnosed?

The Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all of the possible signs and complications of the syndrome.

The discovery of the gene for the Marfan syndrome did not simplify diagnosis, except in a few circumstances. For the next few years at least, the diagnosis will continue to depend on a complete physical examination that focuses on the systems affected by the disorder. This includes examinations by a cardiologist, an ophthalmologist, an orthopedist, and a complete family history.

How is the Marfan syndrome treated?

People affected by the Marfan syndrome should be treated by a physician familiar with the condition and how it affects all body systems. There is no cure for the disorder yet, but careful medical management can greatly improve the prognosis and lengthen the life span. (See related article on Aortic Dissection)

For more information on the Marfan Syndrome, visit the National Marfan Foundation website (www.marfan.org).

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