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Marfan Syndrome

What is Marfan Syndrome?

Marfan Syndrome is a genetic disorder of the connective tissue, affecting the skeleton, lungs, eyes, heart and blood vessels. The condition is caused by a single abnormal gene, often from a parent who is also affected. One-quarter of cases may be the result of a spontaneous gene mutation. Marfan Syndrome affects approximately 200,000 people in the United States; both men and women of any race or ethnic group may be affected.

What medical problems are associated with Marfan Syndrome?

Marfan Syndrome primarily affects the cardiovascular and skeletal systems. Patients with Marfan Syndrome also have vision programs; many are near-sighted and about fifty percent suffer from dislocation of the ocular lens.

Marfan Syndrome affects the cardiovascular system by making the aorta wider and more fragile. This can lead to leakage of the aortic valve or tears (dissection) in the aortic wall. This may requires surgery to repair. Additionally, the heart’s mitral valve may leak and an irregular heart rhythm may develop.

Finally, Marfan Syndrome may lead to curvature of the spine, an abnormally shaped chest, loose joins and disproportionate growth. Because of this, patients with Marfan Syndrome are typically taller in stature.

How is Marfan Syndrome diagnosed?

People with Marfan syndrome exhibit different combinations of symptoms. Because symptoms of Marfan syndrome overlap with other related connective tissue disorders, it is vitally important that your physicians be knowledgeable about Marfan syndrome. Tests include:

  • Echocardiogram—a sound-wave picture of the heart and aorta—by a cardiologist.

  • Slit-lamp examination by an ophthalmologist to check for dislocation of the ocular lens.

  • Complete family history to determine other heart, skeletal or eye conditions among relatives.

  • Skeletal examination by an orthopedist.

  • Genetic test for a mutation in FBN1, the fibrillin-1 gene. Fibrillin is a component of microfibrils, a group of proteins that add strength and elasticity to connective tissue. A genetic mutation is found in 90 to 95 percent of people with Marfan syndrome.

How is Marfan Syndrome treated?

There is currently no cure for Marfan Syndrome; however careful management of the condition can improve a patient’s prognosis and lengthen the life span.

Every affected person should work closely with his/her physician(s) for their customized treatment plan. However, in general, treatment includes the following:

  • Annual echocardiogram to monitor the size and function of the heart and aorta.

  • Initial eye examination with a slit-lamp to detect lens dislocation, with periodic follow-up.

  • Careful monitoring of the skeletal system, especially during childhood and adolescence.

  • Beta-blocker medications to lower blood pressure and reduce stress on the aorta.

  • Antibiotics and other medications may be necessary prior to any dental or genito-urinary procedures to reduce the risk of infection in people who experience mitral valve prolapse or who have artificial heart valves.

  • Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, are often necessary to reduce the risk of injury to the aorta.


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