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Marfan Syndrome

Connective Tissue Disorder

By

Updated July 27, 2009

The aorta

The aorta is affected in Marfan syndrome

Photo © A.D.A.M.
Marfan syndrome is an inherited disorder of connective tissue, although about one-quarter of all cases occur without any family history of the syndrome. Marfan syndrome is caused by a defect in the fibrillin 1 gene on chromosome 15. It affects both men and women of all ethnic backgrounds. About 1 in 5,000 people have Marfan syndrome.

Symptoms

Marfan syndrome affects many areas of the body. Symptoms may include:
  • tall and thin body type
  • long arms, legs, fingers, and toes
  • flexible joints
  • curvature of the spine (scoliosis)
  • chest sinks in (pectus excavatum) or sticks out (pectus carinatum)
  • weak and fragile aorta, the main artery that carries blood away from the heart - it may become enlarged (aortic dilation) or develop a bulge (aneurysm), or may tear and burst (aortic dissection)
  • severe nearsightedness, and sometimes dislocated lens of the eye
A person with Marfan syndrome has at least 3 symptoms in different parts of the body.

Diagnosis

If Marfan syndrome is suspected, a thorough physical examination should be done, as well as special testing. This would include:
  • A complete family medical history and family tree
  • Echocardiogram of the heart by a cardiologist
  • Examination of the skeleton and measurement of body proportions
  • Full eye examination by an eye doctor
It is possible that a person may have a few of the symptoms of Marfan syndrome, but the diagnosis is not certain. The person may have a different connective tissue disorder, such as Ehlers-Danlos syndrome or Loeys-Dietz syndrome.

Treatment

There is no cure for Marfan syndrome, but there are treatments that can help prevent or minimize its complications. The biggest threat to people with the syndrome is the sudden tearing of the aorta, a medical emergency which can be fatal. Therefore, close monitoring by a cardiologist and surgical repair of a weak aorta will save many lives. Blood pressure medications can also reduce stress on the aorta, as can avoiding strenuous exercise and contact sports.

In addition, regular physical examinations to monitor bones and joints and eye exams to watch for lens dislocation will help the person with Marfan syndrome. With good medical care most people can have a good quality of life and live a normal lifespan.

Sources:

"About Marfan Syndrome." National Marfan Foundation. 22 Jul 2009

"What Is Marfan Syndrome?" Heart & Vascular Diseases. Feb 2009. National Heart Lung and Blood Institute. 22 Jul 2009

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