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The Indiana University Marfan Syndrome Program

Marfan syndrome occurs in about 1 in 5000 people in the US. Features may include:

  • Cardiovascular - mitral valve prolapse, aortic dilation with risk for rupture
  • Ocular - lens dislocations, nearsightedness, glaucoma, cataracts
  • Orthopedic - tall height, scoliosis, indented or protruding sternum, flat feet

The medical complications of Marfan syndrome differ from person to person and progress with age. Because life-threatening complications can arise, early diagnosis with ongoing medical care and specific lifestyle choices are vital to the long-term health and survival of individuals with Marfan syndrome.

Marfan syndrome is caused by changes in the gene, FBN-1. Genetic testing is available which detects approximately 90% of the gene alterations that lead to Marfan syndrome. Genetic testing may be used to confirm an uncertain diagnosis or aid in prenatal diagnosis.

Marfan syndrome is inherited from a parent in about 75 percent of cases, and occurs without a family history in the remaining 25 percent. Each child of a person with Marfan syndrome has a 50 percent chance to inherit the condition.

Additional information and detailed brochures on Marfan syndrome are available from the National Marfan Foundation at http://www.marfan.org/.

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