MARFAN SYNDROME

A detailed Summary of MARFAN SYNDROME


Marfan syndrome is a genetic disorder in which effects the heart and blood vessels; spine, chest, and joints; and the eyes. The heart abnormalities associated with the disorder are the most life threatening. The major heart abnormality is the weakening of the root of the aorta.

The type of inheritance for Marfan syndrome is autosomal dominant. In many families with inherited Marfan syndrome the mutation effect on chromosome 15 is the cause. In 1991 researchers identified the gene that causes this disorder. The gene is responsible for the production of filbrillin, a protein found in connective tissue that holds cells together. Sometimes the connective tissue either does not have enough or contains a ineffective form of the protein. As a result, the connective tissues are weaker and u


For additional information on Marfan's syndrome you can contact National Marfan's Foundation

Marfan's syndrome is a life long illness that is present at birth. Despite the high risk of cardiovascular problems, the average age of those with Marfan's syndrome is nearly 70 years old. Historically people with the disease died by the age of 50 from complications of the heart or aorta. Today nearly 40,000 people in the United States have Marfan's syndrome.



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