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
orgBibliographywww. To prevent the progression of Marfan's related eye problems a regular eye examination is necessary. Some of the other problems that are associated with heart are the two leaflets of the mitral valve may billow backwards when the heart contracts. Despite the high risk of cardiovascular problems, the average age of those with Marfan's syndrome is nearly 70 years old. A few of the problems that Marfan syndrome patients inherit are reduced vision, skeletal abnormalities, and cardiovascular changes. For additional information on Marfan's syndrome you can contact National Marfan's Foundation 382 Main Street Port Washington, NY 11050 www. Marfan's syndrome is a life long illness that is present at birth. orgMicrosoft Encarta encyclopedia 99. If a serious problem is found the patient may need surgical replacement of the mitral valve or part of the aorta. Currently there is no medical treatment to prevent or reverse the inherited abnormalities that affect people with Marfan's syndrome. This is caused by a weakness in tiligaments that normally hold the lens in place.
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