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Marfan syndrome

Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.

MFS is an autosomal dominant disorder. About 75% of the time, the condition is inherited from a parent, while 25% of the time it is a new mutation. It involves a mutation to the gene that makes fibrillin, which results in abnormal connective tissue. Diagnosis is often based on the Ghent criteria.

There is no known cure for Marfan syndrome. Many people have a normal life expectancy with proper treatment. Management often includes the use of beta blockers such as propranolol or atenolol or, if that is not tolerated, calcium channel blockers or ACE inhibitors. Surgery may be required to repair the aorta or replace a heart valve. It is recommended that strenuous exercise be avoided.

About 1 in 5,000 to 10,000 individuals have Marfan syndrome. It occurs equally in males and females. Rates are similar between races and in different regions of the world. It is named after Antoine Marfan, a French pediatrician who first described the condition in 1896.



Source: Marfan syndrome
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