Diagnosis
of Marfan Syndrome Marfan Syndrome is a genetic disorder caused by a defect in a gene called FBN1. It is a disorder of the connective tissue and can affect different parts of the body, such as the heart, eyes, joints and skeleton. Symptoms vary from person to person and can range from mild to severe. The diagnosis of Marfan Syndrome is based on the physical symptoms, family history and genetic testing. Early diagnosis and treatment of Marfan Syndrome are critical to reducing the risk of complications such as heart valve damage, aortic enlargement and retinal detachment. Treatment typically includes lifestyle modifications, medication and/or surgery. With proper treatment, quality of life for people with Marfan Syndrome can be improved and lifespan increased.
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