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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 unable to tolerate normal stresses A few of the problems that Marfan syndrome patients inherit are reduced vision skeletal abnormalities and cardiovascular changes About 65 of Marfans patients develop ecto a dislocation of the lens of the eye This is caused by a weakness in tiligaments that normally hold the lens in place Patients with Marfans usually have long limbs and archnodactyly long slender spider like fingers They also have pectus excavatum in which the breastbone is caved inward 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 This may lead to leakage of the mitral valve or an irregular heart rhythm In addition the aorta is generally wider and may be more fragile The widening is progressive and can cause leakage in the aortic valve or tears in the aorta wall Surgical repairs are often necessary Doctors diagnose Marfan syndrome by a detailed medical and family history They also base their diagnoses on a complete physical examination of the bones and joints an eye exam and an echocardiogram There is no prevention for this disease During
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