Genetic testing in Marfan syndrome Review article
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Abstract
Marfan syndrome is one of the most common genetic disorders of connective tissue and is inherited in an autosomal dominant manner. Marfan syndrome is mainly caused by mutations in the FBN1 gene encoding fibrillin-1, which leads to excess of transforming growth factor-β. Affected individuals have an increased risk of aortic root dilatation as well as aortic dissection, which is the main cause of sudden death. Prevention of these cardiovascular complications requires early and accurate diagnosis, which is difficult because clinical characteristics of Marfan syndrome is similar to a variety of other hereditary disorders from which it should be distinguished. In the revised Ghent criteria, Marfan syndrome is diagnosed on the basis of a set of clinical symptoms and genetic testing.
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