M arfan Syndrome

Abstract Marfan syndrome is an autosomal dominant connective tissue disorder that affects 1–2 per 10,000 individuals. The diagnosis of Marfan syndrome is strongly based on clinical criteria, such as aortic dilatation or dissection, ectopia lentis, and dural ectasia. The identification of mutations in the fibrillin‐1 (FBN1) gene may be included in the diagnostic evaluation.FBN1mutations have also been detected in individuals with other fibrillinopathies. We discuss diagnosis, pathogenesis, and treatments of this group of disorders.