Pathogenesis, clinical manifestations and diagnosis of Marfan's Syndrome

Marfan syndrome (MS) is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals. The majority of cases of MS are caused by a mutation in the fibrillin-1 gene (FBN1). Transforming growth factor beta (TGF beta) plays an important role in MS. MS is a clinical diagnosis based on family history and the observation of characteristic findings in multiple organ systems as the skin superelasticity, fingers, musculoskeletal, chest wall, nervous system, cardiovascular system, lungs. Diagnostic criteria of MS were agreed internationally in 1996. A diagnosis of MS is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individual.