MARFAN SYNDROME

Marfan syndrome is an autosomal dominant connective tissue disorder that affects 1–2 per 10,000 individuals. The diagnosis of Marfan syndrome is based on clinical criteria, such as musculoskeletal features, aortic dilatation or dissection, ectopia lentis, systemic skeletal features, and dural ectasia. The identification of mutations in the fibrillin-1 (FBN1) gene may be included in the diagnostic evaluation. FBN1 mutations have also been detected in individuals with other fibrillinopathies. Fibrillin is a multifunctional protein with a structural function as the major constituent of extracellular matrix microfibrils and a regulatory role in the ligand-based modulation of TGFβ signaling pathways. Clinically overlapping conditions, including the Loeys–Dietz syndrome, are caused by mutations in TGFβ receptor or TGFβ genes.