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Marfan syndrome: from molecular pathogenesis to clinical treatment

2007; Elsevier BV; Volume: 17; Issue: 3 Linguagem: Inglês

10.1016/j.gde.2007.04.006

1879-0380

Francesco Ramirez, Harry C. Dietz,

Cardiac Valve Diseases and Treatments

Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major constituent of extracellular microfibrils. Mouse models of Marfan syndrome have revealed that fibrillin-1 mutations perturb local TGFbeta signaling, in addition to impairing tissue integrity. This discovery has led to the identification of a new syndrome with overlapping Marfan syndrome-like manifestations that is caused by mutations in TGFbeta receptor types I and II. It has also prompted the idea that TGFbeta antagonism will be a productive treatment strategy in Marfan syndrome and perhaps in other related disorders. More generally, these studies have established that Marfan syndrome is part of a group of developmental disorders with broad and complex effects on morphogenesis, homeostasis and organ function.