[Marfan syndrome and related disorders].

Marfan syndrome and related disorders. Marfan syndrome is an autosomal dominant disease, affecting about 1/5000 persons. It includes aortic wall fragility responsible for aortic root dilatation and risk of dissection, mitral valve prolapse, ophthalmological features (ectopia lentis, flat cornea, myopia), skeletal features (excessive height, arachnodactyly, thoracic deformity with pectus, scoliosis, and flat feet), cutaneous striae, particularly in the front of the shoulders, and dural ectasia. The gene affected is mainly FBN1 coding for fibrillin 1. Care includes beta-blockers, sport restriction, and prophylactic aortic surgery when the maximal aortic diameter (usually aortic root diameter) exceeds 50 mm. Many new related disorders have been discovered these last years.