Sports and marfan syndrome - Awareness and early diagnosis can prevent sudden death

Marfan syndrome is an autosomal dominant disorder of the connective tissues . Its major manifestations are in the cardiovascular, musculoskeletal, and ocular systems, Recognizing the phenotypic presentation of tall stature, lo ng limbs and fingers, chest deformity, myopia, midsystolic click, and systo lic or diastolic murmur can lead to early diagnosis. Morbidity and mortalit y are primarily caused by cardiovascular involvement. The goal of medical t herapy is to retard the aortic root dilation that leads to sudden death fro m dissection or rupture. Surgical interventions for mitral valve regurgitat ion and resection of aortic aneurysms are highly effective. In addition, in dividuals with Marfan syndrome should be restricted from participation in c ertain sports.