Marfan syndrome: screening for sudden death in athletes

Marfan syndrome is a common, preventable cause of sudden cardiac death in the athlete. It is an autosomal-dominant disorder of connective tissue with variable penetration that affects multiple organ systems. Aortic root aneurysm rupture or dissection is the most common cause of sudden death. A directed family and personal history, in addition to a search for characteristic physical stigmata, can optimize the screening of athletes during the preparticipation evaluation. Athletes who have pertinent findings on the preparticipation evaluation should undergo further diagnostic evaluation. Echocardiography is essential to rule out cardiovascular involvement in those suspected of having Marfan syndrome, and should be mandated when positive pertinent family or personal history is elicited or when cardiac abnormalities are detected. Fortunately, due to characteristic historic and clinical findings, Marfan syndrome can be detected early, allowing appropriate treatment and ultimately prevention of sudden death in affected athletes.