Diagnosis and management of Marfan syndrome

Marfan syndrome is a disorder of the connective tissue that is inherited in an autosomal-dominant fashion and is caused by mutations in the gene coding for fibrillin-1, FBN1. Although complications of the syndrome may involve the eye, the lung and the skeleton, the high mortality of untreated cases results almost exclusively from cardiovascular complications, including aortic dissection and rupture. Recently, a series of experiments has begun to elucidate the complex molecular etiology of Marfan syndrome, and a number of new heritable syndromes with an associated risk for aortic complications, such as Loeys-Dietz syndrome types I and II, have been described. The multiorgan involvement of many of these syndromes requires multidisciplinary expert centers that can increase the average life expectancy of affected patients from only 32 years to over 60 years. The present article both reviews classical standards of managing cardiovascular manifestations and outlines significant advances in recent research with focus on their impact on future diagnostic and therapeutic options.