[Marfan's syndrome: diagnosis and treatment]

Abstract

The Marfan syndrome is an autosomal dominant inherited disorder of connective tissue with pleiotropic manifestation involving mainly the cardiovascular, ocular, skeletal and pulmonary systems. Aortic root dilatation and heart valve lesions are particularly common and presage a reduced life expectancy. Over the ensuring 20 years, however, treatment to prevent or correct the cardiovascular complications of the syndrome has changed dramatically--life expectancy for patients with the Marfan syndrome has increased > 25%. Reasons for this dramatic increase may include (1) an overall improvement in population life expectancy, (2) benefits arising from cardiovascular surgery, and (3) greater proportion of milder cases due to increased frequency of diagnosis. Cardiovascular surgery, both prophylactic and emergent, has become accepted treatment for aortic aneurysm, and aortic dissection. In addition, beta-adrenergic receptor antagonists have gained wide acceptance as potential agents for delaying aortic expansion and progression to rupture or dissection. In conclusion, medical therapy is also associated with an increase in probable survival.