Interventional treatment methods in patients with Marfan Syndrome

Abstract

Marfan syndrome is an autosomal dominant heritable connective tissue disorder which involves primarily the skeletal, ocular and cardiovascular system. The incidence of MS is on average 1: 10000 with 25-30% of cases caused by sporadic mutations. The leading cause of premature death in these patients is progressive dilatation and subsequent dissection of the ascending thoracic aorta resulting in cardiac tamponade, and left ventricular failure due to aortic regurgitation. Life expectancy is primarily determined by the severity of cardiovascular involvement, and has improved substantially over the last 20 years due to the advances in surgical and medical management. The optimum management of Marfan patients includes a lifelong surveillance with particular emphasis placed on aortic behaviour. Preventive replacement of various portions of the aorta has been a major contribution for improved life expectancy in these patients. The different surgical and interventional treatment options currently available will be further outlined in this review.