Type A Aortic Dissection in Marfan Syndrome

In the article by Rylski et al1 in this issue of Circulation , the authors investigate the long-term outcomes of repair for type A aortic dissection in patients with Marfan syndrome.Article see p 1381Marfan syndrome is one of the genetic syndromes associated with thoracic aortic aneurysms and aortic dissection. The syndrome is the result of fibrillin-1 gene mutation ( FBN-1 ), which is an autosomal-dominant mutation with variable expression. Fibrillin-1 is a large glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils are present in elastic connective tissue such as the medial layer of the ascending aorta and in nonelastic connective tissue throughout the entire body.The criteria for Marfan syndrome include the presence of clinical findings in the cardiovascular, ocular, and skeletal systems and a positive family history, even though ≈25% of patients have a negative family history and FBN-1 mutations= status.2Patients with Marfan syndrome are predisposed to have thoracic aortic aneurysms involving the aortic root, ascending aorta, arch, and descending thoracic aorta. The majority of the patients with Marfan syndrome will present with dilation of the aortic root and ascending aorta, and the degree of severity of the disease increases with the extension of the dilation beyond the ascending aorta.Current guidelines3 recommend surgical repair for an external diameter of 5.0 cm, unless rapid growth, defined as >0.5 cm/y has occurred or in the presence of significant aortic regurgitation …