Marfan syndrome: a case of painless aortic dissection

Abstract

Marfan syndrome is a systemic, genetically based disease with autosomal dominant inheritance that affects the connective tissue. In 25% of cases, it arises from sporadic mutations and there is no family history. These patients mainly suffer from the cardiovascular manifestations of the disease. Among the most significant are mitral valve insufficiency, dissection or rupture of the aorta. Valvular abnormalities can be detected at birth, while enlargement of the aortic root is more commonly found in early childhood or later. The most serious complication and the primary cause of death associated with this syndrome is an aortic aneurysm and dissection, which generally occur in the aortic root or the ascending aorta. Most presentations are asymptomatic until advanced stages, and diagnosis is not straightforward. Surgical interventions are required in 100% of affected individuals. Thanks to improved diagnosis and early surgical intervention, the life expectancy of these patients could significantly improve.