UPDATE ON THE DIAGNOSIS AND MANAGEMENT OF MARFAN-SYNDROME

Marfan syndrome is a common, heritable disorder of connective tissue transmitted as an autosomal dominant trait with variable penetrance. The molecular defect is related to abnormalities of fibrillin, an integral connective tissue protein. Clinical manifestations include musculoskeletal, ophthalmologic, and cardiovascular involvement. Cardiovascular involvement generally determines survival and includes severe mitral valve prolapse, mitral insufficiency, and aortic dilation. Affected individuals generally manifest aortic root involvement in their teens and twenties; the lesion exhibits an unpredictable growth rate and results in aortic aneurysm formation. The mean age of death is 32 years. Sudden death in Marfan syndrome is related in over 70% of cases to aortic rupture or dissection. Therefore, healthcare professionals must follow these individuals closely, with aggressive blood pressure and heart rate control as well as serial echocardiography with attention to aortic root size. Prophylactic aortic root replacement should be performed when the aortic root is found to be greater than 55 mm in diameter. The patient should be referred to a specialized center with a cardiovascular surgeon who has experience in aortic root replacement.