UPDATE ON THE DIAGNOSIS AND MANAGEMENT OF MARFAN-SYNDROME

Marfan syndrome is a common, heritable disorder of connective tissue t ransmitted as an autosomal dominant trait with variable penetrance. Th e molecular defect is related to abnormalities of fibrillin, an integr al connective tissue protein. Clinical manifestations include musculos keletal, ophthalmologic, and cardiovascular involvement. Cardiovascula r involvement generally determines survival and includes severe mitral valve prolapse, mitral insufficiency, and aortic dilation. Affected i ndividuals generally manifest aortic root involvement in their teens a nd twenties; the lesion exhibits an unpredictable growth rate and resu lts in aortic aneurysm formation. The mean age of death is 32 years. S udden death in Marfan syndrome is related in over 70% of cases to aort ic rupture or dissection. Therefore, healthcare professionals must fol low these individuals closely, with aggressive blood pressure and hear t rate control as well as serial echocardiography with attention to ao rtic root size. Prophylactic aortic root replacement should be perform ed 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 cardiov ascular surgeon who has experience in aortic root replacement.