Marfan's syndrome: a family affair

Marfan's syndrome (MFS), a heritable connective tissue disorder, may result in cardiac valvular insufficiency, aortic aneurysm or dissection, dislocated lens, and musculoskeletal abnormalities. During a 20-month period (1994-96), an interdisciplinary health care team at a central Virginia medical center evaluated the histories of 112 persons from 15 different families for the presence of MFS-related traits. Seventy-five had at least one MFS-related trait, and 27 subjects underwent echocardiography to evaluate for aortic root dilatation and valvular lesions. Forty-three patients (57.3%) in the above cohort demonstrated significant cardiovascular lesions, with 20 undergoing cardiac surgery. Thirty-one patients (41.3%) were initially seen with significant ocular lesions, and 38 (50.7%) displayed orthopedic deformities. The health care team developed strategies for long-term management of persons with MFS, including antihypertensive therapy, periodic testing, risk-factor modification, genetic counseling, and surgery for appropriate patients. Proactive, consistent management of MFS families will improve long-term health outcomes for this patient population.