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.
Strider
D
D
Thoracic and Cardiovascular Services, University of Virginia Health Sciences Center, Charlottesville.
Moore
T
T
Guarini
J
J
Fallin
B
B
Ivey
J
J
Kron
I
I
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000517:prevention & control*; D008875:Middle Aged; D010348:Patient Care Team; D010375:Pedigree; D011859:Radiography; D014768:Virginia