Imaging of Marfan syndrome: multisystemic manifestations.
Marfan syndrome is an inherited multisystemic connective-tissue disease that is caused by a mutation of the fibrillin-1 gene. The syndrome is characterized by a wide range of clinical manifestations. Common cardiovascular manifestations, most of which are substantial contributors to mortality, include annuloaortic ectasia with or without aortic valve insufficiency, aortic dissection, aortic aneurysm, pulmonary artery dilatation, and mitral valve prolapse. Scoliosis, pectus excavatum and carinatum, arachnodactyly, and acetabular protrusion are common musculoskeletal manifestations. Dural ectasia is a characteristic central nervous system manifestation. In some patients with Marfan syndrome, there is also pulmonary and ocular involvement. Early identification and treatment of these conditions contribute to an improved quality of life and a life expectancy close to the average for the general population in the United States. Radiologists play a key role in the diagnosis of Marfan syndrome. Knowledge about the various manifestations of Marfan syndrome and awareness of their radiologic appearances permit a comprehensive diagnostic approach that allows better patient care.
Ha
Hong Il
HI
Department of Radiology, University of Ulsan College of Medicine, Asan Medical Center, 388-1 Pungnap-2 dong, Songpa-gu, Seoul 138-736, Korea.
Seo
Joon Beom
JB
Lee
Sang Hoon
SH
Kang
Joon-Won
JW
Goo
Hyun Woo
HW
Lim
Tae-Hwan
TH
Shin
Myung Jin
MJ
D000293:Adolescent; D000328:Adult; D003952:Diagnostic Imaging / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D009102:Multiple Organ Failure / Q000175:diagnosis*; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'