Ha Hong Il, Seo Joon Beom, Lee Sang Hoon, Kang Joon-Won, Goo Hyun Woo, Lim Tae-Hwan, Shin Myung Jin
Department of Radiology, University of Ulsan College of Medicine, Asan Medical Center, 388-1 Pungnap-2 dong, Songpa-gu, Seoul 138-736, Korea.
Radiographics. 2007 Jul-Aug;27(4):989-1004. doi: 10.1148/rg.274065171.
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.
马凡综合征是一种遗传性多系统结缔组织疾病，由原纤蛋白-1基因的突变引起。该综合征具有广泛的临床表现。常见的心血管表现，其中大多数是导致死亡的重要因素，包括伴有或不伴有主动脉瓣关闭不全的主动脉根部扩张、主动脉夹层、主动脉瘤、肺动脉扩张和二尖瓣脱垂。脊柱侧凸、漏斗胸和鸡胸、蜘蛛指（趾）和髋臼突出是常见的肌肉骨骼表现。硬脊膜扩张是中枢神经系统的特征性表现。在一些马凡综合征患者中，还存在肺部和眼部受累。对这些病症的早期识别和治疗有助于提高生活质量，并使预期寿命接近美国普通人群的平均水平。放射科医生在马凡综合征的诊断中起着关键作用。了解马凡综合征的各种表现及其影像学表现，有助于采取全面的诊断方法，从而为患者提供更好的治疗。
