de Paiva Magalhães E, Fernandes S R, Zanardi V A, Furtado Medeiros C A, Midori R Y, Sachetto Z, Samara A M
Department of Rheumatology, Medical Sciences School of State University of Campinas, SP, Brazil.
Angiology. 2001 Mar;52(3):223-8. doi: 10.1177/000331970105200311.
Beside atherosclerosis, aortic aneurysms can be part of the clinical spectrum of many systemic diseases, including infectious, inflammatory, genetic and, less often, congenital disorders. A 48-year-old white man presented with multiple large aneurysms of the aorta and its main branches. Medical history was unremarkable except for the presence of a softened abdominal mass since he was 28 years old. On the physical examination, an arterial murmur was heard over the left carotid artery and a palpable mass was noted in the whole right side of the abdomen. No skin or joint abnormalities were noted. Aortography, computed tomography, and magnetic resonance angiography showed multiple large aneurysms of the descending thoracic and abdominal aorta. Aneurysms of the innominate, left subclavian, and carotid arteries were also seen. This case resembles those previously reported, in which multiple aortic aneurysms were associated with abnormalities of the type III procollagen gene (COL3A1). Although the classic stigmas of the Ehlers-Danlos syndrome type IV were lacking, this genetic disease may be the cause of the multiple aneurysms in this patient.
除动脉粥样硬化外，主动脉瘤还可能是许多全身性疾病临床谱的一部分，包括感染性、炎症性、遗传性疾病，较少见的还有先天性疾病。一名48岁白人男性，出现主动脉及其主要分支的多发大动脉瘤。除自28岁起存在腹部肿块变软外，病史无明显异常。体格检查时，左颈动脉处可闻及动脉杂音，右侧腹部可触及肿块。未发现皮肤或关节异常。主动脉造影、计算机断层扫描和磁共振血管造影显示胸降主动脉和腹主动脉多发大动脉瘤。还可见无名动脉、左锁骨下动脉和颈动脉的动脉瘤。该病例与先前报道的病例相似，在那些病例中，多发主动脉瘤与III型前胶原基因（COL3A1）异常有关。尽管缺乏经典的IV型埃勒斯-当洛综合征体征，但这种遗传性疾病可能是该患者多发动脉瘤的病因。
