Isotalo P A, Guindi M M, Bedard P, Brais M P, Veinot J P
Ottawa Hospital, Ottawa, Canada.
Can J Cardiol. 1999 Oct;15(10):1139-42.
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder, a group that includes Ehlers-Danlos syndrome, Marfan's syndrome and pseudoxanthoma elasticum. OI is a heterogeneous disease of collagen I biosynthesis characterized by variable clinical phenotypes, including skeletal and cardiovascular manifestations. A 65-year-old man with OI who had extensive prior successful cardiac valve surgeries is described. He survived for 18 years after his initial valve surgery, but died of multiorgan failure and sepsis after repair of a spontaneous type A aortic dissection. This is the fourth reported case of aortic dissection secondary to OI and illustrates the extensive cardiovascular pathology associated with OI. Aggressive management of arterial dissection risk factors, such as systemic arterial hypertension, is advocated for patients with OI.
成骨不全症（OI）是一种遗传性结缔组织疾病，该类别还包括埃勒斯-当洛综合征、马凡综合征和弹性假黄瘤。OI是一种I型胶原蛋白生物合成的异质性疾病，其临床表型各异，包括骨骼和心血管表现。本文描述了一名65岁患有OI的男性，他此前曾多次成功接受心脏瓣膜手术。他在首次瓣膜手术后存活了18年，但在自发性A型主动脉夹层修复后死于多器官功能衰竭和败血症。这是第四例报道的继发于OI的主动脉夹层病例，说明了与OI相关的广泛心血管病理情况。对于OI患者，提倡积极管理动脉夹层风险因素，如系统性动脉高血压。
