2020 年第 3 期 第 15 卷

遗传性主动脉疾病的研究现况

Research progress of hereditary aortic diseases

作者：武玉多1谷孝艳2何怡华2张宏家3

英文作者：

单位：1首都医科大学附属北京安贞医院心脏外科100029;2首都医科大学附属北京安贞医院超声诊断科100029；3首都医科大学附属北京朝阳医院心脏外科100020

英文单位：

关键词：主动脉疾病；主动脉瘤；主动脉夹层

英文关键词：

• 摘要：

• 【摘要】遗传性主动脉疾病通常以常染色体显性遗传方式遗传，发病形式既有散发病例，也有家族聚集病例，以出现主动脉扩张、主动脉瘤或主动脉夹层为特征。我国目前尚无完整的流行病学资料，大多数患者长期保持无症状，通常是主动脉瘤破裂或主动脉夹层出现时才被发现，此时患者很危险，预后不佳。因此早期识别疾病、早干预、早治疗，防止相关并发症的产生是很有必要的。

  
  

• 【Abstract】Hereditary aortic diseases are usually in an autosomal dominant manner, representing in sporadic cases as well as family aggregation, which are mostly characterized by aortic dilatation, aortic aneurysm or aortic dissection. There is a lack of complete epidemiological data in China. Most patients with hereditary aortic diseases are asymptomatic at early stage and abruptly suffer from aortic aneurysm rupture or aortic dissection, resulting in high life threats and poor prognosis. Therefore, early identification, intervention and treatment of disease and prevention of complications are necessary.