[Treatment and outcome of a young female patient with severe aortic stenosis and complex coronary disease associated with familial hypercholesterolemia: a case report]

Zhonghua Xin Xue Guan Bing Za Zhi. 2023 Mar 24;51(3):310-313. doi: 10.3760/cma.j.cn112148-20221130-00946.
[Article in Chinese]

Abstract

家族性高胆固醇血症（FH）是一种常见的遗传性血脂异常疾病，表现为血浆低密度脂蛋白胆固醇（LDL-C）显著升高，常合并早发性动脉粥样硬化性心血管疾病。该文报道1例青年心力衰竭患者被诊断合并复杂冠状动脉病变、重度主动脉瓣狭窄及主动脉瓣上狭窄，进一步基因筛查确诊为复合杂合子FH，在体外膜肺氧合辅助下成功接受冠状动脉介入治疗及经导管主动脉瓣球囊扩张成形术，手术效果满意，随访至今患者仍存活。FH强调早期筛查、早期诊断、早期治疗，需重视对早发性动脉粥样硬化性心血管疾病的筛查，尤其是冠状动脉病变及主动脉瓣狭窄。.

Publication types

  • Case Reports

MeSH terms

  • Aortic Valve Stenosis* / etiology
  • Coronary Artery Disease* / complications
  • Female
  • Humans
  • Hyperlipoproteinemia Type II* / complications
  • Treatment Outcome