Harris Stephanie L, Lubitz Steven A
Cardiology Division, Cardiovascular Genetics Program, Massachusetts General Hospital, Boston, Massachusetts.
Cardiology Division, Cardiac Arrhythmia Service, Massachusetts General Hospital, Boston, Massachusetts.
J Cardiovasc Electrophysiol. 2020 Feb;31(2):570-578. doi: 10.1111/jce.14333. Epub 2020 Jan 15.
Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) can be attributed to cardiac, respiratory, metabolic, and toxicologic etiologies. Most cases of SCD are caused by coronary artery disease and approximately 40% of cardiac arrests are unexplained. Inherited arrythmias and cardiomyopathies are important contributors to SCA and SCD. Identifying an inherited condition after such an event not only has important ramifications for the individual, but also for relatives who may be at risk for the familial condition. This review will provide an overview of inherited cardiovascular disorders than can predispose to SCA/SCD, review the diagnostic evaluation for an individual and/or family after an SCA/SCD, and discuss the role of genetic testing.
心脏骤停(SCA)和心源性猝死(SCD)可归因于心脏、呼吸、代谢和毒理学病因。大多数SCD病例由冠状动脉疾病引起,约40%的心脏骤停原因不明。遗传性心律失常和心肌病是SCA和SCD的重要促成因素。在此类事件后确定遗传性疾病不仅对个体有重要影响,对可能有家族性疾病风险的亲属也有重要影响。本综述将概述可能易患SCA/SCD的遗传性心血管疾病,回顾SCA/SCD后个体和/或家庭的诊断评估,并讨论基因检测的作用。