Electrophysiology Service and Cardiovascular Genetics Centre, Montréal Heart Institute and Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada.
Electrophysiology Service and Cardiovascular Genetics Centre, Montréal Heart Institute and Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada.
Can J Cardiol. 2022 Apr;38(4):479-490. doi: 10.1016/j.cjca.2022.01.025. Epub 2022 Jan 30.
Genetic heart diseases are common causes of sudden cardiac death (SCD) in the young and are typically divided into inherited cardiomyopathies and primary electrical heart diseases. Cardiomyopathies associated with risk of SCD include hypertrophic cardiomyopathy (HCM) and arrhythmogenic cardiomyopathy (ACM). The latter includes arrhythmogenic right ventricular cardiomyopathy (ARVC) as well as ACM primarily affecting the left ventricle, such as lamin cardiomyopathy. Primary electrical diseases more commonly seen in clinical practice include Brugada syndrome (BrS) and long QT syndrome (LQTS). Risk stratification of SCD is a central component of the management of patients with these genetic heart diseases. Numerous risk factors have been identified with variable degrees of scientific evidence. More recently, risk prediction models have been developed to estimate the absolute risk of sustained arrhythmias and SCD, to support clinicians and patients in decision making regarding prophylactic implantable cardioverter-defibrillators (ICDs). This paper provides a practical review of the current literature on risk stratification in ARVC and other ACMs, HCM, BrS, and LQTS, and summarises current recommendations for ICD use.
遗传性心脏病是年轻人心源性猝死(SCD)的常见原因,通常分为遗传性心肌病和原发性心电疾病。与 SCD 风险相关的心肌病包括肥厚型心肌病(HCM)和致心律失常性心肌病(ACM)。后者包括致心律失常性右心室心肌病(ARVC)以及主要影响左心室的 ACM,如 lamin 心肌病。在临床实践中更常见的原发性电疾病包括 Brugada 综合征(BrS)和长 QT 综合征(LQTS)。SCD 的风险分层是管理这些遗传性心脏病患者的核心组成部分。已经确定了许多具有不同科学证据程度的风险因素。最近,风险预测模型已经被开发出来,以估计持续性心律失常和 SCD 的绝对风险,为临床医生和患者在关于预防性植入式心脏复律除颤器(ICD)的决策提供支持。本文对 ARVC 和其他 ACM、HCM、BrS 和 LQTS 的风险分层的当前文献进行了实用的回顾,并总结了目前 ICD 使用的建议。