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心脏性猝死的遗传学:遗传危险因素与病因概述

Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies.

作者信息

Li Tan Sarah Ming, Lim Shir Lynn, Ong Marcus Eh, Leong Kevin Mw

机构信息

Department of Cardiology, National University Heart Centre Singapore Singapore.

Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore Singapore.

出版信息

Arrhythm Electrophysiol Rev. 2025 Aug 13;14:e18. doi: 10.15420/aer.2025.11. eCollection 2025.

Abstract

Sudden cardiac death (SCD) is one of the leading causes of death worldwide. Coronary artery disease (CAD) is the predominant cause of SCD in older individuals, while inherited cardiomyopathies and channelopathies are more common in younger individuals under the age of 35 years. Genetic disorders associated with SCD have traditionally been perceived as monogenic disorders. However, increasing evidence suggests that many of these disorders have complex genetic architecture with contributions from multiple genetic variants, known as polygenic inheritance, along with environmental factors. Improved understanding of genetic contributions and variants in SCD may help elucidate the cause of SCD, enable risk stratification, and identify novel disease mechanisms to guide preventative and therapeutic strategies in SCD. This review provides an overview of the genetic risk factors and clinical implications for the most common cardiac disorders related to SCD in both old and young individuals: specifically CAD, as well as the inherited cardiomyopathies and channelopathies, respectively.

摘要

心脏性猝死(SCD)是全球主要死因之一。冠状动脉疾病(CAD)是老年个体SCD的主要原因,而遗传性心肌病和离子通道病在35岁以下的年轻个体中更为常见。传统上,与SCD相关的遗传疾病被视为单基因疾病。然而,越来越多的证据表明,其中许多疾病具有复杂的遗传结构,由多个遗传变异(即多基因遗传)以及环境因素共同作用。对SCD中遗传贡献和变异的更好理解可能有助于阐明SCD的病因、实现风险分层,并识别新的疾病机制,以指导SCD的预防和治疗策略。本综述概述了老年和年轻个体中与SCD相关的最常见心脏疾病的遗传风险因素及其临床意义:具体分别为CAD,以及遗传性心肌病和离子通道病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be28/12409730/90c6686b7ec3/aer-14-e18-g001.jpg

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