心源性猝死的遗传变异研究进展

Advances in research on genetic variation of sudden cardiac death

心源性猝死(SCD)可发生于儿童、青少年和成年人。成人SCD常与冠心病相关,而遗传性心脏病则能引起儿童、青少年SCD事件高发。基因突变与遗传性心脏病关系密切且其有助于预测SCD发生风险,遗传性心脏病可能还与单核苷酸多态性有关。了解遗传性心脏病的危险因素并对SCD高危患者进行基因检测,将有助于疾病诊断、更准确的危险分层以及治疗。本文就SCD的遗传学基础作一综述。

Sudden cardiac death（SCD）may occur in children,adolescents and adults.Adults suffer from SCD often associate with coronary heart disease,however,inherited heart diseases can cause high incidence of SCD in children and adolescents.Inherited heart diseases are closely related with mutations as well as single nucleotide polymorphism,which may help predict the risk of SCD.Understanding the risk factors of inherited heart diseases and performing agenetic testing in high-risk SCD patients will help the diagnosis of a disease,bring more accurate risk stratification and treatments.This article is to review the genetic basis of SCD.