摘要
不明原因猝死的原因复杂,目前发生率仍较高,找到病因是预防和治疗的关键一步。随着分子生物学技术的发展,国内外多项研究证实,致病基因突变导致的心脏性猝死与不明原因猝死有高度相关性。云南不明原因猝死病例呈明显的聚集性特征,提示其存在分子遗传可能;发病地区人群心电图异常指标检出率升高且90%的猝死病例有心脏病理改变,进一步表明云南不明原因猝死可能与致猝死性心脏基因突变有关。了解心脏性猝死的遗传倾向、基因变异、危险因素、致病机制,有助于辨别这类猝死的高危因素,从而有针对性地开展预防和治疗。本文对遗传性心律失常、遗传性心肌病以及云南不明原因猝死的研究动态进行综述,并对最新研究成果和致病因素进行总结,为进一步开展病因研究提供依据。
The etiology of sudden unexplained death(SUD)is complicated,and its incidence remains significant at present.The key to its prevention and treatment lies in identifying the underlying pathogenic factors.With the progress of molecular biology techniques,numerous studies at home and abroad have substantiated a strong association between sudden cardiac death(SCD)caused by pathogenic gene mutations and SUD.The conspicuous clustering characteristics observed in cases of Yunnan sudden unexplained death(YNSUD)indicate the potential involvement of molecular genetics.In the population of the affected area,the detection rates of abnormal electrocardiogram(ECG)indicators increased while cardiac pathological changes were found in 90%of sudden death cases,which further implies a possible correlation between YNSUD and pathogenic gene mutations related to SCD.Understanding the genetic predisposition,genetic mutation,risk factors,and pathogenic mechanisms of SCD contributes to identifying the high-risk factors associated with this kind of sudden death,so as to carry out targeted prevention and treatment.This paper reviews the current research trends in hereditary arrhythmias and hereditary cardiomyopathy related to SUD,and summarizes the latest research results and pathogenic factors.It is aimed to provide a foundation for further investigations on the etiology.
作者
赵慧左
王跃兵
ZHAO Huizuo;WANG Yuebing(School of Public Health,Kunming Medical University,Kunming Yunnan 650500;Health Emergency Office,Yunnan Provincial Institute of Endemic Disease Prevention and Control,Yunnan Provincial Key Laboratory of Natural Epidemic Disease Prevention and Control Technology,Dali Yunnan 671000,China)
出处
《实用心电学杂志》
2023年第4期289-294,共6页
Journal of Practical Electrocardiology
基金
国家自然科学基金资助项目(81960573)。
关键词
猝死
遗传性心律失常
遗传性心肌病
心脏性猝死
sudden death
hereditary arrhythmia
hereditary cardiomyopathy
sudden cardiac death
