遗传性心律失常的体表心电图线索  

Body surface ECG clues for inherited arrhythmia

作　　者：史炳硕 李广平[1] SHI Bingshuo;LI Guangping(Department of Cardiology,the Second Hospital of Tianjin Medical University,Tianjin 300211,China)

机构地区：[1]天津医科大学第二医院心脏科,天津300211

出　　处：《实用心电学杂志》2022年第6期434-440,共7页Journal of Practical Electrocardiology

基　　金：国家自然科学基金资助项目(82270336);天津市卫生健康科技项目(ZC20125);天津医科大学第二医院临床医学研究资助项目(2019LC01)。

摘　　要：遗传性心律失常(inherited arrhythmia,IA)是一类以各种心律失常发作为主要特征的遗传性疾病的统称,主要包括遗传性离子通道病和遗传性结构性心脏病。IA猝死风险很高,目前基因检测假阳性率较高或仅提示为“意义不明的突变”,早期识别和诊断IA并予以适当干预对改善预后极为重要。通过体表心电图检查,可直接观察IA患者心脏电活动的变化,并识别特殊的心电图表现模式,为疾病的早期诊断提供线索。本文结合近年来国内外文献,系统总结了Brugada综合征、长QT综合征、短QT综合征等遗传性离子通道病的体表心电图特点,以及致心律失常性右室心肌病、肥厚型心肌病、扩张型心肌病、心肌淀粉样变等遗传性结构性心脏病的体表心电图特征,为IA的早期诊断提供参考。Inherited arrhythmia(IA)is a general term for a class of inherited diseases characterized by the onset of various arrhythmias,mainly including inherited ion channelopathy and inherited structural heart disease.Its risk of sudden death is high.At present,genetic testing for IA has relatively high false positive rate,or could only indicate“mutations with unclear significance”.Early identification and diagnosis of IA,and appropriate intervention are extremely important to improve prognosis.By body surface ECG examinations,we can directly observe the changes of electrical activities in the heart of IA patients,and identify special ECG manifestation patterns,so as to provide clues for its early diagnosis.Combined with domestic and foreign literatures published in recent years,this paper systematically summarizes the body surface ECG characteristics of inherited ion channelopathies such as Brugada syndrome,long QT syndrome and short QT syndrome,as well as the body surface ECG features of inherited structural heart diseases including arrhythmogenic right ventricular cardiomyopathy,hypertrophic cardiomyopathy,dilated cardiomyopathy and cardiac amyloidosis.It aims to provide references for early diagnosis of IA.

关 键 词：遗传性心律失常 遗传性离子通道病 遗传性结构性心脏病 体表心电图 

分 类 号：R541.75[医药卫生—心血管疾病]