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原发性心脏离子通道病与心脏性猝死 被引量:2

Primary cardiac ion channel diseases and sudden cardiac death
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摘要 在心脏离子通道病中有一部分原发性心电疾病,在无任何结构性心脏病变的情况下易导致心脏性猝死(sudden cardiac death,SCD),约占年轻SCD患者的30%,包括先天性长QT间期综合征、先天性短QT间期综合征、Brugada综合征、儿茶酚胺敏感性多形性室速。这些疾病往往外显率较低,且缺乏典型的临床表现,临床诊断面临较大的挑战。然而,SCD可能作为原发性心脏离子通道病的首发症状,因此早期诊断尤为重要。本文全面介绍了上述4种原发性心脏离子通道病的临床表现及诊断标准、遗传背景及病理生理学机制和治疗,以期为严重心律失常乃至SCD的防治提供线索。 In cardiac ion channel diseases,there are a part of primary electrical disorders which easily lead to sudden cardiac death(SCD)in the absence of structural heart diseases,accounting for approximately 30%of young SCD patients.These electrical disorders include congenital long QT syndrome,congenital short QT syndrome,Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.These diseases usually have low penetrance and lack typical clinical manifestation,greatly challenging clinical diagnosis.However,SCD is probably the first symptom of primary cardiac ion channel diseases,and therefore it is especially important to make early diagnosis.This paper comprehensively introduces the clinical manifestations and diagnostic criteria,genetic background,pathophysiologic mechanism,and therapy of the above four kinds of primary cardiac ion channel di-seases,in order to provide a clue for prevention and control of severe arrhythmias and even SCD.
作者 黄壹萍 郭继鸿 王新康 高洁 HUANG Yiping;GUO Jihong;WANG Xinkang;GAO Jie(Department of ECG Diagnosis,Shengli Clinical Medical College of Fujian Medical University,Fujian Provincial Hospital,Fuzhou Fujian 350001;Department of Cardiovascular Medicine,Peking University People's Hospital,Beijing 100044,China)
出处 《实用心电学杂志》 2021年第5期364-370,共7页 Journal of Practical Electrocardiology
基金 国家自然科学基金面上项目(61971140) 福建省卫生教育联合攻关项目(2019-WJ-18)。
关键词 心脏性猝死 心脏离子通道病 原发性心电疾病 先天性长QT间期综合征 先天性短QT间期综合征 BRUGADA综合征 儿茶酚胺敏感性多形性室速 精准医学 sudden cardiac death cardiac ion channel disease primary electrical disorder congenital long QT syndrome congenital short QT syndrome Brugada syndrome catecholaminergic polymorphic ventricular tachycardia precision medicine
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