临床误诊误治2025，Vol.38Issue(19)：12-17,6.DOI:10.3969/j.issn.1002-3429.2025.19.003
先天性长QT综合征误诊误治分析
Analysis of misdiagnosis and mistreatment in congenital long QT syndrome
摘要
Abstract
Objective To explore the clinical characteristics,causes of misdiagnosis,and preventive strategies for congenital long QT syndrome(cLQTS).Methods A retrospective analysis was conducted on the clinical data,genetic reports and treatment processes of 2 patients with misdiagnosed cLQTS from June to November 2023.Results Both children complained of repeated loss of consciousness and were misdiagnosed with non-cardiogenic syncope and epilepsy respectively.Under sinus rhythm,surface electrocardiogram(ECG)examination indicated prolonged QT interval after correction(QTc).During the attack,the ECG suggested torsional pointed-point ventricular tachycardia.Eventually,gene sequencing confirmed that all were variations of the KCNH2 gene.The clinical manifestations,ECG characteristics and genetic results of the 2 children patients were consistent with the diagnosis of cLQTS,and the misdiagnosis lasted 5 years and 2 years respectively.Two children were diagnosed and treated with anti-arrhythmic drugs.Their QTc was significantly shortened compared with that before intervention.They were followed up in the Outpatient Department for more than one year and there were no recurrent episodes of loss of consciousness.Conclusion cLQTS is usually characterized by loss of consciousness as the main manifestation,with a high risk of sudden death.However,its attacks are recurrent and self-limiting,and most patients first present to the Department of Neurology,making it prone to misdiagnosis as epilepsy or non-cardiogenic syncope,resulting in a relatively high misdiagnosis rate.Mastering the clinical characteristics of cLQTS and conducting surface ECG in a timely manner,as well as completing genetic testing as early as possible,is the key to reducing and avoiding misdiagnosis and mistreatment.关键词
先天性长QT综合征/误诊/癫痫/矫正后QT间期/意识丧失/心电图/基因检测Key words
congenital long QT syndrome/misdiagnosis/epilepsy/QT interval after correction/unconsciousness/electrocardiogram/gene test引用本文复制引用
李桂霞,许欣,王献民,季雪红,朱书瑶,何爽,何川,吕铁伟..先天性长QT综合征误诊误治分析[J].临床误诊误治,2025,38(19):12-17,6.基金项目
成都市科技局技术创新研发项目(2024-YF05-01314-SN) （2024-YF05-01314-SN）
