劳力性晕厥:长QT综合征的诊断。以实践为导向的风险分层与管理案例报告[j]。

Q4 Medicine
Praxis Pub Date : 2026-02-01 DOI:10.23785/PRAXIS.2026.02.005
Matus Brecka, Miroslava Brecka, Filipe Patricio, Laurent M Haegeli, Jan Berg
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引用次数: 0

摘要

简介:我们提出的情况下,22岁的医学生谁经历了反复发作晕厥在体力消耗。初步调查,包括神经学评估和心脏检查,包括心电图和动态心电图监测,均正常。然而,在随后的排球比赛中,她出现了心脏骤停,需要复苏和自动体外除颤器(AED)除颤。分析AED记录显示心室颤动(VF)并提示进一步的诊断测试。长QT综合征(LQTS)的诊断是基于临床表现,心电图上QTc间隔延长和记录的心脏骤停伴VF。随后的基因检测发现了KCNQ1基因的致病变异,确认了1型LQTS的诊断。患者接受β受体阻滞剂治疗,并植入植入式心律转复除颤器(ICD)。本病例强调了运动诱发的晕厥作为一种高风险症状的诊断和预后意义,即使在最初的调查结果不显著的情况下,也需要仔细的心脏学评估。它强调了AED数据分析的高教学价值,并说明了当前指南在心脏通道病变管理中的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Exertional syncope: A diagnosis of long QT syndrome. A practice-oriented case report on risk stratification and management].

Introduction: We present the case of a 22-year-old medical student who experienced repeated episodes of syncope during physical exertion. Ini-tial investigations, including a neurological assessment and cardiac examinations involving electrocardiograms (ECGs) and Holter monitoring, were normal. During a subsequent volleyball match, however, she suffered cardiac arrest and required resuscitation and defibrillation with an automated external defibrillator (AED). Analysis of the AED recording revealed ventricular fibrillation (VF) and prompted further diagnostic testing. Long QT syndrome (LQTS) was diagnosed based on the clinical presentation, a prolonged QTc interval on the ECG and documented cardiac arrest with VF. Subsequent genetic testing identified a pathogenic variant in the KCNQ1 gene, confirming the diagnosis of type 1 LQTS. The patient was treated with beta blockers, and an implantable cardioverter-defibrillator (ICD) was implanted. This case highlights the diagnostic and prognostic significance of exercise-induced syncope as a high-risk symptom requiring careful cardiological evaluation, even when initial investigations are unremarkable. It emphasises the high didactic value of AED data analysis and illustrates the application of current guidelines in the management of cardiac channelopathies.

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来源期刊
Praxis
Praxis Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
146
审稿时长
12 weeks
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