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[无症状性离子通道病:风险分层与一级预防]

[Asymptomatic channelopathies : Risk stratification and primary prophylaxis].

作者信息

Aweimer Assem, Mügge Andreas, Akin Ibrahim, El-Battrawy Ibrahim

机构信息

Klinik für Kardiologie und Angiologie, Berufsgenossenschaftliches Universitätsklinikum Bergmannsheil Bochum, Ruhr Universität Bochum, Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Deutschland.

I. Medizinische Klinik, Universitätsklinikum Mannheim, Medizinische Fakultät Mannheim, Universität Heidelberg, Mannheim, Deutschland.

出版信息

Herzschrittmacherther Elektrophysiol. 2023 Jun;34(2):101-108. doi: 10.1007/s00399-023-00937-4. Epub 2023 Apr 27.

DOI:10.1007/s00399-023-00937-4
PMID:37103573
Abstract

In general, asymptomatic patients with channelopathies are at increased risk of sudden cardiac death (SCD), due to pathogenic variants in genes encoding ion channels that result in pathological ion currents. Channelopathies include long-QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short-QT syndrome (SQTS). In addition to the patient's clinical presentation, history and clinical tests, the main diagnostic tools are electrocardiography and genetic testing to identify known gene mutations. Early and correct diagnosis as well as further risk stratification of affected individuals and their relatives are paramount for prognosis. The recent availability of risk score calculators for LQTS and BrS allows SCD risk to be accurately estimated. The extent to which these improve patient selection for treatment with an implantable cardioverter-defibrillator (ICD) system is currently unknown. In most cases, initiation of basic therapy in asymptomatic patients in the form of avoidance of triggers, which are usually medication or stressful situations, is sufficient and contributes to risk reduction. In addition, there are other risk-reducing prophylactic measures, such as permanent medication with nonselective β‑ blockers (for LQTS and CPVT) or mexiletine for LQTS3. Patients and their family members should be referred to specialized outpatient clinics for individual risk stratification in the sense of primary prophylaxis.

摘要

一般来说,患有通道病的无症状患者发生心源性猝死(SCD)的风险增加,这是由于编码离子通道的基因中的致病变异导致病理性离子电流。通道病包括长QT综合征(LQTS)、 Brugada综合征(BrS)、儿茶酚胺能多形性室性心动过速(CPVT)和短QT综合征(SQTS)。除了患者的临床表现、病史和临床检查外,主要的诊断工具是心电图和基因检测,以识别已知的基因突变。对受影响个体及其亲属进行早期和正确的诊断以及进一步的风险分层对预后至关重要。最近有了LQTS和BrS的风险评分计算器,可以准确估计SCD风险。目前尚不清楚这些工具在多大程度上改善了植入式心脏复律除颤器(ICD)系统治疗的患者选择。在大多数情况下,对无症状患者采取避免诱因(通常是药物或应激情况)的形式启动基本治疗就足够了,这有助于降低风险。此外,还有其他降低风险的预防措施,如使用非选择性β受体阻滞剂进行长期药物治疗(用于LQTS和CPVT)或使用美西律治疗LQTS3。患者及其家属应转诊至专门的门诊诊所,进行一级预防意义上的个体风险分层。

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Arrhythmogenic hereditary syndromes: Brugada Syndrome, long QT syndrome, short QT syndrome and CPVT.致心律失常性遗传性综合征:布加综合征、长QT综合征、短QT综合征和儿茶酚胺敏感性多形性室性心动过速。
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[Why do we need genetics in cardiac rhythmology?].[为何心律学需要遗传学?]
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Sudden cardiac death in Long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT).长 QT 综合征(LQTS)、Brugada 综合征和儿茶酚胺多形性室性心动过速(CPVT)中的心源性猝死。
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Herz. 2009 Jun;34(4):281-8. doi: 10.1007/s00059-009-3238-1.

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J Am Heart Assoc. 2025 Mar 18;14(6):e038308. doi: 10.1161/JAHA.124.038308. Epub 2025 Mar 13.
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The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.人诱导多能干细胞在研究心脏通道病中的作用。
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Ion Channel Diseases as a Cause of Sudden Cardiac Death in Young People: Aspects of Their Diagnosis, Treatment, and Pathogenesis.

本文引用的文献

1
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.评估 CPVT 和短 QT 综合征基因在心律失常性猝死中的有效性。
Eur Heart J. 2022 Apr 14;43(15):1500-1510. doi: 10.1093/eurheartj/ehab687.
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A Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK).Brugada 综合征患者一级预防临床风险评分模型(BRUGADA-RISK)。
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3
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
离子通道疾病作为年轻人心脏性猝死的原因:其诊断、治疗及发病机制相关方面
Dtsch Arztebl Int. 2024 Oct 4;121(20):665-672. doi: 10.3238/arztebl.m2024.0130.
一项国际性、多中心、基于证据的对报道引起先天性长 QT 综合征的基因的重新评估。
Circulation. 2020 Feb 11;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132. Epub 2020 Jan 27.
4
Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome.短 QT 综合征患者的长期随访:临床特征和结局。
J Am Heart Assoc. 2018 Dec 4;7(23):e010073. doi: 10.1161/JAHA.118.010073.
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Determination and Interpretation of the QT Interval.QT 间期的测定和解读。
Circulation. 2018 Nov 20;138(21):2345-2358. doi: 10.1161/CIRCULATIONAHA.118.033943.
6
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.重新评估报道的致心律失常性猝死基因:Brugada 综合征基因有效性的循证评估。
Circulation. 2018 Sep 18;138(12):1195-1205. doi: 10.1161/CIRCULATIONAHA.118.035070.
7
[Syncopes and channelopathies].[晕厥与离子通道病]
Herzschrittmacherther Elektrophysiol. 2018 Jun;29(2):171-177. doi: 10.1007/s00399-018-0566-y. Epub 2018 May 15.
8
Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.长 QT 综合征患者遗传基础、QTc 持续时间与心律失常风险之间的相互作用。
J Am Coll Cardiol. 2018 Apr 17;71(15):1663-1671. doi: 10.1016/j.jacc.2018.01.078.
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Brugada Syndrome: Defining the Risk in Asymptomatic Patients.Brugada综合征:界定无症状患者的风险
Arrhythm Electrophysiol Rev. 2016;5(3):164-169. doi: 10.15420/aer.2016:22:3.
10
Prevalence and Clinical Impact of Early Repolarization Pattern and QRS-Fragmentation in High-Risk Patients With Brugada Syndrome.早期复极模式和QRS波碎裂在Brugada综合征高危患者中的患病率及临床影响
Circ J. 2016 Sep 23;80(10):2109-16. doi: 10.1253/circj.CJ-16-0370. Epub 2016 Aug 25.