Suppr超能文献

[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.

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。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验