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遗传性心律失常综合征当前的知识空白。

Current gaps in knowledge in inherited arrhythmia syndromes.

作者信息

Peltenburg Puck J, Crotti Lia, Roston Thomas M, van der Werf Christian

机构信息

Heart Centre, Amsterdam University Medical Centres, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam, The Netherlands.

Department of Paediatric Cardiology, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands.

出版信息

Neth Heart J. 2023 Aug;31(7-8):272-281. doi: 10.1007/s12471-023-01797-w. Epub 2023 Jul 6.

DOI:10.1007/s12471-023-01797-w
PMID:37410339
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10400500/
Abstract

The 3 most common inherited arrhythmia syndromes-Brugada syndrome, congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia-were initially described in the previous century. Since then, research has evolved, which has enabled us to identify patients prior to the onset of potentially life-threatening symptoms. However, there are significant gaps in knowledge that complicate clinical management of these patients today. With this review paper, we aim to highlight the most important knowledge gaps in clinical research of these inherited arrhythmia syndromes.

摘要

三种最常见的遗传性心律失常综合征——布加综合征、先天性长QT综合征和儿茶酚胺能多形性室性心动过速——最初是在上个世纪被描述的。从那时起，研究不断发展，这使我们能够在潜在的危及生命的症状出现之前识别患者。然而，目前仍存在重大的知识空白，这使得这些患者的临床管理变得复杂。在这篇综述文章中，我们旨在强调这些遗传性心律失常综合征临床研究中最重要的知识空白。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b377b1f91ce6/12471_2023_1797_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b9630570e55b/12471_2023_1797_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b736ca51cd28/12471_2023_1797_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b377b1f91ce6/12471_2023_1797_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b9630570e55b/12471_2023_1797_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b736ca51cd28/12471_2023_1797_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6356/10400500/b377b1f91ce6/12471_2023_1797_Fig3_HTML.jpg

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本文引用的文献

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From gene-specific to function-specific risk stratification in long QT syndrome Type 2: implications for clinical management.从长QT综合征2型的基因特异性风险分层到功能特异性风险分层：对临床管理的启示
Europace. 2023 Apr 15;25(4):1320-1322. doi: 10.1093/europace/euad035.
2
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia.RYR2 介导的儿茶酚胺多形性室性心动过速运动应激试验中心律失常特征的可重复性。
Europace. 2023 Feb 16;25(2):619-626. doi: 10.1093/europace/euac177.
3
Accuracy of mobile 6-lead electrocardiogram device for assessment of QT interval: a prospective validation study.
Neth Heart J. 2023 Aug;31(7-8):261-262. doi: 10.1007/s12471-023-01801-3. Epub 2023 Jul 24.
用于评估QT间期的移动6导联心电图设备的准确性：一项前瞻性验证研究。
Neth Heart J. 2023 Sep;31(9):340-347. doi: 10.1007/s12471-022-01716-5. Epub 2022 Sep 5.
4
2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death.2022年欧洲心脏病学会室性心律失常患者管理和心脏性猝死预防指南
Eur Heart J. 2022 Oct 21;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262.
5
Efficacy and safety of catheter ablation for Brugada syndrome: an updated systematic review.导管消融治疗 Brugada 综合征的疗效和安全性：一项更新的系统评价。
Clin Res Cardiol. 2023 Dec;112(12):1715-1726. doi: 10.1007/s00392-022-02020-3. Epub 2022 Apr 22.
6
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.全基因组关联分析鉴定出布加综合征的新风险位点，并强调了钠离子通道调节疾病易感性的新机制。
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Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.功能验证的 SCN5A 变体可用于解释 Brugada 综合征的致病性并预测致死事件。
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