由兰尼碱受体2（RyR2）突变引起的儿茶酚胺能多形性室性心动过速：休闲骑行作为致死性心律失常的诱因 - Suppr

Catecholaminergic polymorphic ventricular tachycardia due to RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias.

作者信息

Gallegos-Cortez Antonio, Alonso-Ortiz Néstor, Antunez-Argüellez Erika, Villarreal-Molina Teresa, Totomoch-Serra Armando, Iturralde-Torres Pedro, Márquez Manlio F

机构信息

Hospital Regional de Alta Especialidad del Bajío, San Carlos la Roncha, León Guanajuato, Mexico.

Hospital General Naval de Alta Especialidad, Mexico.

出版信息

Arch Med Sci. 2019 Nov 12;16(2):466-470. doi: 10.5114/aoms.2019.89691. eCollection 2020.

DOI:10.5114/aoms.2019.89691

PMID:32190159

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7069429/

Abstract

摘要

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Catecholaminergic polymorphic ventricular tachycardia due to RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias.由兰尼碱受体2（RyR2）突变引起的儿茶酚胺能多形性室性心动过速：休闲骑行作为致死性心律失常的诱因

Arch Med Sci. 2019 Nov 12;16(2):466-470. doi: 10.5114/aoms.2019.89691. eCollection 2020.

Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report.一名患有睡眠和运动期间有症状的儿茶酚胺能多形性室性心动过速的青少年患者中一种新型兰尼碱受体2（RyR2）突变的描述：病例报告

J Med Case Rep. 2018 Oct 9;12(1):298. doi: 10.1186/s13256-018-1825-6.

Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations.钙通道拮抗作用可减少携带兰尼碱受体2（RyR2）突变的儿茶酚胺能多形性室性心动过速患者运动诱发的室性心律失常。

J Cardiovasc Electrophysiol. 2005 Feb;16(2):162-6. doi: 10.1046/j.1540-8167.2005.40516.x.

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.兰尼碱受体2（RyR2）中的一种新型变异导致家族性儿茶酚胺能多形性室性心动过速。

Forensic Sci Int. 2017 Jan;270:173-177. doi: 10.1016/j.forsciint.2016.12.001. Epub 2016 Dec 9.

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function.降低兰尼碱受体功能的儿茶酚胺能多形性室性心动过速突变中的心律失常发生机制

Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1669-77. doi: 10.1073/pnas.1419795112. Epub 2015 Mar 16.

Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.儿茶酚胺敏感性多形性室性心动过速致心律失常性右室心肌病相关的 RyR2 通道基因突变的致病机制

J Mol Cell Cardiol. 2018 Apr;117:26-35. doi: 10.1016/j.yjmcc.2018.02.014. Epub 2018 Mar 2.

Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.心动过缓是由RYR2突变引起的儿茶酚胺能多形性室性心动过速的一种特定表型。

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A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia.一种新的兰尼碱受体2功能丧失突变（I4855M）与左心室心肌致密化不全及非典型儿茶酚胺能多形性室性心动过速相关。

J Electrocardiol. 2017 Mar-Apr;50(2):227-233. doi: 10.1016/j.jelectrocard.2016.09.006. Epub 2016 Sep 8.

Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia.氟卡尼治疗可抑制 CASQ2 相关儿茶酚胺敏感性多形性室性心动过速患者运动诱发的室性心律失常。

Heart Rhythm. 2013 Nov;10(11):1671-5. doi: 10.1016/j.hrthm.2013.08.011. Epub 2013 Aug 13.

Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia.心肌兰尼碱受体/钙释放通道与儿茶酚胺能多形性室性心动过速的关系。

J Cell Physiol. 2002 Jan;190(1):1-6. doi: 10.1002/jcp.10031.

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Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.中国儿茶酚胺能多形性室性心动过速患者的临床特征、遗传学发现及心律失常结局：一项系统评价

Life (Basel). 2022 Jul 22;12(8):1104. doi: 10.3390/life12081104.

The link between abnormalities of calcium handling proteins and catecholaminergic polymorphic ventricular tachycardia.钙处理蛋白异常与儿茶酚胺能多形性室性心动过速之间的联系。

Tzu Chi Med J. 2021 May 14;33(4):323-331. doi: 10.4103/tcmj.tcmj_288_20. eCollection 2021 Oct-Dec.

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Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome.普罗帕酮对安德森-陶威尔综合征的严重室性心律失常无效。

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An unusual etiology of torsade de pointes-induced syncope.尖端扭转型室速所致晕厥的一种罕见病因。

Arch Med Sci. 2017 Apr 1;13(3):686-688. doi: 10.5114/aoms.2017.67287. Epub 2017 Apr 20.

[Recurrent syncope related to catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2-R2401H mutation].[因新发RyR2-R2401H突变导致的儿茶酚胺能多形性室性心动过速相关的复发性晕厥]

Zhonghua Xin Xue Guan Bing Za Zhi. 2017 Jan 25;45(1):39-43. doi: 10.3760/cma.j.issn.0253-3758.2017.01.008.

Catecholaminergic polymorphic ventricular tachycardia: An exciting new era.儿茶酚胺能多形性室性心动过速：一个令人兴奋的新时代。

Ann Pediatr Cardiol. 2016 May-Aug;9(2):137-46. doi: 10.4103/0974-2069.180645.

Importance of cardiological evaluation for first seizures.首次癫痫发作时心脏评估的重要性。

World J Clin Cases. 2015 Apr 16;3(4):381-4. doi: 10.12998/wjcc.v3.i4.381.

Determining the pathogenicity of genetic variants associated with cardiac channelopathies.确定与心脏离子通道病相关的基因变异的致病性。

Sci Rep. 2015 Jan 22;5:7953. doi: 10.1038/srep07953.

[Sudden cardiac death in individuals with normal hearts: an update].[心脏正常个体的心脏性猝死：最新进展]

Arch Cardiol Mex. 2014 Oct-Dec;84(4):293-304. doi: 10.1016/j.acmx.2014.04.002. Epub 2014 Aug 12.

[Ryanodine receptor, calcium leak and arrhythmias].

Arch Cardiol Mex. 2014 Jul-Sep;84(3):191-201. doi: 10.1016/j.acmx.2013.12.008. Epub 2014 Aug 5.

HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.遗传性原发性心律失常综合征患者诊断与管理的HRS/EHRA/APHRS专家共识声明：2013年5月由HRS、EHRA和APHRS认可，2013年6月由ACCF、AHA、PACES和AEPC认可。

Heart Rhythm. 2013 Dec;10(12):1932-63. doi: 10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30.

Arrhythmogenic channelopathy syndromes presenting as refractory epilepsy.致心律失常性通道病综合征表现为耐药性癫痫。

Pediatr Neurol. 2013 Aug;49(2):134-7. doi: 10.1016/j.pediatrneurol.2013.03.017.

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Catecholaminergic polymorphic ventricular tachycardia due to RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias.

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