一名 CASQ2 基因杂合突变患者在接受程序性心室刺激时诱发心室颤动。

IF 2.3 3区医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

Journal of Cardiovascular Electrophysiology Pub Date : 2024-08-20 DOI:10.1111/jce.16406

Antonio Frontera MD, PhD, Andrea Mazzanti MD, PhD, Bernard Belhassen MD, Silvia Priori MD, PhD

{"title":"一名 CASQ2 基因杂合突变患者在接受程序性心室刺激时诱发心室颤动。","authors":"Antonio Frontera MD, PhD, Andrea Mazzanti MD, PhD, Bernard Belhassen MD, Silvia Priori MD, PhD","doi":"10.1111/jce.16406","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Introduction</h3>\n \n <p>We report the case of a 37-year-old male athlete, who developed during exercise atrial and ventricular arrhythmias. No structural heart disease.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Invasive programmed ventricular stimulation induced ventricular fibrillation. A heterozygous mutation in the <i>CASQ2</i> gene (c.775G>T, p.E259X) was found.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>The findings in our patient may suggest some increased ventricular excitability using programmed ventricular stimulation in <i>CASQ2</i> polymorphic ventricular tachycardia patients.</p>\n </section>\n </div>","PeriodicalId":15178,"journal":{"name":"Journal of Cardiovascular Electrophysiology","volume":null,"pages":null},"PeriodicalIF":2.3000,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jce.16406","citationCount":"0","resultStr":"{\"title\":\"Induction of ventricular fibrillation during programmed ventricular stimulation in a patient with CASQ2 heterozygous mutation\",\"authors\":\"Antonio Frontera MD, PhD, Andrea Mazzanti MD, PhD, Bernard Belhassen MD, Silvia Priori MD, PhD\",\"doi\":\"10.1111/jce.16406\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Introduction</h3>\\n \\n <p>We report the case of a 37-year-old male athlete, who developed during exercise atrial and ventricular arrhythmias. No structural heart disease.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>Invasive programmed ventricular stimulation induced ventricular fibrillation. A heterozygous mutation in the <i>CASQ2</i> gene (c.775G>T, p.E259X) was found.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusions</h3>\\n \\n <p>The findings in our patient may suggest some increased ventricular excitability using programmed ventricular stimulation in <i>CASQ2</i> polymorphic ventricular tachycardia patients.</p>\\n </section>\\n </div>\",\"PeriodicalId\":15178,\"journal\":{\"name\":\"Journal of Cardiovascular Electrophysiology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2024-08-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jce.16406\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Cardiovascular Electrophysiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/jce.16406\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Cardiovascular Electrophysiology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/jce.16406","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}

引用次数: 0

摘要

导言：我们报告了一例 37 岁的男性运动员，他在运动过程中出现房性和室性心律失常。无结构性心脏病：侵入性程序性心室刺激诱发心室颤动。发现 CASQ2 基因存在杂合突变（c.775G>T，p.E259X）：结论：本例患者的研究结果可能表明，对 CASQ2 多态性室速患者进行程序性心室刺激会增加其心室兴奋性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Induction of ventricular fibrillation during programmed ventricular stimulation in a patient with CASQ2 heterozygous mutation

查看原文本刊更多论文

Induction of ventricular fibrillation during programmed ventricular stimulation in a patient with CASQ2 heterozygous mutation

Introduction

We report the case of a 37-year-old male athlete, who developed during exercise atrial and ventricular arrhythmias. No structural heart disease.

Results

Invasive programmed ventricular stimulation induced ventricular fibrillation. A heterozygous mutation in the CASQ2 gene (c.775G>T, p.E259X) was found.

Conclusions

The findings in our patient may suggest some increased ventricular excitability using programmed ventricular stimulation in CASQ2 polymorphic ventricular tachycardia patients.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of Cardiovascular Electrophysiology 医学-心血管系统

CiteScore

5.20

自引率

14.80%

发文量

433

审稿时长

3-6 weeks

期刊介绍： Journal of Cardiovascular Electrophysiology (JCE) keeps its readership well informed of the latest developments in the study and management of arrhythmic disorders. Edited by Bradley P. Knight, M.D., and a distinguished international editorial board, JCE is the leading journal devoted to the study of the electrophysiology of the heart.