The association between GJB2 gene (producing Cx26 protein) and the ventricular storm: A case report.

IF 0.5 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

ARYA Atherosclerosis Pub Date : 2024-03-01 DOI:10.48305/arya.2023.11842.0

Mohammad Hossein Nikoo, Mohammad Reza Hatamnejad, Zahra Emkanjoo, Alireza Arjangzadeh, Mehdi Motahari Moadab, Mehdi Bazrafshan, Hamed Bazrafshan Drissi

{"title":"The association between GJB2 gene (producing Cx26 protein) and the ventricular storm: A case report.","authors":"Mohammad Hossein Nikoo, Mohammad Reza Hatamnejad, Zahra Emkanjoo, Alireza Arjangzadeh, Mehdi Motahari Moadab, Mehdi Bazrafshan, Hamed Bazrafshan Drissi","doi":"10.48305/arya.2023.11842.0","DOIUrl":null,"url":null,"abstract":"Background: A structural heart disease or functional electrical abnormalities can cause an electrical storm.Case presentation: We present a young boy with an electrical storm who had no cardiac risk factors and a positive family history of sudden cardiac death. The stepwise diagnostic approach was ineffective in determining previously known causes as the origin of the electrical storm. However, whole-exome sequencing (with Next Generation Illumina Sequencing) revealed a mutation in the GJB2 (NM_004004:exon2:c.G71A:p.W24X) gene.Conclusion: A mutation in the GJB2 gene, which forms the connexin 26 protein, a crucial component of the myocytes' intercalated disc of gap junction complex between the myocytes, results in an abnormal electrical cell-by-cell conductance, and, eventually, ventricular storm. General anesthesia was used to control the storm, and intracardiac pacing was fruitful in ceasing the subsequent VT storms.","PeriodicalId":46477,"journal":{"name":"ARYA Atherosclerosis","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335029/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"ARYA Atherosclerosis","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.48305/arya.2023.11842.0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}

引用次数: 0

Abstract

Background: A structural heart disease or functional electrical abnormalities can cause an electrical storm.

Case presentation: We present a young boy with an electrical storm who had no cardiac risk factors and a positive family history of sudden cardiac death. The stepwise diagnostic approach was ineffective in determining previously known causes as the origin of the electrical storm. However, whole-exome sequencing (with Next Generation Illumina Sequencing) revealed a mutation in the GJB2 (NM_004004:exon2:c.G71A:p.W24X) gene.

Conclusion: A mutation in the GJB2 gene, which forms the connexin 26 protein, a crucial component of the myocytes' intercalated disc of gap junction complex between the myocytes, results in an abnormal electrical cell-by-cell conductance, and, eventually, ventricular storm. General anesthesia was used to control the storm, and intracardiac pacing was fruitful in ceasing the subsequent VT storms.

查看原文本刊更多论文

GJB2 基因（产生 Cx26 蛋白）与心室风暴之间的关联：病例报告。

背景：结构性心脏病或功能性电异常可导致电风暴：结构性心脏病或功能性电异常可导致电风暴：我们介绍了一名患有电击风暴的小男孩，他没有心脏风险因素，但有阳性心脏性猝死家族史。循序渐进的诊断方法无法确定电风暴的起因是之前已知的病因。然而，全外显子组测序（使用下一代 Illumina 测序技术）发现了 GJB2（NM_004004:exon2:c.G71A:p.W24X）基因突变：GJB2基因是构成肌细胞间隙连接复合物的肌细胞闰盘的重要组成部分，该基因突变会导致细胞间电传导异常，并最终导致心室风暴。医生采用全身麻醉控制了风暴，并通过心内起搏成功终止了随后的室颤风暴。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

ARYA Atherosclerosis CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

1.00

自引率

0.00%

发文量

审稿时长

18 weeks