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

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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.

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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。

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