ARYA Atherosclerosis Journal

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

Document Type : Case Report

Authors

Mohammad Hossein Nikoo 1
Mohammad Reza Hatamnejad 2
Zahra Emkanjoo 3
Alireza Arjangzade 4
Mehdi Motahari Moadab 4
Mehdi Bazrafshan 2
Hamed Bazrafshan 5

1 Non-Communicable Disease Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

2 Faculty of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

3 Rajaie Cardiovascular, Medical and Research Center, Tehran, Iran

4 Department of Cardiology Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

5 Cardiovascular research center, Shiraz University of Medical Sciences, Shiraz, Iran

https://doi.org/10.48305/arya.2023.11842.0
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.

Keywords

Electrical Storm
Sudden Cardiac Death
GJB2 Gene
Cx26 Protein
Case Report
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ARYA Atherosclerosis Journal
Volume 20, Issue 2
March and April 2024
Pages 1-7

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