the association between gjb2 gene (producing cx26 protein) and the ventricular storm: a case report

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.