Nikoo Mohammad Hossein, Hatamnejad Mohammad Reza, Emkanjoo Zahra, Arjangzadeh Alireza, Motahari Moadab Mehdi, Bazrafshan Mehdi, Bazrafshan Drissi Hamed
Non-Communicable Disease Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Faculty of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
ARYA Atheroscler. 2024 Mar-Apr;20(2):1-7. doi: 10.48305/arya.2023.11842.0.
A structural heart disease or functional electrical abnormalities can cause an electrical storm.
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.
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.
结构性心脏病或功能性电异常可导致电风暴。
我们报告一名患有电风暴的年轻男孩，他没有心脏危险因素，但有心脏性猝死的家族史阳性。逐步诊断方法未能确定电风暴的已知病因。然而，全外显子组测序（采用下一代Illumina测序）显示GJB2基因（NM_004004:exon2:c.G71A:p.W24X）存在突变。
GJB2基因发生突变，该基因形成连接蛋白26，是心肌细胞间闰盘间隙连接复合体的关键组成部分，导致细胞间电传导异常，最终引发室性风暴。使用全身麻醉控制风暴，心内起搏成功终止了随后的室性心动过速风暴。
