Mohammad Hossein Nikoo, Mohammad Reza Hatamnejad, Zahra Emkanjoo, Alireza Arjangzadeh, Mehdi Motahari Moadab, Mehdi Bazrafshan, Hamed Bazrafshan Drissi
{"title":"GJB2 基因（产生 Cx26 蛋白）与心室风暴之间的关联：病例报告。","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":"<p><strong>Background: </strong>A structural heart disease or functional electrical abnormalities can cause an electrical storm.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":46477,"journal":{"name":"ARYA Atherosclerosis","volume":"20 2","pages":"1-7"},"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":"{\"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\":\"<p><strong>Background: </strong>A structural heart disease or functional electrical abnormalities can cause an electrical storm.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":46477,\"journal\":{\"name\":\"ARYA Atherosclerosis\",\"volume\":\"20 2\",\"pages\":\"1-7\"},\"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}","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}
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.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
