Case Report: <i>SCN5A</i> mutations in three young patients with sick sinus syndrome

作者全名："Liang, Jiayu; Luo, Suxin; Huang, Bi"

作者地址："[Liang, Jiayu; Luo, Suxin; Huang, Bi] Chongqing Med Univ, Dept Cardiol, Affiliated Hosp 1, Chongqing, Peoples R China"

通信作者："Luo, SX; Huang, B (通讯作者)，Chongqing Med Univ, Dept Cardiol, Affiliated Hosp 1, Chongqing, Peoples R China."

来源：FRONTIERS IN CARDIOVASCULAR MEDICINE

ESI学科分类：　

WOS号：WOS:001125203100001

JCR分区：Q2

影响因子：2.8

年份：2023

卷号：10

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：sick sinus syndrome; gene mutation; SCN5A gene; gene testing; pacemaker implantation

摘要："Background Sick Sinus Syndrome (SSS) is generally regarded as a degenerative disease with aging; however, genetic mutations have been confirmed to be associated with SSS. Among them, mutations in SCN5A are common in patients with SSS. We report three young SSS patients with SCN5A mutations at different sites that have not been previously reported in Asian patients.Case presentation The three patients were all young females who presented with symptoms of severe bradycardia and paroxysmal atrial flutter, for which two patients received ablation therapy. However, after ablation, Holter monitoring indicated a significant long cardiac arrest; therefore, the patients received pacemaker implantation. The three patients had familial SSS, and genetic testing was performed. Mutations were found in SCN5A at different sites in the three families. All three patients received pacemaker implantation, resulting in the symptoms of severe bradycardia disappearing.Conclusion SCN5A heterozygous mutations are common among patients clinically affected by SSS. Their causative role is confirmed by our data and by the co-occurrence of genetic arrhythmias among our patients. Genetic testing for SSS cannot be performed as a single gene panel because of feasible literature results, but in presence of familial and personal history of SSS in association with arrhythmias can provide clinically useful information."

基金机构：Project of Chongqing Talent Plan

基金资助正文：We would like to thank all of the patients for their participation in this study.