发热诱发Brugada综合征中SCN5A变异及非SCN5A变异携带者的临床和心电图特征  

Clinical and electrocardiographic characteristics of carriers with SCN5A mutations and non-SCN5Amutations infever-induced Brugada syndrome

作　　者：沈可沁 张中和 陈甘潇 刘小熊[1] 范国华[2] 刘金秋[3] 夏豪[1] 江洪[1] 胡丹[1] Shen Keqin;Zhang Zhonghe;Chen Ganxiao;Liu Xiaoxiong;Fan Guohua;Liu Jinqiu;Xia Hao;Jiang Hong;Hu Dan(Department of Cardiology and Cardiovascular Research Institute,Renmin Hospital of Wuhan University,Hubei Key Laboratory of Cardiology,Wuhan 430060,China;Department of Thoracic Surgery,Renmin Hospital of Wuhan University,Wuhan 430060,China;Department of Cardiology,First Affiliated Hospital of Dalian Medical University,Dalian 116021,China)

机构地区：[1]武汉大学人民医院心血管内科及心血管病研究所、湖北省心脏重点实验室,武汉430060 [2]武汉大学人民医院胸外科,武汉430060 [3]大连医科大学附属第一医院心内科,大连116021

出　　处：《中华心血管病杂志》2024年第12期1377-1382,共6页Chinese Journal of Cardiology

基　　金：科技部国家重点研发计划(2023YFE0118300);国家自然科学基金(82270332,81670304,82370286);中央高校基本科研业务费-武汉大学自主研究项目(2042022kf1217)。

摘　　要：目的探索发热诱发Brugada综合征中SCN5A变异及非SCN5A变异携带者临床和心电图特征的差异。方法本研究为回顾性队列研究。选取2000年1月—2023年12月于武汉大学人民医院就诊的发热诱发的Brugada综合征患者263例,收集其诊断时及随访期间的临床表现、心电图特征及主要不良心血管事件(MACE)。其中200例接受了二代基因测序。根据基因变异结果,排除其他变异后,分为SCN5A变异组、非SCN5A钠相关变异组、钾/钙变异组和无变异组,并比较其临床和心电图特征。结果263例发热诱发的Brugada综合征患者首诊年龄(41.9±17.6)岁,其中男性占80.6%(212/263)。中位随访时间为53.0个月,13.7%(36/263)的患者发生了MACE。SCN5A变异率为34.5%(69/200),非SCN5A钠相关变异为4.5%(9/200),钾/钙相关变异为3.5%(7/200)。SCN5A变异组较非SCN5A钠相关变异组和无变异组年轻[年龄分别为(33.8±14.7)、(49.8±11.6)、(44.6±15.7)岁,P<0.001],较无变异组PR间期长[(176.8±32.3)ms比(163.9±28.6)ms,P=0.034],非SCN5A钠相关变异组的MACE发生率高于无变异组[55.6%(5/9)比9.1%(9/99),P=0.002]。结论携带非SCN5A变异的发热诱发的Brugada综合征患者在临床表现和电生理指标上与SCN5A变异患者存在明显差异,在临床上需引起重视。Objective:To investigate the differences in clinical and electrocardiographic characteristics between carriers of SCN5A mutations and non-SCN5A mutations in fever-induced Brugada syndrome.Methods:This study is a retrospective cohort study.A total of 263 patients with fever-induced Brugada syndrome who were admitted to Renmin Hospital of Wuhan University from January 2000 to December 2023 were selected.Their clinical manifestations,electrocardiographic characteristics,and major adverse cardiovascular events(MACE)at the time of diagnosis and during the follow-up period were collected.Among them,200 patients underwent next-generation sequencing.Based on the genetic variation results,after excluding other mutations,they were divided into SCN5A mutation group,non-SCN5A sodium-related mutation group,potassium/calcium mutation group,and no mutation group.Comparisons were made among these groups in terms of their clinical and electrocardiographic characteristics.Results:Among the 263 patients with fever-induced Brugada syndrome,the mean age was(41.9±17.6)years,with 80.6%(212/263)being male.The median follow-up duration was 53.0 months,and 13.7%(36/263)of the patients experienced MACE.The rate of SCN5A mutation was 34.5%(69/200),while the rates of non-SCN5A sodium-related mutations and potassium/calcium-related mutations were 4.5%(9/200)and 3.5%(7/200),respectively.The SCN5A mutation group was younger than the non-SCN5A sodium-related mutation group and the no mutation group(ages were(33.8±14.7),(49.8±11.6),(44.6±15.7)years,respectively,P<0.001).The SCN5A mutation group also had a longer PR interval than the no mutation group((176.8±32.3)ms vs.(163.9±28.6)ms,P=0.034).The incidence of MACE was higher in the non-SCN5A sodium-related mutation group than that in the no mutation group(55.6%(5/9)vs.9.1%(9/99),P=0.002).Conclusions:Fever-induced Brugada syndrome patients carrying non-SCN5A mutations exhibit distinct clinical and electrocardiographic characteristics compared to those with SCN5A mutations.These differences wa

关 键 词：BRUGADA综合征 发热 心原性猝死 遗传学 电生理 

分 类 号：R54[医药卫生—心血管疾病]