SCN5A基因突变相关儿童心律失常临床分析

Clinical Analysis of SCN5A Gene Mutation Related Arrhythmia in Children

目的:探讨SCN5A基因突变与儿童心律失常的关系。方法:回顾分析2018年1月至2020年6月我院诊治的8例心律失常合并SCN5A基因突变患儿的临床资料。结果:8例患儿中男7例、女1例,年龄5.5(2.5~7.0)岁。晕厥发作为主要临床表现,发生率为87.5%(7/8)。其中1例晕厥发作与窦性静止、房扑有关,6例晕厥发作与室性心动过速发生有关。6例发生室性心动过速的患儿中,结合心电图及基因检查,4例诊断为Brugada综合征(Brs),1例为3型长QT间期综合征(LQT3),1例为Brs合并LQT3。3例患儿合并有左心功能射血分数的明显下降。结论:SCN5A基因突变与儿童恶性心律失常有关,需要引起重视,必要时应尽早行基因组测序予以精准的治疗。

Objective:To investigate the correlation between SCN5A gene mutation and arrhythmia in children.Methods:Clinical data of 8 patients with arrhythmia complicated with SCN5A gene mutation diagnosed and treated in our hospital from Jan.2018 to Jun.2020 were retrospectively analyzed.Results:Among the 8 patients,7 were males and 1 was female,with age of 5.5(from 2.5 to 7.0)years.Syncope was the main clinical manifestation,with an incidence of 87.5%(7/8).One case of syncope was related to sinus arrest and atrial flutter,and 6 cases were related to ventricular tachycardia.Combined with electrocardiogram and gene examination in 6 cases of ventricular tachycardia,4 cases were diagnosed as Brugada syndrome(Brs),1 case was type 3 long QT interval syndrome(LQT3),and 1 case was Brs complicated with LQT3.Three patients had significant decrease of left ventricular function.Conclusion:SCN5A gene mutation is associated with malignant arrhythmia in children,which needs to be paid attention to.If necessary,genome sequencing should be carried out as soon as possible for accurate treatment.