| 摘要: |
| 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 |
| 关键词: SCN5A 基因 Brugada 综合征 长 QT 间期综合征 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2023.07.013 |
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| 基金项目: |
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| Clinical Analysis of SCN5A Gene Mutation Related Arrhythmia in Children |
| Zhang Haiyan, Yao Ru’en, Xu Jing |
| (Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127 ,China) |
| Abstract: |
| 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. |
| Key words: SCN5A gene Brugada syndrome long QT interval syndrome |
