不适当窦性心动过速伴SCN10A基因突变一家系分析

目的 探讨窦性心动过速与SCN10A基因之间的关系。方法 收集一不适当窦性心动过速伴SCN10A基因变异家系的资料。以“窦性心动过速”“SCN10A”为检索词, 对以下数据库的相关论文进行检索：生物医学文献数据库（PubMed）、根哥学术（GeenMedical）、CNKI、万方数据知识服务平台、维普中文科技期刊数据库, 收集并分析检索到的SCN10A相关心脏疾病的文献资料。结果 患儿男, 12岁, 因剧烈运动后头晕、四肢乏力伴脸色苍白5年余, 发现心率增快2年余入院, 其父亲、姑母、胞姐均有“窦性心动过速”病史。患儿心电图示窦性心动过速（心率120~130次/分）。全外显子基因测序检测结果示其携带SCN10A及CACNA1S基因突变, 其胞姐基因变异位点一代测序显示相同的基因突变。检索文献共收集到5篇与SCN10A基因相关心脏疾病的文献, 提及SCN10A基因与心脏传导系统功能和多种心律失常密切相关, 其中包括心房颤动、Brugada综合征、心力衰竭、心肌肥厚等。结论 SCN10A基因突变或与不适当窦性心动过速相关, 这或能为其治疗提供新思路、新方向, 但仍需进一步研究加以验证。

Clinical analysis of a family of inappropriate sinus tachycardia with gene variation of SCN10A

Objective To investigate the association between sinus tachycardia and SCN10A gene. Methods A case of patient with inappropriate sinus tachycardia and SCN10A gene mutation was analyzed. Using the keywords of “sinus tachycardia”and“SCN10A”, relavant literatures were searched from PubMed, GeenMedical, CNKI, WangFang and Vip databases. Literatures of SCN10A-related heart disease were collected and analyzed. Results A 12-year-old boy was admitted to the hospital with “dizziness, weakness of limbs with pale after strenuous exercise for 5 years, and increased heart rate for 2 years”. The father, father’s sister and the boy’s sister had a medical history of “sinus tachycardia” in the family. The electrocardiogram showed sinus tachycardia （heart rate 120-130 bpm）. Whole exon sequencing revealed that the patient carried SCN10A and CACNA1S gene mutation. His sister had the same gene mutation. Five literatures of SCN10A-related heart diseases were collected, and the results showed that SCN10A gene was closely related to cardiac conduction system function and various arrhythmias, including atrial fibrillation, Brugada syndrome, heart failure and myocardial hypertrophy, etc. Conclusion In this study, it is believed that SCN10A gene mutation is closely related to inappropriate sinus tachycardia, which may provide new ideas and new directions for the treatment of inappropriate sinus tachycardia, further studies are needed to verify it.