SCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient

儿童患者出现心房扑动,揭示了SCN5A基因突变相关的病态窦房结综合征

阅读:1

Abstract

Atrial flutter (AFL) is uncommon in children without underlying heart disease. This report details the case of a 7-year-old boy with AFL detected during school electrocardiogram (ECG) screening. He had no prior arrhythmias, congenital heart disease, or cardiomyopathy. Initial evaluations showed AFL with right bundle branch block but no structural heart abnormalities. Radiofrequency catheter ablation (RFCA) was performed, initially resolving the AFL but resulting in a 13-s sinus arrest requiring atrial pacing. Post-RFCA, the patient experienced a sinus arrest lasting up to 7 s, leading to a diagnosis of sick sinus syndrome (SSS). A second RFCA was needed due to AFL recurrence, and post-ablation ECGs revealed saddleback-type ST-segment elevation and Brugada-type patterns, raising suspicion of Brugada syndrome (BrS). Genetic testing identified a loss-of-function (LOF) SCN5A variant (c.2678G > A p.R893H) in the patient, his mother, and his sister. This case underscores that AFL in children without structural heart disease, especially when associated with SSS, may be linked to LOF SCN5A variants, which are also associated with BrS. LEARNING OBJECTIVE: Atrial flutter in children without structural heart disease can be linked to genetic factors with Brugada syndrome (BrS). This case highlights the importance of thorough diagnostic evaluation, including family history and genetic testing, when rare arrhythmias are present. Early detection of BrS through detailed electrocardiographic findings and family screening can help identify at-risk individuals and guide appropriate management to prevent serious arrhythmias and sudden cardiac death.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。