癫痫-晕厥：两名中国CPVT儿童两种新的RYR2变异的临床意义。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene Pub Date : 2025-09-21 DOI:10.1016/j.gene.2025.149787

Qian Wang, Xuan Chen, Lianfu Ji, Jie Yin, Shiwei Yang

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引用次数: 0

摘要

背景：儿茶酚胺能多形性室性心动过速（CPVT）是一种遗传性心律失常综合征，是儿童心源性猝死（SCD）的主要原因。在已知的相关基因中，Ryanodine receptor 2 （RyR2）基因突变占CPVT患者的50%以上。结果：我们在两名分别表现为癫痫发作和复发性晕厥的中国儿科患者中发现了两种新的RYR2变异（p.F4889L和p.R2420M），这两名患者随后都通过基因检测被诊断为CPVT。具体来说，致病变异p.F4889L可能与恶性室性心律失常密切相关，这可能导致患者1的SCD。结论：这些发现强调了对类似病例进行全面临床和遗传学调查的必要性。植入式心律转复除颤器（ICD）植入术应优先用于CPVT患者，以预防SCD，特别是在儿科人群中。

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Seizure-Syncope: Clinical implications from two Chinese CPVT children with two novel RYR2 variants

Background

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary arrhythmia syndrome that represents a leading cause of sudden cardiac death (SCD) in children. Among known associated genes, mutations in the ryanodine receptor 2 (RYR2) gene account for over 50% of CPVT patients.

Results

We identified two novel RYR2 variants (p.F4889L and p.R2420M) in two Chinese pediatric patients who respectively presented with epileptic seizures and recurrent syncope, both subsequently diagnosed with CPVT through genetic testing. Specifically, the pathogenic variant p.F4889L may be strongly associated with malignant ventricular arrhythmias, which likely contributed to the SCD of patient 1.

Conclusions

These findings underscore the necessity of comprehensive clinical and genetic investigations in similar cases. Implantable cardioverter-defibrillator (ICD) implantation should be prioritized for CPVT patients to prevent SCD, particularly in pediatric populations.

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来源期刊

Gene 生物-遗传学

CiteScore

6.10

自引率

2.90%

发文量

718

审稿时长

42 days

期刊介绍： Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.