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

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.

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.

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.