ScholarWorks@경상국립대학교

초록

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but life-threatening inherited arrhythmia in children, often associated with sudden cardiac death (SCD). Risk stratification remains challenging. This study aimed to assess clinical characteristics, genetic profiles, and risk factors for adverse outcomes in Korean pediatric CPVT patients. We analyzed data from a multicenter registry across 16 pediatric cardiology centers in Korea. Of 369 patients with inherited arrhythmia syndromes, 39 (10.6%) were diagnosed with CPVT. Demographics, clinical management, and outcomes were evaluated. Incidence of breakthrough cardiac events (BCE), aborted cardiac arrest (ACA), and SCD were analyzed during follow-up. The mean age at diagnosis was 9.9 ± 3.2 years, with a 2.0 ± 2.5-year delay from symptom onset. Genetic testing was performed in 29 patients; RYR2 mutations were identified in 24 patients, including 21 distinct variants. Over a median follow-up of 59 months, 16 patients (41%) underwent left cardiac sympathetic denervation (LCSD), and 10 (25.6%) received implantable cardioverter-defibrillators (ICDs). BCE occurred in 46.1%, ACA in 25.6%, and SCD in 10.3%. Triple therapy with beta-blockers, flecainide, and LCSD significantly reduced BCEs (p = 0.044), but not ACA/SCD (p = 0.363). ICDs showed a trend in preventing ACA/SCD (p = 0.067), despite frequent complications. In conclusion, Korean pediatric CPVT patients showed clinical and genetic characteristics similar to global cohorts. Triple therapy with a beta-blocker, flecainide, and LCSD effectively reduced BCEs but did not prevent SCD. ICD-related complications were common, though ICDs showed a trend toward preventing ACA or SCD. These findings may help guide future therapeutic decision-making.

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