Lee Joowon, Kwon Bo Sang, Song Mi Kyoung, Lee Sang-Yun, Ko Jung Min, Kim Gi Beom, Bae Eun Jung
Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.
Division of Pediatric Cardiac Surgery, Department of Thoracic and Cardiovascular Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Korean Circ J. 2024 Dec;54(12):853-864. doi: 10.4070/kcj.2024.0183.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, , the major CPVT-causative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
We retrospectively reviewed 23 patients diagnosed with CPVT before 19 years of age. Genetic analysis, history of neuropsychiatric manifestations, changes in ventricular arrhythmia burden before and after treatment, occurrence of cardiac events, and overall survival (OS) were investigated.
variants were identified in 17 patients, and 14 were classified as pathogenic or likely pathogenic. Neuropsychiatric manifestations, including intellectual disability and attention deficit hyperactivity disorder, were identified in 10 patients (43.5%). The 5-year cardiac event-free survival rate was 31.2%, and the 10-year OS rate was 73.1%. Patients diagnosed since 2009 had a higher cardiac event-free survival rate than those diagnosed before 2009 (p=0.0028). Combined beta-blocker and flecainide therapy demonstrated a lower risk of cardiac events than beta-blocker monotherapy (hazard ratio [HR], 0.08; 95% confidence interval [CI], 0.02-0.38; p=0.002). Left cardiac sympathetic denervation (LCSD) reduced the ventricular arrhythmia burden in Holter monitoring. Occurrence of near-fatal cardiac events after diagnosis was an independent predictor of death (HR, 33.40; 95% CI, 6.23-179.95; p<0.001).
Neuropsychiatric manifestations are common in children with CPVT. Flecainide and/or LCSD, when added to beta-blocker therapy, reduce the ventricular arrhythmia burden and cardiac events, thereby improving treatment outcomes in recent years.
儿茶酚胺能多形性室性心动过速（CPVT）是一种危及生命的遗传性致心律失常疾病。最近，主要的CPVT致病基因与神经精神表现有关。我们旨在分析CPVT患儿的临床表现、神经精神表现及治疗结果。
我们回顾性分析了23例19岁前诊断为CPVT的患者。研究了基因分析、神经精神表现病史、治疗前后室性心律失常负担的变化、心脏事件的发生情况及总生存率（OS）。
17例患者鉴定出基因变异，14例被分类为致病或可能致病。10例患者（43.5%）出现神经精神表现，包括智力障碍和注意力缺陷多动障碍。5年无心脏事件生存率为31.2%，10年总生存率为73.1%。2009年以后诊断的患者无心脏事件生存率高于2009年以前诊断的患者（p=0.0028）。β受体阻滞剂联合氟卡尼治疗比单纯β受体阻滞剂治疗心脏事件风险更低（风险比[HR]，0.08；95%置信区间[CI]，0.02 - 0.38；p=0.002）。左心交感神经去神经支配术（LCSD）降低了动态心电图监测中的室性心律失常负担。诊断后发生近致命性心脏事件是死亡的独立预测因素（HR，33.40；95%CI，6.23 - 179.95；p<0.001）。
神经精神表现在CPVT患儿中很常见。近年来，氟卡尼和/或LCSD与β受体阻滞剂联合治疗可减轻室性心律失常负担和心脏事件，从而改善治疗效果。
