ArticleFrontiers in pediatrics2026
Clinical and genetic analysis of pediatric catecholaminergic polymorphic ventricular tachycardia: focus on sinus bradycardia and neurodevelopmental disorders.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare hereditary arrhythmia with high mortality risk. Its clinical presentation is heterogeneous, and diagnosis is often delayed. While typically characterized by exercise-induced ventricular arrhythmias, CPVT can be associated with complex clinical features such as sinus bradycardia and neurodevelopmental disorders (NDDs), which complicate management. This study aims to improve awareness of CPVT among clinicians by summarizing the clinical and genetic characteristics of seven CPVT patients, with particular emphasis on these under-recognized comorbidities. Methods: Children with CPVT admitted to the Department of Cardiology of Nanjing Children's Hospital diagnosed with pathogenic variants from January 2020 to January 2024 were selected as the study subjects. We conducted a retrospective analysis of their clinical and genetic characteristics of these children. Results: A total of seven patients with CPVT were included, whose median age of onset was 7.7 (7.0, 8.8) years, and the longest diagnostic delay was nearly 8 years. All patients experienced exercise or emotional agitation prior to symptom onset: five presented with syncope, one with palpitations, and one with cardiac arrest. Notably, one patient exhibited sinus bradycardia on resting ECG, and two patients had comorbid neurodevelopmental disorders. The genetic tests revealed that four patients had variants in the Conclusion: Here we analyzed the clinical and genetic characteristics of seven children with CPVT, and identified two novel variants in
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