Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional...

Area of Science:

• Pediatric Cardiology
• Clinical Genetics
• Neurocardiology

Background:

• Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited heart rhythm disorder.
• RYR2 gene mutations are the primary cause of CPVT and have been linked to neuropsychiatric symptoms.

Purpose of the Study:

• To investigate the clinical and neuropsychiatric features of pediatric CPVT patients.
• To evaluate treatment outcomes and survival rates in children with CPVT.

Main Methods:

• Retrospective review of 23 pediatric CPVT patients (<19 years).
• Analysis of genetic data, neuropsychiatric history, arrhythmia burden, cardiac events, and overall survival.
• Comparison of treatment strategies and diagnostic periods.

Main Results:

• RYR2 variants found in 17 patients; 14 pathogenic/likely pathogenic.
• Neuropsychiatric conditions (intellectual disability, ADHD) seen in 43.5% of patients.
• 5-year event-free survival: 31.2%; 10-year overall survival: 73.1%.
• Combined flecainide and beta-blocker therapy significantly reduced cardiac events (HR 0.08).
• Left cardiac sympathetic denervation (LCSD) decreased arrhythmia burden.
• Near-fatal events predicted mortality (HR 33.40).

Conclusions:

• Neuropsychiatric manifestations are frequent in pediatric CPVT.
• Flecainide and/or LCSD, alongside beta-blockers, improve outcomes by reducing arrhythmias and cardiac events.
• Recent treatment advancements have enhanced survival rates for children with CPVT.