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Updated: Jun 16, 2026

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
Progressively complex exercise-induced ventricular arrhythmias unveiling catecholaminergic polymorphic ventricular
Marco Vecchiato1,2,3, Alessandro Zorzi4, Kalliopi Pilichou4
1Sports and Exercise Medicine Division, Department of Medicine, University of Padova, Via Giustiniani 2, Padova 35128, Italy.
Background:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by adrenergically mediated ventricular arrhythmias occurring in structurally normal hearts.
Case Summary:
A young asymptomatic female competitive football player with a structurally normal heart developed progressively complex exercise-induced ventricular arrhythmias over several years, leading to the diagnosis of CPVT confirmed by identification of a novel pathogenic RYR2 variant through familial cosegregation.
Discussion:
This case illustrates how CPVT may present with a subtle and fluctuating phenotype, remaining concealed for years despite regular cardiovascular screening in athletes. Serial exercise-based testing was crucial to unmask the arrhythmic substrate when resting investigations and family history were initially unremarkable. Comprehensive family evaluation enabled reclassification of a novel RYR2 variant, emphasizing the importance of integrating clinical and genetic data in inherited arrhythmia syndromes.
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