Progressively complex exercise-induced ventricular arrhythmias unveiling catecholaminergic polymorphic ventricular tachycardia associated with a novel RYR2 variant in a competitive athlete: a case report

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by adrenergically mediated ventricular arrhythmias occurring in structurally normal hearts.

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.

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.