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

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2026
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Ranked #168 of 286 articles by views in European Heart Journal - Case Reports

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Abstract
Abstract 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 co-segregation. 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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openalex_W7161849624 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Marco Vecchiato, Alessandro Zorzi, Kalliopi Pilichou, Valentina Pescatore, Erica Brugin
Journal European Heart Journal - Case Reports
Year 2026
DOI
10.1093/ehjcr/ytag377
URL
https://doi.org/10.1093/ehjcr/ytag377
Keywords Keywords not found

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