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May 22, 2026European Heart Journal - Case ReportsOpen Access

Serial exercise testing and genetic evaluation identify concealed CPVT and a novel RYR2 variant.

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Design

Case report

Follow-up

Several years

Key result

Serial exercise-based testing and genetic evaluation successfully diagnosed concealed catecholaminergic polymorphic ventricular tachycardia and identified a novel pathogenic RYR2 variant in an athlete.

Authors

MVMarco VecchiatoAZAlessandro ZorziKPKalliopi Pilichou

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Overview

May prompt genetic testing in athletes with progressive exercise-induced arrhythmias; extends CPVT variant spectrum but leaves management implications open.

Key Points

  • This case report aims to illustrate the presentation of catecholaminergic polymorphic ventricular tachycardia (CPVT) in a young athlete with a novel RYR2 variant.
  • Female competitive football player with structurally normal heart presented with exercise-induced ventricular arrhythmias.
  • Identified a novel pathogenic RYR2 variant through familial co-segregation and comprehensive evaluation.
  • Serial exercise testing uncovered the arrhythmic substrate after initial resting investigations showed no abnormalities.
  • Diagnosed with CPVT after developing progressively complex ventricular arrhythmias during exercise.
  • Novel RYR2 variant confirmed through family evaluations, indicating its pathogenicity.
  • Emphasized the role of integrating clinical and genetic data in managing inherited arrhythmias.

Study Design

Type

Case Report (n=1)

Structured PICO

P
Population
A young asymptomatic female competitive football player with a structurally normal heart who developed progressively complex exercise-induced ventricular arrhythmias.
I
Intervention
Serial exercise-based testing and comprehensive family genetic evaluation.
O
Outcome
Diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) and identification of a novel pathogenic RYR2 variant.

Serial exercise testing and comprehensive family genetic evaluation are crucial for unmasking concealed CPVT in athletes with initially unremarkable resting investigations.

Cite This Study

Vecchiato et al. (2026) conducted a case report in Catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=1). Serial exercise-based testing and genetic evaluation was evaluated on Diagnosis of CPVT and identification of a pathogenic RYR2 variant. Serial exercise-based testing and genetic evaluation successfully diagnosed concealed catecholaminergic polymorphic ventricular tachycardia and identified a novel pathogenic RYR2 variant in an athlete.

synapsesocial.com/papers/6a0ff452d674f7c03778d8a5https://doi.org/10.1093/ehjcr/ytag377
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1PO52 Predicaments in diagnosing victim of sudden cardiac arrest in an adolescent2026
  2. 2PO44 Predicaments in diagnosing victim of sudden cardiac arrest in an adolescent2026
  3. 3PO97 Predicaments in diagnosing victim of sudden cardiac arrest in an adolescent2026
  4. 4Catecholaminergic Polymorphic Ventricular Tachycardia: Multiple Clinical Presentations of a Genetically Determined Disease2023 · 6 citations
  5. 5A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene2020 · 4 citations