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March 21, 2026European Journal of Preventive Cardiology

Genetic sequencing identifies a rare RYR2 variant guiding CPVT diagnosis after atypical sudden cardiac arrest.

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Why the study?

Interpreting novel variants in RYR2 is challenging due to high gene polymorphism, creating diagnostic predicaments in suspected catecholaminergic polymorphic ventricular tachycardia.

Population

14-year-old male who suffered out-of-hospital cardiac arrest

Design

Case report

Key result

A 14-year-old male with atypical sudden cardiac arrest was diagnosed with CPVT guided by the identification of a rare, likely pathogenic RYR2 variant (c.12370A>G).

Authors

TKTomasz M. KsiążczykRPRadosław PietrzakIPIzabela Pągowska-Klimek

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Overview

Supports genetic testing for CPVT in atypical sudden cardiac arrest; extends diagnostic reach of RYR2 sequencing.

Key Points

  • To explore the diagnostic challenges of catecholaminergic polymorphic ventricular tachycardia in a case of sudden cardiac arrest in an adolescent.
  • Presenting a case study of a 14-year-old male with cardiac arrest during physical activity.
  • Conducting extensive diagnostic workup including ECG, echocardiography, CT scan, and genetic sequencing.
  • Monitoring the patient in ICU, assessing hemodynamic status and arrhythmic episodes.
  • The patient experienced ventricular fibrillation and was successfully resuscitated.
  • Genetic sequencing identified a rare likely pathogenic variant in the RYR2 gene.
  • Treatment with propranolol and flecainide resulted in no further arrhythmic events.

Study Design

Type

Case Report (n=1)

Structured PICO

P
Population
14-year-old male who suffered out-of-hospital cardiac arrest
I
Intervention
Genetic sequencing, followed by treatment with propranolol and flecainide
O
Outcome
Diagnosis of CPVT and prevention of further arrhythmic events

Genetic testing can guide the diagnosis of CPVT in sudden cardiac arrest victims when clinical presentation is atypical.

Cite This Study

Książczyk et al. (2026) conducted a case report in Sudden cardiac arrest / Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) (n=1). Genetic sequencing / Propranolol and flecainide was evaluated. A 14-year-old male with atypical sudden cardiac arrest was diagnosed with CPVT guided by the identification of a rare, likely pathogenic RYR2 variant (c.12370A>G).

synapsesocial.com/papers/69be387d6e48c4981c678f92https://doi.org/10.1093/eurjpc/zwag115.092
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