Why the study?
Interpreting novel variants in CPVT is challenging due to the high polymorphism of RYR2, complicating diagnosis when clinical presentations do not match classic profiles.
Population
1 14-year-old male who suffered out-of-hospital cardiac arrest
Design
Case report
Key result
A 14-year-old male with sudden cardiac arrest and atypical clinical presentation was diagnosed with CPVT after genetic sequencing revealed a likely pathogenic RYR2 variant (c.12370A>G).
Authors
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Supports genetic testing for CPVT in SCA survivors with atypical arrhythmias; extends known phenotypic spectrum.
Case Report (n=1)
No
Genetic testing can guide the diagnosis of CPVT in sudden cardiac arrest survivors when clinical presentation does not fully match the classic profile.
Książczyk et al. (2026) conducted a case report in Sudden cardiac arrest / Catecholaminergic Polymorphic Ventricular Tachycardia (n=1). Propranolol and flecainide was evaluated. A 14-year-old male with sudden cardiac arrest and atypical clinical presentation was diagnosed with CPVT after genetic sequencing revealed a likely pathogenic RYR2 variant (c.12370A>G).