Cardiac Arrest in a Young Woman: A Near Miss Diagnosis

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare channelopathy involving cardiac cal-cium metabolism that often shows up at an early age with misleading clinical symptoms such as emotion or exercise-related syncope with a normal resting ECG, however, if misdiagnosed, CPVT can lead to cardiac arrest in children or young adults.We describe the case of a 27-year-old woman with several misdiagnosed syncopal episodes leading to out-of -hospital cardiac arrest (OHCA). Her previous medical history, combined with automatic external defibrillator re-cords (AED) and clinical data, strongly suggested the diagnosis of CPVT. Thus beta blocker therapy was immedi-ately started and targeted genetic test undertaken, revealing a previously unreported heterozygous variant in the ryanodine receptor-2 (RYR2) gene.(c) 2022 Elsevier Inc. All rights reserved.

Automated summary

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare channelopathy that often presents in early age with misleading symptoms. This case report highlights the importance of accurate diagnosis and timely treatment in preventing fatal cardiac events associated with CPVT.