Cardiac Arrest in a Young Woman: A Near Miss Diagnosis

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare channelopathy involving cardiac calcium 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 records (AED) and clinical data, strongly suggested the diagnosis of CPVT. Thus beta blocker therapy was immediately started and targeted genetic test undertaken, revealing a previously unreported heterozygous variant in the ryanodine receptor-2 (RYR2) gene.