Autosomal recessive RYR2 genetic mutation presenting as atrioventricular block and polymorphic ventricular tachycardia in a young female

A young woman in her thirties, born out of consanguineous marriage, with no family history of sudden cardiac death, initially presented with symptomatic high-grade atrioventricular (AV) block, for which she underwent a dual-chamber left bundle branch area pacemaker implantation. She subsequently developed recurrent episodes of polymorphic ventricular tachycardia (PVT) and was found to have an autosomal recessive mutation for catecholaminergic polymorphic ventricular tachycardia (CPVT).