Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly malignant genetic channelopathy associated with exertional syncope and reproducible polymorphic ventricular tachycardia with exercise. Approximately 65% of patients with CPVT are found to have a disease causing mutation in the RYR2 gene. RYR2 encodes a calcium ion transporter in the… CONTINUE READING