B-PO04-001 CHARACTERIZATION OF EXTREME N-TERMINAL RYR2 VARIANTS FOUND OUTSIDE CPVT1 VARIANT CLUSTER REGIONS SHOW CA2+ HANDLING ABNORMALITIES CONSISTENT WITH CLASSICAL CPVT

Catecholaminergic polymorphic ventricular tachycardia is characterized by stress-induced ventricular tachycardia often leading to syncope and sudden death. Pathogenic variants in the RYR2-encoded ryanodine receptor 2 (RyR2) underlie CPVT1 and cluster into 4 distinct regions with cluster-I spanning from amino acids 77-466. To characterize functionally novel N-terminal (N-term) RyR2 variants located outside of cluster-I and a classical CPVT1...