Novel variants in leading to catecholaminergic polymorphic ventricular tachycardia.

Pathogenic and likely pathogenic variants in the gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in (c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of (chr4:65165944-65185287, dup [4q13.1]) not identified in the mother. Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication.