Novel variants inTECRLleading to catecholaminergic polymorphic ventricular tachycardia

Abstract

Pathogenic and likely pathogenic variants in theTECRLgene 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 inTECRL(c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons ofTECRL(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.