RT Journal Article SR Electronic T1 Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia JF Life Science Alliance JO Life Sci. Alliance FD Life Science Alliance LLC SP e202402572 DO 10.26508/lsa.202402572 VO 7 IS 8 A1 Jones, Douglas A1 Hartung, Jacob A1 Lasalle, Elizabeth A1 Borquez, Alejandro A1 Murillo, Viridiana A1 Guidugli, Lucia A1 James, Kiely N A1 Kingsmore, Stephen F A1 Coufal, Nicole G YR 2024 UL http://www.life-science-alliance.org/content/7/8/e202402572.abstract AB Pathogenic and likely pathogenic variants in the TECRL 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 TECRL (c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of TECRL (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.ClinVar accession number VCV001766009.3, Variation ID: 1766009, and Identifiers NM_001010874.5 (TECRL):c.915T>G (p.Tyr305Ter) are available at https://www.ncbi.nlm.nih.gov/clinvar/variation/1766009/.Ethics statementInformed and signed consent forms were obtained for all sequenced individuals in this study. The project is approved by the Institutional Review Board of the University of California at San Diego and has received non-significant risk status in a pre-Investigational Device Exemption submission to the Food and Drug Administration.