1. Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.
- Author
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Jones, Douglas, Hartung, Jacob, Lasalle, Elizabeth, Borquez, Alejandro, Murillo, Viridiana, Guidugli, Lucia, James, Kiely, Kingsmore, Stephen, and Coufal, Nicole
- Subjects
Humans ,Tachycardia ,Ventricular ,Male ,Adolescent ,Pedigree ,Mutation ,Electrocardiography ,Genetic Predisposition to Disease ,Whole Genome Sequencing - Abstract
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.
- Published
- 2024