Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia
BackgroundCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a leading cause of sudden cardiac death (SCD) in young patients, characterized by bidirectional or polymorphic ventricular tachycardia often induced by physical exertion or emotional stress.ResultsWe analyzed a 12-year-old gir...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1549827/full |
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| Summary: | BackgroundCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a leading cause of sudden cardiac death (SCD) in young patients, characterized by bidirectional or polymorphic ventricular tachycardia often induced by physical exertion or emotional stress.ResultsWe analyzed a 12-year-old girl with CPVT who suffered cardiac and respiratory arrest. Clinical data were derived from medical records. Whole-exome sequencing (WES) and Sanger sequencing identified two missense mutations in the trans-2,3-enoyl-CoA reductase-like (TECRL) gene (NM_001010874.5: c.587G > A p.Arg196Gln and NM_001010874.5: c.868C > T p.Pro290Ser), potentially pathogenic and associated with type 3 CPVT (CPVT3). Functional studies suggested both mutations could lead to reduced protein expression. We also discovered a novel TECRL mutation (NM_001010874.5: c.868C > T p.Pro290Ser). This study further supports the role of TECRL as one cause of CPVT.ConclusionsIn this study, functional studies implicate these variants as the cause of CPVT in this patient. |
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| ISSN: | 2296-2360 |