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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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1549827/full |
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| author | Yun Chen Jie Shen Long Chen Ling Sun |
| author_facet | Yun Chen Jie Shen Long Chen Ling Sun |
| author_sort | Yun Chen |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d9cd00503f95409dbf6e283cb50d079e |
| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj-art-d9cd00503f95409dbf6e283cb50d079e2025-08-20T03:09:44ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-05-011310.3389/fped.2025.15498271549827Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardiaYun Chen0Jie Shen1Long Chen2Ling Sun3Department of Cardiology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Cardiology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Echocardiography, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Cardiology, Children’s Hospital of Soochow University, Suzhou, ChinaBackgroundCatecholaminergic 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.https://www.frontiersin.org/articles/10.3389/fped.2025.1549827/fullsudden cardiac deathlong QT syndromecatecholaminergic polymorphic ventricular tachycardiapediatricTECRLfunctional analysis |
| spellingShingle | Yun Chen Jie Shen Long Chen Ling Sun Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia Frontiers in Pediatrics sudden cardiac death long QT syndrome catecholaminergic polymorphic ventricular tachycardia pediatric TECRL functional analysis |
| title | Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia |
| title_full | Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia |
| title_fullStr | Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia |
| title_full_unstemmed | Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia |
| title_short | Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia |
| title_sort | identification of a novel tecrl variant causing type 3 catecholaminergic polymorphic ventricular tachycardia |
| topic | sudden cardiac death long QT syndrome catecholaminergic polymorphic ventricular tachycardia pediatric TECRL functional analysis |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1549827/full |
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