# Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia

## TL;DR

A new mutation in the TECRL gene is linked to a rare heart condition causing sudden cardiac death in young patients.

## Contribution

A novel TECRL variant is identified as a cause of type 3 catecholaminergic polymorphic ventricular tachycardia.

## Key findings

- Two missense mutations in the TECRL gene were found in a patient with CPVT.
- Functional studies suggest these mutations reduce protein expression and may cause CPVT.
- A novel TECRL mutation (p.Pro290Ser) was discovered and linked to CPVT3.

## Abstract

Catecholaminergic 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.

We 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.

In this study, functional studies implicate these variants as the cause of CPVT in this patient.