Novel trans-2,3-enoyl-CoA reductase–like variant associated with catecholaminergic polymorphic ventricular tachycardia type 3

Trans‐2,3‐enoyl‐CoA reductase‐like‐related catecholaminergic polymorphic ventricular tachycardia with regular ventricular tachycardia and response to flecainide

“…Finally, although we have not documented life-threatening arrhythmias in heterozygous carriers of pathogenic TECRL variants to date, the father's PVC phenotype may be a mild cardiac expression of single pathogenic TECRL allele, as has been suggested in another case report. 15 However, exercise-induced PVCs occur in patients without genetic arrhythmia disease, and we cannot demonstrate causality between his heterozygous state and the PVCs.…”

Novel variants inTECRLleading to catecholaminergic polymorphic ventricular tachycardia

“…Genetic sequencing confirmed a novel TECRL variant, a homozygous c.742_758 del variant that resulted in a protein variant (p.Arg248Cysfs∗). In both cases, there was a strong family history of consanguinity and both patients eventually required dual therapy with both a beta-blocker and flecainide ( Charafeddine et al, 2023 ).…”

“…Genetic sequencing confirmed a novel TECRL variant, a homozygous c.742_758 del variant that resulted in a protein variant (p.Arg248Cysfsp). In both cases, there was a strong family history of consanguinity and both patients eventually required dual therapy with both a beta-blocker and flecainide (Charafeddine et al, 2023). The first-line therapeutic option for patients with CPVT involves non-selective beta-blockade (propranolol and nadolol) combined with exercise restriction.…”

Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia

“… 3 Loss-of-function variants of TECRL were initially reported as a plausible cause for autosomal-recessive CPVT. 4 Most previously reported TECRL -CPVT cases have homozygous variants, 1 , 5 probably because of consanguineous marriage, although there are a few cases with compound heterozygous variants. 6 , 7 This case is the first instance of Japanese CPVT caused by novel compound heterozygous variants in TECRL gene.…”

“…The patient has been free of symptoms since starting combination therapy with a β-blocker and flecainide, which is consistent with those previously reported cases. 5 , 10 …”