New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

J Cardiovasc Electrophysiol. 2015 Oct;26(10):1146-50. doi: 10.1111/jce.12763. Epub 2015 Sep 1.

Abstract

We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene. This is the second report of such a CPVT of autosomal recessive inheritance. Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C> T/p.Gln205* and c.22 + 29 A>G) were identified in the Triadin gene in 2 sibs who experienced early severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation. However, significant arrhythmias occurred after catecholaminergic stimulation. Each of the TRDN mutations was inherited from a healthy parent. In this family, genetic studies permit confirmation of the CPVT diagnosis in the 2 affected sibs and permit the early diagnosis of the third asymptomatic child. It also helped guide the therapeutic strategy in this family.

Keywords: catecholaminergic polymorphic ventricular tachycardia; genetic arrhythmias; presymptomatic testing; sudden cardiac death; triadin.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Family
  • Genetic Markers
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Muscle Proteins / genetics*
  • Tachycardia, Ventricular / classification
  • Tachycardia, Ventricular / diagnosis*
  • Tachycardia, Ventricular / genetics*

Substances

  • Carrier Proteins
  • Genetic Markers
  • Muscle Proteins
  • TRDN protein, human

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia