Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings

Mark A Walsh, A Graham Stuart, Helene Schlecht, Andrew F James, Jules C Hancox, Ruth A Newbury-Ecob

Research output: Contribution to journalArticle (Academic Journal)peer-review

12 Citations (Scopus)

Abstract

We present the case of 2 siblings who both presented with an out-of-hospital cardiac arrest at 2 years of age. Both siblings underwent ICD implantation and both had recurrent episodes of ventricular fibrillation. A compound heterozygous mutation in the triadin gene was discovered; one of these mutations has been described previously in the homozygous state, and the other one is unreported. The combination of these mutations has resulted in a particularly arrhythmogenic phenotype, with cardiac arrest occurring at a very young age and recurrent episodes of ventricular fibrillation despite β-blockade. Flecainide seems to have been very effective in preventing clinical arrhythmias for this particular mutation. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)497-501
Number of pages5
JournalPacing and Clinical Electrophysiology
Volume39
Issue number5
Early online date2 Mar 2016
DOIs
Publication statusPublished - May 2016

Keywords

  • triadin
  • cardiac arrest
  • pediatrics
  • CPVT
  • ventricular fibrillation

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