Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings

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.