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Pacing Clin Electrophysiol · May 2016
Case ReportsCompound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
- Mark A Walsh, Alan G Stuart, Helene B Schlecht, Andrew F James, Jules C Hancox, and Ruth A Newbury-Ecob.
- Bristol Royal Hospital for Children, Bristol, UK.
- Pacing Clin Electrophysiol. 2016 May 1; 39 (5): 497-501.
AbstractWe present the case of two siblings who both presented with an out-of-hospital cardiac arrest at 2 years of age. Both siblings underwent internal cardiac defibrillator implantation and both had recurrent episodes of ventricular fibrillation (VF). 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 VF despite β-blockade. Flecainide seems to have been very effective in preventing clinical arrhythmias for this particular mutation.©2016 Crown Copyright and Wiley Periodicals, Inc. Pacing and Clinical Electrophysiology © 2016 Wiley Periodicals, Inc.
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