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Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings
Author(s) -
WALSH MARK A.,
STUART ALAN G.,
SCHLECHT HELENE B.,
JAMES ANDREW F.,
HANCOX JULES C.,
NEWBURYECOB RUTH A.
Publication year - 2016
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/pace.12813
Subject(s) - medicine , flecainide , mutation , ventricular fibrillation , cardiology , sudden cardiac arrest , compound heterozygosity , phenotype , sudden cardiac death , blockade , atrial fibrillation , gene , genetics , receptor , biology
We 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.