AI Article Synopsis
- - Two siblings experienced cardiac arrest at age 2 and both received internal cardiac defibrillators due to repeated episodes of ventricular fibrillation (VF).
- - Genetic testing revealed a compound heterozygous mutation in the triadin gene, which contributes to their severe heart issues; one mutation is known while the other is new.
- - Flecainide medication showed significant effectiveness in preventing heart rhythm problems related to their specific genetic mutations, even with ongoing β-blocker treatment.
Article Abstract
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.
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| http://dx.doi.org/10.1111/pace.12813 | DOI Listing |
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