Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings

Pacing and Clinical Electrophysiology : PACE
Mark A WalshRuth A Newbury-Ecob

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.

References

Mar 31, 2009·Nature Medicine·Hiroshi WatanabeBjörn C Knollmann
Apr 23, 2009·Proceedings of the National Academy of Sciences of the United States of America·Nagesh ChopraBjörn C Knollmann
Oct 22, 2009·The Journal of Biological Chemistry·Sarah OddouxIsabelle Marty
Oct 9, 2012·American Journal of Human Genetics·Mette NyegaardAnders D Børglum
May 21, 2013·Journal of the American College of Cardiology·Peter J SchwartzArthur A M Wilde
Oct 3, 2014·Molecular Pharmacology·D MehraD R Laver
Feb 5, 2015·Circulation Research·Mark L BannisterAlan J Williams
Jul 23, 2015·Journal of Cardiovascular Electrophysiology·Caroline RooryckJean-Benoit Thambo

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Citations

Jan 17, 2019·Circulation. Genomic and Precision Medicine·Daniel J ClemensMichael J Ackerman
Feb 17, 2017·Neurology·Andrew G EngelDuygu Selcen
Dec 3, 2016·Journal of Neuromuscular Diseases·Isabelle Marty, Julien Fauré
Oct 15, 2019·Molecular Therapy : the Journal of the American Society of Gene Therapy·Marine CacheuxIsabelle Marty
Mar 12, 2021·Frontiers in Pediatrics·Georgia Sarquella-BrugadaOscar Campuzano

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