Article
Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
Pacing and clinical electrophysiology : PACE - 1 May 2016
Walsh Mark A, Stuart Alan G, Schlecht Helene B, James Andrew F, Hancox Jules C, Newbury-Ecob Ruth A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
