title: Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
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.
authors.affiliation: Bristol Royal Hospital for Children, Bristol, UK.|Bristol Heart Institute, Bristol, UK.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Walsh
authors.affiliation: Bristol Royal Hospital for Children, Bristol, UK.|Bristol Heart Institute, Bristol, UK.
authors.forename: Alan G
authors.initials: AG
authors.lastname: Stuart
authors.affiliation: Genomic Diagnostics laboratory, Manchester Centre for Genomic Medicine, Manchester, UK.
authors.forename: Helene B
authors.initials: HB
authors.lastname: Schlecht
authors.affiliation: School of Physiology and Pharmacology, Cardiovascular Research Laboratories, University of Bristol, Bristol, UK.
authors.forename: Andrew F
authors.initials: AF
authors.lastname: James
authors.affiliation: School of Physiology and Pharmacology, Cardiovascular Research Laboratories, University of Bristol, Bristol, UK.
authors.forename: Jules C
authors.initials: JC
authors.lastname: Hancox
authors.affiliation: Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.
authors.forename: Ruth A
authors.initials: RA
authors.lastname: Newbury-Ecob
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006323:Heart Arrest / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D002352:Carrier Proteins; D009124:Muscle Proteins; C498269:TRDN protein, human
keywords: CPVT; cardiac arrest; pediatrics; triadin; ventricular fibrillation