Author:
Sarquella-Brugada Georgia,Fernandez-Falgueras Anna,Cesar Sergi,Arbelo Elena,Jordà Paloma,García-Álvarez Ana,Cruzalegui Jose Carlos,Merchan Erika Fernanda,Fiol Victoria,Brugada Josep,Brugada Ramon,Campuzano Oscar
Abstract
Aim: To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics.Methods: Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is caused by rare variants in the TRDN gene. Malignant ventricular arrhythmias and sudden cardiac death can be a primary manifestation of disease. Although pharmacological measures are effective, some patients require an implantable defibrillator due to high risk of arrhythmogenic episodes.Main Results: Fourteen rare genetic alterations in TRDN have been reported to date. All of these potentially pathogenic alterations are located in a specific area of TRDN, highlighting this hot spot as an arrhythmogenic gene region.Conclusions: Early recognition and comprehensive interpretation of alterations in Triadin are crucial to adopt preventive measures and avoid malignant arrhythmogenic episodes in pediatric population.
Funder
“la Caixa” Foundation
Instituto de Salud Carlos III
Subject
Pediatrics, Perinatology, and Child Health
Reference19 articles.
1. Human skeletal muscle triadin: gene organization and cloning of the major isoform, Trisk 51;Thevenon;Biochem. Biophys. Res. Commun.,2003
2. Triadins modulate intracellular Ca(2+) homeostasis but are not essential for excitation-contraction coupling in skeletal muscle;Shen;J. Biol. Chem.,2007
3. Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias;Chopra;Proc. Natl. Acad. Sci. U.S.A.,2009
4. Triadin deletion induces impaired skeletal muscle function;Oddoux;J. Biol. Chem.,2009
5. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human;Roux-Buisson;Hum. Mol. Genet.,2012
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