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 

TITLE=Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation

JOURNAL=Frontiers in Pediatrics

VOLUME=8

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.601708

DOI=10.3389/fped.2020.601708

ISSN=2296-2360

ABSTRACT=<p><bold>Aim:</bold> To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics.</p><p><bold>Methods:</bold> Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is caused by rare variants in the <italic>TRDN</italic> 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.</p><p><bold>Main Results:</bold> Fourteen rare genetic alterations in <italic>TRDN</italic> have been reported to date. All of these potentially pathogenic alterations are located in a specific area of <italic>TRDN</italic>, highlighting this hot spot as an arrhythmogenic gene region.</p><p><bold>Conclusions:</bold> Early recognition and comprehensive interpretation of alterations in Triadin are crucial to adopt preventive measures and avoid malignant arrhythmogenic episodes in pediatric population.</p>