Frontiers in Pediatrics (Feb 2021)

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

  • Georgia Sarquella-Brugada,
  • Georgia Sarquella-Brugada,
  • Anna Fernandez-Falgueras,
  • Sergi Cesar,
  • Elena Arbelo,
  • Elena Arbelo,
  • Paloma Jordà,
  • Paloma Jordà,
  • Ana García-Álvarez,
  • Ana García-Álvarez,
  • Jose Carlos Cruzalegui,
  • Erika Fernanda Merchan,
  • Victoria Fiol,
  • Josep Brugada,
  • Josep Brugada,
  • Josep Brugada,
  • Ramon Brugada,
  • Ramon Brugada,
  • Ramon Brugada,
  • Ramon Brugada,
  • Oscar Campuzano,
  • Oscar Campuzano,
  • Oscar Campuzano

DOI
https://doi.org/10.3389/fped.2020.601708
Journal volume & issue
Vol. 8

Abstract

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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.

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