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

​
​ ​ ​ ​
Sarquella Brugada, Geòrgia
​ ​ ​ ​
Fernández-Falgueras, Anna
​ ​ ​ ​
Cesar, Sergi
​ ​ ​ ​
Arbelo, Elena
​ ​ ​ ​
Jordà, Paloma
​ ​ ​ ​
García Álvarez, Ana
​ ​ ​ ​
Cruzalegui, José
​ ​ ​ ​
Merchan, Erika Fernanda
​ ​ ​ ​
Fiol, Victoria
​ ​ ​ ​
Brugada Terradellas, Josep
orcId Brugada, Ramon​ ​ scopusId Brugada, Ramon​ ​
Brugada, Ramon
orcId Campuzano Larrea, Oscar​ researcherId Campuzano Larrea, Oscar​ scopusId Campuzano Larrea, Oscar​ ​
Campuzano Larrea, Oscar
Text Complet
PediatricMalignant.pdf 573.5  Kb | PDF ​
​
Compartir
​
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 ​
Aquest document està subjecte a una llicència Creative Commons:Reconeixement (by) Creative Commons by4.0
Mostra el registre complet de l'element