2026-04-17T21:29:14Zhttps://recercat.cat/oai/request

oai:recercat.cat:10256/212912024-05-21T10:38:24Zcom_2072_452955com_2072_2054col_2072_452960

00925njm 22002777a 4500 dc Martínez-Barrios, Estefanía author Cesar, Sergi author Cruzalegui, José author Hernández Cera, Clara author Arbelo, Elena author Fiol, Victoria author Brugada Terradellas, Josep author Brugada, Ramon author Campuzano Larrea, Oscar author Sarquella Brugada, Geòrgia author 2022-01-05 Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive cause in 40–50% of cases. In such cases, a diagnosis of sudden arrhythmic death syndrome is suggested as the main potential cause of death. Molecular autopsy identifies nearly 30% of cases under 16 years of age carrying a pathogenic/potentially pathogenic alteration in genes associated with any inherited arrhythmogenic disease. In the last few years, despite the increasing rate of post-mortem genetic diagnosis, many families still remain without a conclusive genetic cause of the unexpected death. Current challenges in genetic diagnosis are the establishment of a correct genotype–phenotype association between genes and inherited arrhythmogenic disease, as well as the classification of variants of uncertain significance. In this review, we provide an update on the state of the art in the genetic diagnosis of inherited arrhythmogenic disease in the pediatric population. We focus on emerging publications on gene curation for genotype–phenotype associations, cases of genetic overlap and advances in the classification of variants of uncertain significance. Our goal is to facilitate the translation of genetic diagnosis to the clinical area, helping risk stratification, treatment and the genetic counselling of families This work was supported by Obra Social “La Caixa Foundation” (LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002) http://hdl.handle.net/10256/21291 Genètica mèdica Medical genetics Arrítmia -- Aspectes genètics Arrhythmia -- Genetic aspects Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population