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Title: Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population
Author: Martínez Barrios, Estefanía
Cesar, Sergi
Cruzalegui, José
Hernández Cera, Clara
Arbelo, Elena
Fiol, Victoria
Brugada, Ramon
Brugada Terradellas, Josep, 1958-
Campuzano, Òscar
Sarquella Brugada, Georgia
Keywords: Arrítmia
Issue Date: 5-Jan-2022
Publisher: MDPI
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Biomedicines, 2022, vol. 10, num. 1
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ISSN: 2227-9059
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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