Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.

ABSTRACT: Deleterious variants in SCN5A lead to a wide clinical spectrum that includes pathologies characterized by life-threatening cardiac events (CEs). In the pediatric population, early identification, management, and risk stratification of these pathologies are the main current challenges. This study analyzed a Spanish pediatric cohort (≤18 years) carrying rare SCN5A variants to explore genotype-phenotype correlations. A retrospective descriptive cohort study, including clinical, demographic, and genetic data of probands and their relatives, was conducted. Out of 100 children studied, 69 had definitively deleterious SCN5A variants (26 females, 38%; median age: 3 years, IQR 1-12). The main diagnoses were isolated Brugada syndrome (BrS) (31; 45%); isolated long QT syndrome ty

SUBMITTER: Martinez-Barrios E 

PROVIDER: S-EPMC12842284 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature