Luciana Sacilotto et al. Hindalis Ballesteros Epifanio Francisco Carlos da Costa Darrieux Fanny Wulkan … Theo Gremen Mimary Oliveira Denise Tessariol Hachul Alexandre da Costa Pereira Mauricio Ibrahim Scanavacca
Abstract
Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death.