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 Bridal Party Dresses 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 Conductivity Gels fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death.