Compound heterozygous SCN5A mutations in a toddler are associated with a severe phenotype including early-onset Brugada syndrome and multiple arrhythmias.
Case of compound SCN5A heterozygosity shows severe pediatric arrhythmias; extends rare reports but leaves genotype-phenotype correlations open.
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.
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Sacilotto et al. (2017) studied this question.
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