Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?

Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?

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Abstract Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype.Reports of this occurrence in S2 TROPICAL FRUIT 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 Perfumes 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.