Arq. Bras. Cardiol. 2017; 108(1): 70-73
Compound Heterozygous SCN5A Mutations in a Toddler – Are they Associated with a More Severe Phenotype?
DOI: 10.5935/abc.20170006
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.
Compound Heterozygous SCN5A Mutations in a Toddler – Are they
Associated with a More Severe Phenotype?
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