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?

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.

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Bibliographic Details
Main Authors: Sacilotto,Luciana, Epifanio,Hindalis Ballesteros, Darrieux,Francisco Carlos da Costa, Wulkan,Fanny, Oliveira,Theo Gremen Mimary, Hachul,Denise Tessariol, Pereira,Alexandre da Costa, Scanavacca,Mauricio Ibrahim
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Cardiologia - SBC 2017
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000100070
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