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 g...

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Bibliographic Details
Main Authors: Luciana Sacilotto, Hindalis Ballesteros Epifanio, Francisco Carlos da Costa Darrieux, Fanny Wulkan, Theo Gremen Mimary Oliveira, Denise Tessariol Hachul, Alexandre da Costa Pereira, Mauricio Ibrahim Scanavacca
Format: Article
Language:English
Published: Sociedade Brasileira de Cardiologia (SBC)
Series:Arquivos Brasileiros de Cardiologia
Subjects:
Síndrome de Brugada
Nó Sinoatrial / anormalidades
Arritmias Cardíacas
Testes Genéticos
Hereditariedade
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000100070&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000100070&lng=en&tlng=en

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