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

Arquivos brasileiros de cardiologia - 1 Jan 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28146213
DOI: 10.5935/abc.20170006
PMCID: PMC5245850

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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