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

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

doi:10.5935/abc.20170006

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

Arq Bras Cardiol. 2017 Jan;108(1):70-73. doi: 10.5935/abc.20170006.

[Article in Portuguese, English]

Authors

Luciana Sacilotto¹, Hindalis Ballesteros Epifanio¹, Francisco Carlos da Costa Darrieux¹, Fanny Wulkan¹, Theo Gremen Mimary Oliveira¹, Denise Tessariol Hachul¹, Alexandre da Costa Pereira¹, Mauricio Ibrahim Scanavacca¹

Affiliation

¹ Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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.

Publication types

Case Reports

MeSH terms

Atrial Flutter / genetics*
Atrial Flutter / physiopathology
Brugada Syndrome / genetics*
Brugada Syndrome / physiopathology
Child, Preschool
Electrocardiography
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Mutation*
NAV1.5 Voltage-Gated Sodium Channel / genetics*
Pedigree
Phenotype
Severity of Illness Index

Substances

NAV1.5 Voltage-Gated Sodium Channel
SCN5A protein, human