Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? / Heterozigose Composta no Gene SCN5A em Criança - Há Associação com Gravidade da Doença?
Arq. bras. cardiol
;
108(1): 70-73, Jan. 2017. graf
Article
in English
| LILACS
| ID: biblio-1038528
ABSTRACT
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.
RESUMO
Resumo A heterozigose composta é descrita em arritmias hereditárias, geralmente associada a um fenótipo mais grave. Relatos dessa ocorrência em pacientes com síndrome de Brugada ainda são raros. Neste estudo, descrevemos o caso de uma criança com a combinação de duas novas variantes distintas no gene SCN5A, apresentando disfunção do nó sinusal, flutter e fibrilação atrial, intervalo HV prolongado, padrão tipo 1 espontâneo de Brugada na idade pré-puberal e história familiar de morte súbita.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Atrial Flutter
/
Brugada Syndrome
/
NAV1.5 Voltage-Gated Sodium Channel
/
Mutation
Type of study:
Prognostic study
/
Risk factors
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
Arq. bras. cardiol
Journal subject:
Cardiology
Year:
2017
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR
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