Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
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.
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Luciana
L
Sacilotto
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Hindalis Ballesteros
HB
Epifanio
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Francisco Carlos da Costa
FC
Darrieux
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Fanny
F
Wulkan
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Theo Gremen Mimary
TG
Oliveira
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Denise Tessariol
DT
Hachul
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Alexandre da Costa
AD
Pereira
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Mauricio Ibrahim
MI
Scanavacca
D001282:Atrial Flutter / Q000235:genetics* / Q000503:physiopathology; D053840:Brugada Syndrome / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D004562:Electrocardiography; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human