Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
oleh: 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 |
|---|---|
| Diterbitkan: | Sociedade Brasileira de Cardiologia (SBC) |
Deskripsi
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.