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

• Published in: Arquivos brasileiros de cardiologia Vol. 108; no. 1; pp. 70 - 73
• Main Authors: 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
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Sociedade Brasileira de Cardiologia - SBC 01-01-2017; Sociedade Brasileira de Cardiologia (SBC)
• Subjects: Arritmias Cardíacas; Atrial Flutter - genetics; Atrial Flutter - physiopathology; Brief Communication; Brugada Syndrome - genetics; Brugada Syndrome - physiopathology; CARDIAC & CARDIOVASCULAR SYSTEMS; Child, Preschool; Electrocardiography; Genetic Predisposition to Disease; Hereditariedade; Heterozygote; Humans; Male; Mutation; NAV1.5 Voltage-Gated Sodium Channel - genetics; Nó Sinoatrial / anormalidades; Pedigree; Phenotype; Severity of Illness Index; Síndrome de Brugada; Testes Genéticos; Testes Genéticos; Genetic Testing; Nó Sinoatrial / anormalidades; Sinoatrial Node / abnormalities; Hereditariedade; Arrhythmias, Cardiac; Heredity; Síndrome de Brugada; Brugada Syndrome; Arritmias Cardíacas
• ISSN: 0066-782X; 1678-4170; 1678-4170
• DOI: 10.5935/abc.20170006

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.