A monthly publication of the Brazilian Society of Cardiology and considered the main channel for the promotion of Brazilian cardiovascular research.
ISSN 0066-782X
eISSN 1678-4170
Luciana Sacilotto, Hindalis Ballesteros Epifanio, Francisco Carlos da Costa Darrieux, Fanny Wulkan, Theo Gremen Mimary Oliveira, [...]
Luciana Sacilotto, Hindalis Ballesteros Epifanio, Francisco Carlos da Costa Darrieux, Fanny Wulkan, Theo Gremen Mimary Oliveira, [...]
DOI: 10.5935/abc.20170006
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 […]
Keywords: Arrhythmias, Cardiac; Brugada Syndrome; Genetic Testing; Heredity; Sinoatrial Node / abnormalities