title: Brugada syndrome in a family with a high mortality rate: a case report.
abstract: BACKGROUND
  Brugada syndrome is a hereditary arrhythmia characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene are estimated to account for approximately 28% of Brugada syndrome probands.
  
  
  METHODS
  We report the case of a 32-year-old mixed-race Brazilian man who is sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene mutation-negative with a type 1 Brugada electrocardiographic pattern and a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first case of a patient who has Brugada syndrome and a history of sudden death in four first-degree family members. This case report reinforces the evidence that genetic studies are of limited use while determining risk but remain helpful for diagnosis, and that diagnosis via electrocardiography is of great importance in preventing adverse events and stratifying risk. Although there are several technologically advanced diagnostic tools, they might not be accessible in small towns and hospitals; however, a basic diagnostic tool like electrocardiography is easily accessible.
authors.affiliation: Genetics and Molecular Biology Laboratory, Federal University of Piauí, Av, São Sebastião 2819, Parnaíba, PI 64202-020, Brazil. marcoscardio@hotmail.com.
authors.forename: Marcos Aurélio Lima
authors.initials: MA
authors.lastname: Barros
authors.forename: Hygor Ferreira
authors.initials: HF
authors.lastname: Fernandes
authors.forename: Cassandra Mirtes Andrade Rego
authors.initials: CM
authors.lastname: Barros
authors.forename: Fábio José Nascimento
authors.initials: FJ
authors.lastname: Motta
authors.forename: Renata
authors.initials: R
authors.lastname: Canalle
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Rey
authors.forename: Rommel Rodríguez
authors.initials: RR
authors.lastname: Burbano
authors.forename: France Keiko Nascimento
authors.initials: FK
authors.lastname: Yoshioka
authors.forename: Giovanny Rebouças
authors.initials: GR
authors.lastname: Pinto