作者: Marcos Aurélio Lima Barros , Hygor Ferreira Fernandes , Cassandra Mirtes Andrade Rego Barros , Fábio José Nascimento Motta , Renata Canalle
关键词: Sudden death 、 Disease 、 Proband 、 Sudden cardiac death 、 Electrocardiography 、 Brugada syndrome 、 Medicine 、 Pediatrics 、 Adverse effect 、 Mortality rate
摘要: Brugada syndrome is a hereditary arrhythmia characterized by specific electrocardiographic pattern and an increased risk of sudden cardiac death, with apparent absence structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene glycerol-3-phosphate dehydrogenase 1-like are estimated to account for approximately 28% probands. We report case 32-year-old mixed-race Brazilian man who mutation-negative 1 history high family mortality, including five deaths among relatives whom four were first-degree relatives. best our knowledge, this first patient has death members. This reinforces evidence that genetic studies limited use while determining but remain helpful diagnosis, diagnosis via electrocardiography great importance preventing adverse events stratifying risk. Although there several technologically advanced diagnostic tools, they might not be accessible small towns hospitals; however, basic tool like easily accessible.