{"title":"在Brugada综合征的医疗决策过程中加入运动测试作为工具","authors":"L. Mastrocola, Fábio Mastrocola","doi":"10.36660/ijcs.20230053","DOIUrl":null,"url":null,"abstract":"responsible for approximately 4% of all sudden cardiac deaths (SCDs) and nearly 20% of all SCDs in individuals with structurally normal hearts. 8 Currently, the sodium channel protein type V subunit α gene (SCN5A) is the primary gene linked to BrS, and roughly 30% of all documented cases are imputable to one of the gene’s more than 350 genetic variants. 9 Since the first description of genetic mutation related to BrS (1998), around 500 sporadic mutations in more than 40 genes have been described as likely related to BrS. These genes mainly encode sodium, potassium, and calcium channels, as well as related proteins. 10 The discovery of additional genes that may be linked to BrS has enabled genetic screening in clinical assessment. Nonetheless, an extensive study of all probable BrS-associated genes has shown a disorder mutation in less than 40% of all confirmed cases; thus, the genetic origin of the condition remains undiscovered in most families. 11","PeriodicalId":32690,"journal":{"name":"International Journal of Cardiovascular Sciences","volume":"21 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Adding the Exercise Test as a Tool in the Medical Decision-Making Process in Brugada Syndrome\",\"authors\":\"L. Mastrocola, Fábio Mastrocola\",\"doi\":\"10.36660/ijcs.20230053\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"responsible for approximately 4% of all sudden cardiac deaths (SCDs) and nearly 20% of all SCDs in individuals with structurally normal hearts. 8 Currently, the sodium channel protein type V subunit α gene (SCN5A) is the primary gene linked to BrS, and roughly 30% of all documented cases are imputable to one of the gene’s more than 350 genetic variants. 9 Since the first description of genetic mutation related to BrS (1998), around 500 sporadic mutations in more than 40 genes have been described as likely related to BrS. These genes mainly encode sodium, potassium, and calcium channels, as well as related proteins. 10 The discovery of additional genes that may be linked to BrS has enabled genetic screening in clinical assessment. Nonetheless, an extensive study of all probable BrS-associated genes has shown a disorder mutation in less than 40% of all confirmed cases; thus, the genetic origin of the condition remains undiscovered in most families. 11\",\"PeriodicalId\":32690,\"journal\":{\"name\":\"International Journal of Cardiovascular Sciences\",\"volume\":\"21 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Cardiovascular Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36660/ijcs.20230053\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Cardiovascular Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36660/ijcs.20230053","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Adding the Exercise Test as a Tool in the Medical Decision-Making Process in Brugada Syndrome
responsible for approximately 4% of all sudden cardiac deaths (SCDs) and nearly 20% of all SCDs in individuals with structurally normal hearts. 8 Currently, the sodium channel protein type V subunit α gene (SCN5A) is the primary gene linked to BrS, and roughly 30% of all documented cases are imputable to one of the gene’s more than 350 genetic variants. 9 Since the first description of genetic mutation related to BrS (1998), around 500 sporadic mutations in more than 40 genes have been described as likely related to BrS. These genes mainly encode sodium, potassium, and calcium channels, as well as related proteins. 10 The discovery of additional genes that may be linked to BrS has enabled genetic screening in clinical assessment. Nonetheless, an extensive study of all probable BrS-associated genes has shown a disorder mutation in less than 40% of all confirmed cases; thus, the genetic origin of the condition remains undiscovered in most families. 11