在Brugada综合征的医疗决策过程中加入运动测试作为工具

Q4 Medicine
L. Mastrocola, Fábio Mastrocola
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引用次数: 0

摘要

约占所有心脏性猝死(SCDs)的4%,占心脏结构正常个体中所有SCDs的近20%。目前,钠通道蛋白V型亚单位α基因(SCN5A)是与BrS相关的主要基因,大约30%的所有记录病例可归因于该基因的350多个遗传变异之一。自首次描述与BrS相关的基因突变(1998年)以来,大约有40多个基因的500个零星突变被描述为可能与BrS相关。这些基因主要编码钠、钾、钙通道以及相关蛋白质。其他可能与BrS相关的基因的发现使临床评估中的遗传筛查成为可能。尽管如此,对所有可能的brs相关基因的广泛研究表明,在所有确诊病例中,只有不到40%的人出现了疾病突变;因此,在大多数家庭中,这种疾病的遗传起源仍未被发现。11
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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
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CiteScore
1.00
自引率
0.00%
发文量
68
审稿时长
24 weeks
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