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Brugada综合征最新进展。

Brugada syndrome update.

作者信息

Xu Tingting, Wang Shaokun, Wang Jiawen, Xing Jihong

机构信息

Department of Emergency Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.

Department of Nuclear Medicine, The First Hospital of Jilin University, Changchun, Jilin, China.

出版信息

Front Physiol. 2025 Jan 17;15:1520008. doi: 10.3389/fphys.2024.1520008. eCollection 2024.

DOI:10.3389/fphys.2024.1520008
PMID:39896197
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11782167/
Abstract

Brugada syndrome (BrS), a genetic disorder affecting cardiac ion channels, predominantly manifests due to mutations that impair the function of the Nav1.5 sodium channel's α-subunit. This condition, identified by Josep and Pedro Brugada, is often marked by symptoms such as syncope and episodes of polymorphic ventricular tachycardia (PVT) or ventricular fibrillation (VF). These arrhythmias, if not managed promptly, can escalate to sudden cardiac death (SCD), notably in patients whose cardiac structure appears normal. Given this, the prompt recognition and stratification of individuals at elevated risk are critical. This review elaborates on the current insights into BrS, focusing on recent diagnostic techniques, risk assessment strategies, and therapeutic advancements. It also critically examines ongoing controversies in the field.

摘要

布加综合征(BrS)是一种影响心脏离子通道的遗传性疾病,主要由损害Nav1.5钠通道α亚基功能的突变引起。这种疾病由何塞普(Josep)和佩德罗·布加(Pedro Brugada)发现,通常表现为晕厥以及多形性室性心动过速(PVT)或室颤(VF)发作等症状。这些心律失常如果不及时处理,可能会发展为心源性猝死(SCD),特别是在心脏结构看似正常的患者中。鉴于此,及时识别和分层高危个体至关重要。本综述阐述了目前对布加综合征的认识,重点关注近期的诊断技术、风险评估策略和治疗进展。它还对该领域目前存在的争议进行了批判性审视。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40b2/11782167/fe18b90c8cda/fphys-15-1520008-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40b2/11782167/fe18b90c8cda/fphys-15-1520008-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40b2/11782167/fe18b90c8cda/fphys-15-1520008-g001.jpg

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本文引用的文献

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NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.Brugada 综合征中的 NaV1.5 自身抗体:发病机制的影响。
Eur Heart J. 2024 Oct 21;45(40):4336-4348. doi: 10.1093/eurheartj/ehae480.
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Genetic Testing in Brugada Syndrome: A 30-Year Experience.遗传性心律失常综合征的基因检测:30 年的经验。
Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012374. doi: 10.1161/CIRCEP.123.012374. Epub 2024 Mar 1.
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Genetic and Molecular Mechanisms in Brugada Syndrome.Brugada 综合征的遗传和分子机制。
Cells. 2023 Jul 5;12(13):1791. doi: 10.3390/cells12131791.
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Brugada Syndrome: From Molecular Mechanisms and Genetics to Risk Stratification.Brugada 综合征:从分子机制和遗传学角度看风险分层。
Int J Mol Sci. 2023 Feb 7;24(4):3328. doi: 10.3390/ijms24043328.
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The Genetics of Brugada Syndrome.Brugada 综合征的遗传学。
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:255-274. doi: 10.1146/annurev-genom-112921-011200. Epub 2022 May 13.
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Brugada Syndrome: Warning of a Systemic Condition?布加综合征:一种全身性疾病的警示?
Front Cardiovasc Med. 2021 Oct 15;8:771349. doi: 10.3389/fcvm.2021.771349. eCollection 2021.
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Brugada syndrome: update and future perspectives.Brugada 综合征:更新与未来展望。
Heart. 2022 May;108(9):668-675. doi: 10.1136/heartjnl-2020-318258. Epub 2021 Oct 14.
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