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Illuminating the path from genetics to clinical outcome in Brugada syndrome.

作者信息

Postema Pieter G, Walsh Roddy, Bezzina Connie R

机构信息

Department of Clinical Cardiology, Amsterdam UMC, AMC Heart Center, Amsterdam, The Netherlands.

Department of Experimental Cardiology, Amsterdam UMC, AMC Heart Center, Amsterdam, The Netherlands.

出版信息

Eur Heart J. 2021 Mar 14;42(11):1091-1093. doi: 10.1093/eurheartj/ehaa994.

DOI:10.1093/eurheartj/ehaa994
PMID:33444429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7955964/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3793/7955964/5325e17d40ad/ehaa994f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3793/7955964/5325e17d40ad/ehaa994f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3793/7955964/5325e17d40ad/ehaa994f1.jpg

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本文引用的文献

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.通过对疾病联盟队列和人群对照进行定量分析，增强遗传性心律失常中的罕见变异解读。
Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7.
3
High-Throughput Reclassification of SCN5A Variants.
功能性心外膜传导障碍与 Brugada 综合征相关的 SCN5A 变异体。
JACC Clin Electrophysiol. 2023 Aug;9(8 Pt 1):1248-1261. doi: 10.1016/j.jacep.2023.03.009. Epub 2023 May 24.
4
The year in cardiovascular medicine 2021: arrhythmias.2021年心血管医学领域：心律失常
Eur Heart J. 2022 Mar 21;43(12):1191-1197. doi: 10.1093/eurheartj/ehac007.
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Front Cardiovasc Med. 2021 Dec 23;8:782596. doi: 10.3389/fcvm.2021.782596. eCollection 2021.
高通量 SCN5A 变异体再分类。
Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12.
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Catheter ablation in highly symptomatic Brugada patients: a Dutch case series.高度有症状 Brugada 患者的导管消融术：荷兰病例系列。
Clin Res Cardiol. 2020 May;109(5):560-569. doi: 10.1007/s00392-019-01540-9. Epub 2019 Sep 2.
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