一名患有心脏钠通道Na1.5新型功能丧失变异的患者出现应激性心肌病和Brugada综合征。 - Suppr

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超能文献

Takotsubo cardiomyopathy and Brugada syndrome in a patient with a novel loss-of-function variant in the cardiac sodium channel Na1.5.

作者信息

Frederiksen Tanja Charlotte, Calloe Kirstine, Geryk Michelle, Jensen Henrik Kjærulf

机构信息

Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.

Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

出版信息

HeartRhythm Case Rep. 2022 Feb 4;8(5):325-329. doi: 10.1016/j.hrcr.2022.01.017. eCollection 2022 May.

DOI:10.1016/j.hrcr.2022.01.017

PMID:35607336

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9123313/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/a4dac4523a33/gr1.jpg

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Cardiovasc Revasc Med. 2019 Feb;20(2):153-166. doi: 10.1016/j.carrev.2018.11.016. Epub 2018 Nov 17.

Takotsubo syndrome: State-of-the-art review by an expert panel - Part 1.应激性心肌病：专家小组的最新综述 - 第1部分。

Cardiovasc Revasc Med. 2019 Jan;20(1):70-79. doi: 10.1016/j.carrev.2018.11.015. Epub 2018 Nov 17.

Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Na1.5 gain-of-function mutation (G213D).由 Na1.5 功能获得性突变（G213D）引起的多发性房性和室性早搏，伴有扩张型心肌病风险增加。

Int J Cardiol. 2018 Apr 15;257:160-167. doi: 10.1016/j.ijcard.2017.11.095.

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Int J Cardiol. 2017 Jun 1;236:335-339. doi: 10.1016/j.ijcard.2017.01.093. Epub 2017 Jan 15.

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