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一例以严重失代偿性心力衰竭为表现的 McLeod 综合征。

A Case of McLeod's Syndrome Presenting with Severe Decompensated Heart Failure.

机构信息

Rochester General Hospital, Rochester, New York, US.

Houston Methodist DeBakey Heart & Vascular Center, Houston, Texas, US.

出版信息

Methodist Debakey Cardiovasc J. 2023 Sep 14;19(1):75-78. doi: 10.14797/mdcvj.1164. eCollection 2023.

Abstract

McLeod's syndrome (MLS) is an X-linked disorder caused by mutations in the XK gene with neurological manifestations as well as cardiomyopathy. This is a case of acute exacerbation of heart failure in a 44-year-old White male with a confirmed diagnosis of MLS, which was managed with guideline-directed medical therapy and placement of an implantable cardioverter defibrillator with recovery in ejection fraction.

摘要

麦克劳德综合征(MLS)是一种 X 连锁疾病,由 XK 基因突变引起,具有神经表现以及心肌病。这是一位 44 岁白人男性 MLS 确诊病例的心力衰竭急性加重,经指南指导的药物治疗和植入式心脏复律除颤器治疗后射血分数恢复。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff9c/10503528/7a1957249d79/mdcvj-19-1-1164-g1.jpg

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