一名出现室性心动过速的患者的心脏结节病及一种可能的致病变异
Cardiac Sarcoidosis and a Likely Pathogenic Variant in a Patient Presenting With Ventricular Tachycardia.
作者信息
Virk Zain M, Richardson T Lee, Nowatzke Joseph F, Ullah Asad, Pedrotty Dawn M, Shoemaker M Benjamin, Kanagasundram Arvindh, Roden Dan M, Stevenson William G
机构信息
Vanderbilt University Medical Center, Department of Medicine Division of Cardiology, Nashville, Tennessee, USA.
Vanderbilt University Medical Center, Department of Pathology, Nashville, Tennessee, USA.
出版信息
JACC Case Rep. 2023 May 17;16:101878. doi: 10.1016/j.jaccas.2023.101878. eCollection 2023 Jun 21.
Rare variants in are the most common monogenic cause of early-onset atrial fibrillation and dilated cardiomyopathy. Whereas cardiac sarcoidosis is very underdiagnosed, a common presentation can be ventricular arrhythmias. This report presents a patient with a likely pathogenic variant and cardiac sarcoidosis. ().
[基因名称]中的罕见变异是早发性心房颤动和扩张型心肌病最常见的单基因病因。尽管心脏结节病的诊断率很低，但常见的表现可能是室性心律失常。本报告介绍了一名携带可能致病的[基因名称]变异且患有心脏结节病的患者。（括号内容缺失未翻译）
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