左显性心律失常性心肌病自然史的病例说明

IF 1.3 Q2 MEDICINE, GENERAL & INTERNAL
Corry B. Sanford, Jerry Fan, Yinan Hua, Lazaros Nikolaidis, Whitney Edmister, Sarah Payne, Hari Dandapantula, Manik Veer, Vinh Nguyen
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引用次数: 0

摘要

背景:心律失常性左心室心肌病是复发性心肌炎的一个日益被认识的原因,是急性冠状动脉综合征的模仿,也是恶性室性心律失常和心力衰竭的一个重要原因。Desmoplakin是一种维持心肌结构完整性的关键蛋白。桥蛋白的破坏导致纤维脂肪浸润心肌,从而导致充血性心力衰竭、心律失常和心源性猝死。然而,desmoplakin心肌病经常被误诊,导致显著的发病率和死亡率。我们报告2例对比的病例,说明了心律失常性左心室心肌病的自然史-热期和冷期。病例系列:第一个病例显示了一种常见的桥状血小板性心肌病的表型表现,表现为复发性心肌炎和心肌损伤,代表热期。第二个病例是慢性收缩期心力衰竭和室性心律失常的波动过程,代表冷期。结论:心律失常性心肌病表现为一系列累及右、左或双心室的疾病过程。desmoplakin基因突变常与左显性室性心肌病有关。诊断仍然很困难,因为这种疾病没有明显的临床表现,影像学表现也不稳定。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case Illustration of the Natural History of Left Dominant Arrhythmogenic Cardiomyopathy

Background: Arrhythmogenic left ventricular cardiomyopathy is an increasingly recognized cause of recurrent myocarditis, a mimicker of acute coronary syndrome, and an important cause of malignant ventricular arrythmias and heart failure. Desmoplakin is a protein that is critical to maintaining the structural integrity of the myocardium. Disruption of desmoplakin leads to fibrofatty infiltration of the myocardium which leads to congestive heart failure, cardiac arrhythmias, and sudden cardiac death. However, desmoplakin cardiomyopathy is often misdiagnosed, resulting in significant morbidity and mortality. We report 2 contrasting cases illustrating the natural history—hot and cold phases—of arrhythmogenic left ventricular cardiomyopathy. Case Series: The first case demonstrates a common phenotypic presentation of desmoplakin cardiomyopathy manifested as recurrent myocarditis and myocardial injury representing the hot phase. The second case is an undulating course of chronic systolic heart failure and ventricular arrhythmias representing the cold phase. Conclusion: Arrhythmogenic cardiomyopathy manifests as a spectrum of disease processes that involve the right, left, or both ventricles. Mutations in the desmoplakin gene are often associated with a left dominant ventricular cardiomyopathy. Diagnosis remains difficult as the condition has no signature clinical presentation, and imaging findings are variable.
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来源期刊
Ochsner Journal
Ochsner Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
自引率
0.00%
发文量
71
审稿时长
24 weeks
期刊介绍: The Ochsner Journal is a quarterly publication designed to support Ochsner"s mission to improve the health of our community through a commitment to innovation in healthcare, medical research, and education. The Ochsner Journal provides an active dialogue on practice standards in today"s changing healthcare environment. Emphasis will be given to topics of great societal and medical significance.
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