Schuster Frank, Wessig Carsten, Schimmer Christoph, Johannsen Stephan, Lazarus Marc, Aleksic Ivan, Leyh Rainer, Roewer Norbert
Department of Anaesthesia and Critical Care, University of Wuerzburg, 97080 Wuerzburg, Germany.
Case Rep Anesthesiol. 2012;2012:349046. doi: 10.1155/2012/349046. Epub 2012 Sep 3.
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary neuromuscular disorder characterized by slowly progressive muscle weakness, early contractures, and dilated cardiomyopathy. We reported an uneventful general anaesthesia using total intravenous anaesthesia (TIVA) for cardiac transplantation in a 19-year-old woman suffering from EDMD. In vitro contracture test results of two pectoralis major muscle bundles of the patient suggest that exposition to triggering agents does not induce a pathological sarcoplasmic calcium release in the lamin A/C phenotype. However, due to the lack of evidence in the literature, we would recommend TIVA for patients with EDMD if general anaesthesia is required.
埃默里-德赖富斯肌营养不良症（EDMD）是一种遗传性神经肌肉疾病，其特征为缓慢进展的肌肉无力、早期挛缩和扩张型心肌病。我们报告了一例对一名患有EDMD的19岁女性进行心脏移植时，使用全静脉麻醉（TIVA）实施的平稳全身麻醉。该患者两块胸大肌束的体外挛缩试验结果表明，暴露于触发剂不会在核纤层蛋白A/C表型中诱导病理性肌浆钙释放。然而，由于文献中缺乏证据，如果需要全身麻醉，我们建议对EDMD患者使用TIVA。
