Latham Gregory J, Lopez Grace
Department of Anesthesiology and Pain Medicine, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.
Paediatr Anaesth. 2015 Mar;25(3):231-8. doi: 10.1111/pan.12516. Epub 2014 Sep 12.
Myofibrillar myopathy (MFM) is a relatively newly recognized genetic disease that leads to progressive muscle deterioration. MFM has a varied phenotypic presentation and impacts cardiac, skeletal, and smooth muscles. Affected individuals are at increased risk of respiratory failure, significant cardiac conduction abnormalities, cardiomyopathy, and sudden cardiac death. In addition, significant skeletal muscle involvement is common, which may lead to contractures, respiratory insufficiency, and airway compromise as the disease progresses. This study is the first report of anesthetic management of a patient with MFM. We report multiple anesthetic encounters of a child with genetically confirmed BAG3-myopathy, a subtype of MFM with severe childhood disease onset. A review of the anesthetic implications of the disease is provided, with specific exploration of possible susceptibility to malignant hyperthermia, rhabdomyolysis, and sensitivity to other anesthetic agents.
肌原纤维肌病(MFM)是一种相对较新发现的遗传性疾病,会导致进行性肌肉退化。MFM有多种表型表现,会影响心脏、骨骼和平滑肌。受影响的个体发生呼吸衰竭、严重心脏传导异常、心肌病和心源性猝死的风险增加。此外,随着疾病进展,显著的骨骼肌受累很常见,这可能导致挛缩、呼吸功能不全和气道受压。本研究是关于MFM患者麻醉管理的首例报告。我们报告了一名经基因确诊为BAG3 - 肌病(MFM的一种亚型,儿童期起病严重)患儿的多次麻醉经历。本文对该疾病的麻醉影响进行了综述,并特别探讨了对恶性高热、横纹肌溶解的可能易感性以及对其他麻醉药物的敏感性。