title: Anesthetic considerations in myofibrillar myopathy.
abstract: 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.
authors.affiliation: Department of Anesthesiology and Pain Medicine, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Latham
authors.forename: Grace
authors.initials: G
authors.lastname: Lopez
mesh_terms: D000758:Anesthesia; D000777:Anesthetics; D006801:Humans; D007223:Infant; D008297:Male; D008305:Malignant Hyperthermia / Q000628:therapy; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D009210:Myofibrils / Q000473:pathology*; D012206:Rhabdomyolysis / Q000628:therapy
chemical_list: D000777:Anesthetics
keywords: anesthesia; cardiac arrhythmia; cardiomyopathy; desmin-related myopathy; malignant hyperthermia; myofibrillar myopathy; neuromuscular disease; pediatric; rhabdomyolysis