title: In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation.
abstract: 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.
authors.affiliation: Department of Anaesthesia and Critical Care, University of Wuerzburg, 97080 Wuerzburg, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Schuster
authors.forename: Carsten
authors.initials: C
authors.lastname: Wessig
authors.forename: Christoph
authors.initials: C
authors.lastname: Schimmer
authors.forename: Stephan
authors.initials: S
authors.lastname: Johannsen
authors.forename: Marc
authors.initials: M
authors.lastname: Lazarus
authors.forename: Ivan
authors.initials: I
authors.lastname: Aleksic
authors.forename: Rainer
authors.initials: R
authors.lastname: Leyh
authors.forename: Norbert
authors.initials: N
authors.lastname: Roewer