In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation

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. 1. Introduction Emery-Dreifuss muscular dystrophy (EDMD), initially considered a benign form of Duchenne or Becker muscular dystrophy, is a hereditary neuromuscular disorder characterized by slowly progressive muscle weakness at the outset with humeroperoneal distribution and early contractures of elbow joints, Achilles tendons, and posterior-cervical muscles. EDMD either presents as an X-linked disorder due to a mutation in the emerin gene on chromosome Xq28 or as an autosomal dominant form, associated with an aberration of lamin A/C proteins on chromosome 1q11-23 [1]. Emerin and lamin A/C are located in the inner nuclear membrane of different cell types, including skeletal und cardiac muscle fibers. The incidence of autosomal dominant EDMD varies from 1 to 3？:？100.000, while the prevalence of the X-linked recessive form is assumed with 1 in 100.000 males [2]. Cardiac disease occurring by adulthood is a predominant feature of EDMD comprising conduction defects and arrhythmias. Implantation of a pacemaker is recommended if sinus or AV node disease develops [3, 4]. Heart transplantations due to dilated cardiomyopathy and heart failure are rare, but may increase as patients with a pacemaker or cardioverter/defibrillator may have longer survival [5]. 2. Case Report After obtaining written informed consent of a 19-year-old woman with a lamin A/C associated EDMD scheduled for high urgent cardiac transplantation we reviewed the specific anaesthetic management of this case and presented histological findings of skeletal and heart muscle and results of in vitro contracture-testing. Beside minor weakness of anterior cervical muscles and proximal upper limbs preoperative neurologic examination was unremarkable. After surviving a sudden cardiac arrest in 2005 an implantable cardioverter defibrillator (ICD) had been inserted. During the last 3 years, she had frequently been