title: [Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator].
abstract: The patient was a 53-year-old male. He showed steppage gait at the age of 11 and equinus foot at 13. He walked unaided with shoe-insoles to support his heels. Atrial fibrillation and cardiac hypertrophy were found in his 30s, and ventricular tachycardia (VT) was observed at the age of 48. Electrophysiological studies were performed, but VT was not sustained, symptomatic, or showed signs of infra-Hisian block, and a pacemaker was not indicated. At 53, he was introduced to a neurologist because of tetraplegia after the first episode of syncope. A spinal MR showed ossification of posterior longitudinal ligament (OPLL) and central cervical cord injury. Furthermore, he presented not only contracture in his shoulder, elbow, and ankles but also atrophy in his scapulohumeral and gastrocnemius muscles. In accordance with a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD), provocative testing of VT was carried out, and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted. Later, a mutation analysis of the LMNA gene disclosed a known missense mutation of p.Arg377His, and we diagnosed him as EDMD2 (laminopathy). Contractures could be the clue to diagnose EDMD and indicate the need for pacemakers and defibrillators in patients with cardiac conduction disorders.
authors.affiliation: Department of Neurology, Jichi Medical University, Saitama Medical Center.
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: Eri
authors.initials: E
authors.lastname: Watanabe
authors.forename: Mieko
authors.initials: M
authors.lastname: Otsuka
authors.forename: Taishi
authors.initials: T
authors.lastname: Hirahara
authors.forename: Shinichi
authors.initials: S
authors.lastname: Momomura
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hayashi
mesh_terms: D058406:Cardiac Resynchronization Therapy / Q000379:methods*; D058409:Cardiac Resynchronization Therapy Devices; D017147:Defibrillators, Implantable; D003937:Diagnosis, Differential; D005260:Female; D006329:Heart Conduction System; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009154:Mutation; D017887:Ossification of Posterior Longitudinal Ligament / Q000175:diagnosis; D010375:Pedigree; D013575:Syncope / Q000209:etiology; D017180:Tachycardia, Ventricular / Q000209:etiology / Q000628:therapy*; D013997:Time Factors
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A