Ishikawa Kiyotake, Mimuro Maya, Tanaka Toshikazu
Department of Cardiology, Okazaki City Hospital, Japan.
Intern Med. 2011;50(5):459-62. doi: 10.2169/internalmedicine.50.4598. Epub 2011 Mar 1.
Emery-Dreifuss muscular dystrophy (EDMD) is a distinctive form of muscular dystrophy which is often associated with cardiac abnormalities. Conduction disturbances are frequently observed, and may necessitate pacemaker implantation to prevent sudden death. In this case report, we present an autopsy of a 31-year-old man with X-linked EDMD who developed only minimal skeletal muscle symptoms, and who died from ventricular arrhythmia despite undergoing a previous pacemaker implantation. Ventricular arrhythmias in X-linked EDMD patients are also discussed.
埃默里-德赖富斯肌营养不良症（EDMD）是一种特殊类型的肌营养不良症，常伴有心脏异常。经常观察到传导障碍，可能需要植入起搏器以预防猝死。在本病例报告中，我们展示了一名31岁患有X连锁EDMD男性的尸检情况，该患者仅出现轻微骨骼肌症状，尽管之前已植入起搏器，但仍死于室性心律失常。文中还讨论了X连锁EDMD患者的室性心律失常。
