Cardiac Rehabilitation in a Transplanted Person with Emery-Dreifuss Muscular Dystrophy

Abstract Emery-Dreifuss muscular dystrophy is a rare hereditary neuromuscular disease. Its manifestations begin primarily in childhood. The most frequent manifestations are progressive muscle weakness, atrophy that usually begins in the scapula-vertebral region, extending later to the pelvic girdle, and spinal stiffness. Patients can also manifest cardiac involvement as palpitations, syncope, exercise intolerance, congestive heart failure, and variable heart rhythm disturbances.1 - 3 The presence and severity of these manifestations can vary according to the individual and the disease’s subtypes. 2 Cardiac involvement is the most worrisome feature of this disease, and there are some reports of the need for heart transplantation in this dystrophy. 4

摘要 埃默里-德里福斯肌营养不良症（Emery-Dreifuss muscular dystrophy）是一种罕见的遗传性神经肌肉疾病，其症状多始发于儿童时期。最常见的临床表现为进行性肌无力、通常始于肩胛-脊椎区域的肌萎缩，后续可蔓延至骨盆带，以及脊柱僵硬。患者还可出现心脏受累相关症状，包括心悸、晕厥、运动耐量下降、充血性心力衰竭及多种心律失常[1-3]。此类临床表现的存在与否与严重程度可因个体及疾病亚型而异[2]。心脏受累是该疾病最令人担忧的特征，亦有报道指出此类肌营养不良患者需接受心脏移植[4]。