Department of Cardiology, Kanagawa Children's Medical Center, Yokohama, Japan.
Cardiol Young. 2022 Jul;32(7):1175-1177. doi: 10.1017/S1047951121004674. Epub 2021 Nov 25.
Emery-Dreifuss muscular dystrophy is a slowly progressive skeletal muscle and joint disorder associated with cardiac complications. Dilated cardiomyopathy was the initial manifestation of Emery-Dreifuss muscular dystrophy in an 8-year-old girl. Despite normal muscle and myocardial biopsies, genetic testing revealed mutations. As Emery-Dreifuss muscular dystrophy is associated with minimal skeletal muscle weakness, cardiac complications can facilitate its diagnosis.
先天性肌营养不良伴扩张型心肌病是一种进行性缓慢的骨骼肌肉和关节疾病，常伴有心脏并发症。一名 8 岁女孩以扩张型心肌病为首发表现的先天性肌营养不良，尽管肌肉和心肌活检正常，但基因检测发现 基因突变。由于先天性肌营养不良的骨骼肌肉无力很轻微，心脏并发症有助于其诊断。
