Fishbein M C, Siegel R J, Thompson C E, Hopkins L C
Cedars-Sinai-UCLA Medical Center.
Ann Intern Med. 1993 Nov 1;119(9):900-5. doi: 10.7326/0003-4819-119-9-199311010-00006.
To report a sudden death in a female carrier of Emery-Dreifuss muscular dystrophy and to describe the cardiac abnormalities associated with this disease.
Case series.
University hospital.
A 45-year-old carrier who died suddenly and two affected men who also died of cardiac manifestations of Emery-Dreifuss muscular dystrophy.
Post-mortem gross pathologic and histopathologic study of the heart.
All three hearts showed a unique pattern of pathologic findings. Marked loss of atrial myocardium had occurred. Myocardium had been replaced by adipose and fibrous tissue. The conduction system showed no significant abnormalities. Varying degrees of interstitial and replacement fibrosis were present in the ventricular myocardium.
Emery-Dreifuss muscular dystrophy is associated with characteristic pathologic changes in the heart that can cause death in female carriers and affected men. Female carriers should be identified and evaluated because of the risk for sudden cardiac death.
报告1例埃默里-德赖富斯肌营养不良女性携带者的猝死病例，并描述与该疾病相关的心脏异常情况。
病例系列研究。
大学医院。
1名45岁猝死的携带者以及2名同样死于埃默里-德赖富斯肌营养不良心脏表现的男性患者。
心脏的尸检大体病理和组织病理学研究。
所有3例心脏均呈现出独特的病理表现模式。心房心肌显著缺失，心肌已被脂肪和纤维组织取代。传导系统未显示明显异常。心室心肌存在不同程度的间质纤维化和替代性纤维化。
埃默里-德赖富斯肌营养不良与心脏特征性病理改变相关，可导致女性携带者和患病男性死亡。鉴于心源性猝死风险，应识别并评估女性携带者。
