Stevenson W G, Perloff J K, Weiss J N, Anderson T L
Department of Medicine, University of California-Los Angeles Center for the Health Sciences 90024-1679.
J Am Coll Cardiol. 1990 Feb;15(2):292-9. doi: 10.1016/s0735-1097(10)80052-x.
Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder with an incidence of 3 to 10 cases per million. The only type of cardiac involvement ascribed to this neuromuscular disorder is a unique form of heart disease--permanent atrial paralysis. However, reported cases of facioscapulohumeral muscular dystrophy probably represented instead what is now recognized as phenotypically similar Emery-Dreifuss dystrophy. Cardiac involvement, therefore, has not been convincingly reported in facioscapulohumeral muscular dystrophy, but because of the clinical similarity of that disorder to Emery-Dreifuss dystrophy and its genetic variants, a prospective investigation of the electrophysiologic properties of the atria and atrioventricular (AV) node and infranodal conduction was undertaken in 30 rigorously documented cases of facioscapulohumeral muscular dystrophy. All patients had a 12 lead surface electrocardiogram (ECG), 22 had a 24 h ambulatory ECG, 15 patients had two-dimensional echocardiographic/Doppler studies and 10 patients underwent 12 intracardiac electrophysiologic investigations. Left atrial, right atrial or biatrial P wave abnormalities were present in 60% of the surface ECGs. Evidence of abnormal AV node or infranodal conduction was present on intracardiac electrophysiologic study or surface ECG in 27% of patients. Atrial flutter or fibrillation was induced by single atrial extra stimuli in 10 of the 12 intracardiac electrophysiologic studies. Sinus node function was abnormal in three patients. This investigation provides the first secure evidence of cardiac involvement in facioscapulohumeral muscular dystrophy. The involvement is represented by relatively high susceptibility to induced atrial flutter or fibrillation during electrophysiologic study, together with less frequent evidence of abnormal sinus node function and abnormal AV node or infranodal conduction.(ABSTRACT TRUNCATED AT 250 WORDS)
面肩肱型肌营养不良是一种常染色体显性疾病，发病率为百万分之3至10例。这种神经肌肉疾病唯一的心脏受累类型是一种独特的心脏病形式——永久性心房麻痹。然而，报告的面肩肱型肌营养不良病例可能实际上代表了现在被认为在表型上相似的埃默里 - 德赖富斯肌营养不良。因此，面肩肱型肌营养不良患者的心脏受累情况尚无确凿报道，但由于该疾病与埃默里 - 德赖富斯肌营养不良及其基因变异在临床上相似，对30例严格记录的面肩肱型肌营养不良病例进行了心房和房室（AV）结及结下传导电生理特性的前瞻性研究。所有患者均进行了12导联体表心电图（ECG）检查，22例进行了24小时动态心电图检查，15例患者进行了二维超声心动图/多普勒研究，10例患者接受了12次心内电生理检查。60%的体表心电图出现左心房、右心房或双心房P波异常。27%的患者在心内电生理研究或体表心电图上有房室结或结下传导异常的证据。在12次心内电生理研究中的10次中，单次心房额外刺激可诱发心房扑动或颤动。3例患者窦房结功能异常。这项研究首次提供了面肩肱型肌营养不良患者心脏受累的确切证据。这种受累表现为在电生理研究中对诱发心房扑动或颤动的易感性相对较高，同时窦房结功能异常以及房室结或结下传导异常的证据较少。（摘要截取自250字）
