Perrot A, Spuler S, Geier C, Dietz R, Osterziel K J
Charité, Universitätsmedizin Berlin, Kardiologie am Campus-Virchow-Klinikum und Campus Buch und Max-Delbrück-Centrum für Molekulare Medizin, Wiltbergstr. 50, 13125 Berlin, Germany.
Z Kardiol. 2005 May;94(5):312-20. doi: 10.1007/s00392-005-0232-3.
Muscular dystrophies (MD) are a clinically and genetically heterogeneous disease group. In the last few years, remarkable progress has been made in understanding the close und various relations between skeletal muscle disease and heart muscle disease. Cardiac involvement has been documented in a number of primary MDs and is even the dominant feature in some of them. The myocardium can be affected in the form of a dilated cardiomyopathy while the conduction system can be affected resulting in arrhythmias and conduction defects. Many patients with MD die because of cardiac complications like sudden cardiac death or congestive heart failure. Detailed clinical data about cardiac involvement are available for Duchenne/Becker MD, Emery-Dreifuss MD, myotonic dystrophy, and the different limb girdle MDs. Cardiac manifestations were also found in congenital MD, central core disease, proximal myotonic myopathy, and nemaline myopathy. No data about cardiac abnormalities are available in oculopharyngeal MD and rippling muscle disease. The heart of patients with primary MD should be carefully investigated because of the life-threatening events caused by cardiac complications. There is a strong need for a close collaboration between neurologists and cardiologists in order to provide optimal disease management for the affected patients.
肌营养不良症(MD)是一组临床和遗传异质性疾病。在过去几年中,在理解骨骼肌疾病和心肌疾病之间密切而多样的关系方面取得了显著进展。心脏受累在许多原发性MD中都有记录,甚至在其中一些疾病中是主要特征。心肌可能以扩张型心肌病的形式受到影响,而传导系统可能受到影响,导致心律失常和传导缺陷。许多MD患者死于心脏并发症,如心源性猝死或充血性心力衰竭。关于杜兴/贝克肌营养不良症、埃默里-德赖富斯肌营养不良症、强直性肌营养不良症以及不同类型的肢带型肌营养不良症,都有关于心脏受累的详细临床数据。在先天性肌营养不良症、中央轴空病、近端强直性肌病和杆状体肌病中也发现了心脏表现。关于眼咽型肌营养不良症和波动性肌肉疾病,尚无心脏异常的数据。由于心脏并发症会导致危及生命的事件,原发性MD患者的心脏应进行仔细检查。神经科医生和心脏病专家之间迫切需要密切合作,以便为受影响的患者提供最佳的疾病管理。