Posada Rodríguez I J, Gutiérrez-Rivas E, Cabello A
Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid.
Rev Esp Cardiol. 1997 Dec;50(12):882-901. doi: 10.1016/s0300-8932(97)74695-5.
Many neuromuscular disorders involve the heart, occasionally with overt clinical disease. Muscular dystrophies (dystrophinopathies, limb girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, Steinert's myotonic dystrophy), congenital myopathies, inflammatory myopathies and metabolic diseases (glycogenosis, periodic paralysis, mitochondrial diseases) may produce dilated or hypertrophic cardiomyopathy and heart rhythm or conduction disturbances. Furthermore the heart is commonly involved in some hereditary and degenerative diseases (Friedreich's ataxia and Kugelberg-Welander syndrome) and acquired (Guillain-Barré syndrome) or inherited (Refsum's disease and Charcot-Marie-Tooth syndrome) polyneuropathies. A cardiologist's high clinical suspicion and a simple but systematic skeletal muscle and peripheral nerve investigation, including muscle enzymes quantification, neurophysiological study and muscle biopsy, are necessary for an accurate diagnosis. In selected patients, more sophisticated biochemical and genetic analysis will be necessary. In most cases, endomyocardial biopsy is not essential for the diagnosis.
许多神经肌肉疾病累及心脏，偶尔会出现明显的临床疾病。肌营养不良症（肌营养不良蛋白病、肢带型肌营养不良症、埃默里-德赖富斯肌营养不良症、斯坦纳特强直性肌营养不良症）、先天性肌病、炎性肌病和代谢性疾病（糖原贮积病、周期性瘫痪、线粒体疾病）可能导致扩张型或肥厚型心肌病以及心律或传导障碍。此外，心脏通常还会累及一些遗传性和退行性疾病（弗里德赖希共济失调和库格尔贝格-韦兰德综合征）以及获得性（格林-巴利综合征）或遗传性（雷夫叙姆病和夏科-马里-图斯综合征）多发性神经病。心脏病专家高度的临床怀疑以及简单但系统的骨骼肌和周围神经检查，包括肌肉酶定量、神经生理学研究和肌肉活检，对于准确诊断是必要的。在选定的患者中，更复杂的生化和基因分析将是必要的。在大多数情况下，心内膜心肌活检对于诊断并非必不可少。
