Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Via Roma 67, 56100, Pisa, Italy.
Department of Internal Medicine, University of Genova, Genoa, Italy.
Neurol Sci. 2024 Oct;45(10):4757-4765. doi: 10.1007/s10072-024-07600-x. Epub 2024 May 27.
Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a "pure myopathy," cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease.
Our systematic literature revision identified 7 case reports and 1 retrospective cohort study. The case reports described 7 GSD-V patients, averaging 54.3 years in age, mostly male (85.7%). Coronary artery disease was noted in 57.1% of cases, hypertrophic cardiomyopathy in 28.5%, severe aortic stenosis in 14.3%, and genetic dilated cardiomyopathy in one. In the retrospective cohort study, five out of 14 subjects (36%) had coronary artery disease.
Despite McArdle disease primarily affecting skeletal muscle, cardiac involvement has been observed, especially coronary artery disease, the frequency of which was moreover found to be higher in McArdle patients than in the background population in a previous study from a European registry. Exaggerated cardiovascular responses during exercise and impaired glycolytic metabolism have been speculated as potential contributors. A comprehensive cardiological screening might be recommended for McArdle disease patients to detect and manage cardiac comorbidities. A multidisciplinary approach is crucial to effectively manage both neurological and cardiac aspects of the disease and improve patient outcomes. Further research is required to establish clearer pathophysiological links between McArdle disease and cardiac manifestations in order to clarify the existing findings.
肌磷酸化酶缺乏症，又称 McArdle 病或糖原贮积症 V 型（GSD-V），是一种常染色体隐性代谢性肌病，导致骨骼肌中糖原分解受损。尽管被标记为“纯肌病”，但已有一些病例报告了心脏受累，包括各种心脏异常，如心电图改变、冠状动脉疾病和心肌病。在这里，我们报告了一例 72 岁男性 GSD-V 合并二尖瓣瓣病变和冠状动脉疾病的独特病例，并进行了系统综述，以探讨 McArdle 病中心脏合并症的现有文献。
我们的系统文献复习确定了 7 例病例报告和 1 项回顾性队列研究。病例报告描述了 7 例 GSD-V 患者，平均年龄为 54.3 岁，大多数为男性（85.7%）。57.1%的病例存在冠状动脉疾病，28.5%存在肥厚型心肌病，14.3%存在严重主动脉瓣狭窄，1 例存在遗传性扩张型心肌病。在回顾性队列研究中，14 例中有 5 例（36%）存在冠状动脉疾病。
尽管 McArdle 病主要影响骨骼肌，但已有心脏受累的观察结果，特别是冠状动脉疾病，在之前来自欧洲登记处的一项研究中，McArdle 患者的冠状动脉疾病频率高于背景人群。运动时心血管反应过度和糖酵解代谢受损被推测为潜在的致病因素。建议对 McArdle 病患者进行全面的心脏筛查，以发现和管理心脏合并症。多学科方法对于有效管理疾病的神经和心脏方面以及改善患者结局至关重要。需要进一步的研究来确定 McArdle 病和心脏表现之间更明确的病理生理学联系，以阐明现有发现。
