Herein we report on a patient acutely admitted to the emergency room due to malaise and effort intolerance. A heart ultrasound, a cardiovascular MRI and an endomyocardial biopsy were suggestive of myocarditis. With appropriate medications the ejection fraction (EF) slowly improved but follow-up blood examinations revealed a hyperckemia. A neuromuscular examination revealed bilateral atrophy of medial gastrocnemius muscle and absent deep tendon reflexes at lower limbs . Genetic analysis revealed the presence of the hemizygous novel mutation c.757delT (p.Trp253fs) in XK gene thus confirming the diagnosis of McLeod Syndrome (MLS). In this patient an overlap of two conditions, dilative cardiomyopathy (DCMi) due to myocarditis and MLS, might have occurred. Patients with DCMi and hyperckemia should undergo a careful neuromuscular examination as some subclinical signs (calves-hypotrophy, areflexia) might go overlooked. We therefore suggest including the search for acanthocytes in patients with DCMi and hyperCKemia as it is a quick and cheap test that might unravel the MLS diagnosis.

中文翻译：

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扩张型心肌病显示双重麻烦病因：心肌炎和麦克劳德综合征？

在此，我们报告了一名因不适和努力不耐受而急诊入院的患者。心脏超声、心血管 MRI 和心内膜心肌活检提示心肌炎。通过适当的药物治疗，射血分数 (EF) 缓慢改善，但后续血液检查显示高血钾。神经肌肉检查显示双侧腓肠肌内侧萎缩，下肢深腱反射消失。遗传分析显示 XK 基因中存在半合子新突变 c.757delT (p.Trp253fs)，从而证实了麦克劳德综合征 (MLS) 的诊断。在该患者中，可能发生了两种情况的重叠，即由心肌炎和 MLS 引起的扩张性心肌病 (DCMi)。DCMi 和高血血症患者应接受仔细的神经肌肉检查，因为一些亚临床体征（小腿肌肉萎缩、反射消失）可能会被忽视。因此，我们建议包括在 DCMi 和高 CK 血症患者中寻找棘细胞，因为它是一种快速且廉价的测试，可能会解开 MLS 的诊断。