Cardiomyopathy in congenital disorders of glycosylation
Cardiomyopathy in congenital disorders of glycosylation
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DOI：
10.1017/s1047951103000702
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发表时间：
2003-08-01
影响因子：
1
通讯作者：
Marquardt, T
中科院分区：
文献类型：
--
作者：
Gehrmann, J;Sohlbach, K;Marquardt, T
先天性糖基化疾病是一组遗传性代谢多系统疾病，其特征是蛋白质和脂质糖基化缺陷。在大多数情况下，存在神经肌肉疾病。本研究的目的是描述这种疾病的心脏病学方面的特征。从文献中，我们确定了六名患有与心脏病相关的先天性糖基化疾病的儿童。然后，我们对我们所在机构诊断为先天性糖基化障碍的 20 名患者进行了心血管表现筛查。在文献中确定的 6 名患者中，4 名患有肥厚型心肌病，另外 2 名心脏诊断不清楚。心脏病诊断的平均年龄为 5 个月，范围为 34 周至 24 个月。在这些患者中，有 5 名患者在平均年龄 3.5 个月（1.5 至 6 个月）时死亡，其中 1 名患者死于心源性死亡。我们的 20 名患者中，有 3 名 (15916) 患有并存的心肌病，另外 3 名患有心肌病的患者，我们诊断为先天性糖基化障碍。在我们的队列中，三分之二的患者发现扩张型心肌病，另外三分之一的患者发现肥厚型心肌病。心脏病诊断的平均年龄为 19 个月，范围为 0.5 至 84 个月。在这些患者中，两名患者在婴儿期平均 4 个月大时死亡，特别是在 1.5 个月和 7 个月大时，死于心脏病，其中一名患者突然死亡。其余四名患者仍活着，患有轻微至严重的心脏功能障碍。我们的结论是，在鉴别诊断患有心肌病的儿童时，必须考虑先天性糖基化障碍，并且所有患有先天性糖基化障碍的患者都应筛查相关的心肌病。心脏受累对发病率和死亡率有显着影响，并且可能导致这种疾病的心源性猝死。
Congenital disorders of glycosylation are a group of inherited metabolic multisystem disorders characterized by defects in the glycosylation of proteins and lipids. In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder.From the literature, we identified six children with congenital disorders of glycosylation associated with cardiac disease. We then screened for cardiovascular manifestations 20 patients diagnosed with congenital disorders of glycosylation at our own institution.Of the 6 patients identified in the literature, 4 had hypertrophic cardiomyopathy, while in the other 2 the cardiac diagnosis was unclear. The mean age at cardiac diagnosis was 5 months, with a range from 34 weeks to 24 months. Of the patients, five had died at a mean age of 3.5 months, with a range from 1.5 to 6 months, with one documented cardiac death. Three of our 20 patients (15916) had coexistent cardiomyopathy, and in three additional patients presenting with cardiomyopathy we made the diagnosis of a congenital disorder of glycosylation. In our cohort, dilated cardiomyopathy was found in two-thirds of the patients, with hypertrophic cardiomyopathy in the other third. The mean age at cardiac diagnosis was 19 months, with a range from 0.5 to 84 months. Of these patients, two died in infancy at a mean age of 4 months, specifically at 1.5 and 7 months, due to cardiac disease, with one dying suddenly. The remaining four patients are alive with minor to severe cardiac dysfunction.We conclude that congenital disorders of glycosylation have to be considered in the differential diagnosis of children presenting with cardiomyopathy, and that all patients with congenital disorders of glycosylation should be screened for an associated cardiomyopathy. Cardiac involvement contributes significantly to morbidity and mortality, and probably to sudden cardiac death in this disorder.