遗传性代谢疾病的临床和生化特征。四、代谢性心血管疾病。
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
出版信息
Mol Genet Metab. 2021 Feb;132(2):112-118. doi: 10.1016/j.ymgme.2020.12.290. Epub 2020 Dec 25.
Abstract
Inherited metabolic diseases account for 15-20% of all cases of pediatric cardiomyopathy, with a high mortality of 15-47%. Metabolic diseases can also commonly be associated with other types of cardiovascular involvement such as arrhythmias, valvulopathy or vasculopathy. We reviewed and updated the list of known metabolic etiologies associated with cardiovascular involvement, and found 246 relevant inborn errors of metabolism. This represents the fourth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
摘要
遗传性代谢疾病占儿科心肌病所有病例的 15-20%，死亡率高达 15-47%。代谢疾病也常与其他类型的心血管受累相关，如心律失常、瓣膜病或血管病。我们回顾并更新了已知与心血管受累相关的代谢病因列表，发现了 246 种相关的先天性代谢缺陷。这是根据系统受累尝试创建和维护全面的临床和代谢鉴别诊断列表的系列文章中的第四篇。
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