文章基本信息
- 标题：Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
- 本地全文：下载
- 作者：Sharon Katz ; Yuval Landau ; Ben Pode-Shakked 等
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2017
- 卷号：10
- 页码：5-7
- DOI：10.1016/j.ymgmr.2016.11.008
- 出版社：Elsevier B.V.
- 摘要：
Fatty acid oxidation (FAO) defects often present with multi-system involvement, including several life-threatening cardiac manifestations, such as cardiomyopathy, pericardial effusion and arrhythmias.
We report herein a fatal case of cardiac dysfunction and rapid-onset tamponade following an acute illness in a neonate with molecularly proven very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (harboring the known del799_802 mutation), requiring 15 days of extracorporeal membrane oxygenation (ECMO) treatment.
As data regarding the use of ECMO in FAO defects in general, and VLCAD in particular, are scarce, we review the literature and discuss insights from in vitro models and several successful reported cases.
- 关键词：VLCAD; Very long chain acyl-CoA dehydrogenase deficiency; ECMO; ACADVL
