Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature

Sharon Katz, Yuval Landau, Ben Pode-Shakked, Itai M. Pessach, Marina Rubinshtein, Yair Anikster, Yishay Salem, Gideon Paret

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)5-7
Number of pages3
JournalMolecular Genetics and Metabolism Reports
Volume10
DOIs
StatePublished - 1 Mar 2017

Keywords

  • ACADVL
  • ECMO
  • VLCAD
  • Very long chain acyl-CoA dehydrogenase deficiency

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