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

• Main Authors: Sharon Katz, Yuval Landau, Ben Pode-Shakked, Itai M. Pessach, Marina Rubinshtein, Yair Anikster, Yishay Salem, Gideon Paret
• Format: Article
• Language: English
• Published: Elsevier 2017-03-01
• Series: Molecular Genetics and Metabolism Reports
• Subjects: VLCAD; Very long chain acyl-CoA dehydrogenase deficiency; ECMO; ACADVL
• Online Access: http://www.sciencedirect.com/science/article/pii/S2214426916300933

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.