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

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 i...

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Autores principales: Katz, Sharon, Landau, Yuval, Pode-Shakked, Ben, Pessach, Itai M., Rubinshtein, Marina, Anikster, Yair, Salem, Yishay, Paret, Gideon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154967/
https://www.ncbi.nlm.nih.gov/pubmed/27995075
http://dx.doi.org/10.1016/j.ymgmr.2016.11.008
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author Katz, Sharon
Landau, Yuval
Pode-Shakked, Ben
Pessach, Itai M.
Rubinshtein, Marina
Anikster, Yair
Salem, Yishay
Paret, Gideon
author_facet Katz, Sharon
Landau, Yuval
Pode-Shakked, Ben
Pessach, Itai M.
Rubinshtein, Marina
Anikster, Yair
Salem, Yishay
Paret, Gideon
author_sort Katz, Sharon
collection PubMed
description 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.
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spelling pubmed-51549672016-12-19 Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature Katz, Sharon Landau, Yuval Pode-Shakked, Ben Pessach, Itai M. Rubinshtein, Marina Anikster, Yair Salem, Yishay Paret, Gideon Mol Genet Metab Rep Case Report 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. Elsevier 2016-12-08 /pmc/articles/PMC5154967/ /pubmed/27995075 http://dx.doi.org/10.1016/j.ymgmr.2016.11.008 Text en © 2016 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Katz, Sharon
Landau, Yuval
Pode-Shakked, Ben
Pessach, Itai M.
Rubinshtein, Marina
Anikster, Yair
Salem, Yishay
Paret, Gideon
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
title Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
title_full Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
title_fullStr Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
title_full_unstemmed Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
title_short Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature
title_sort cardiac failure in very long chain acyl-coa dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ecmo) treatment: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154967/
https://www.ncbi.nlm.nih.gov/pubmed/27995075
http://dx.doi.org/10.1016/j.ymgmr.2016.11.008
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