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

doi:10.1016/j.ymgmr.2016.11.008

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^*

^*Corresponding author for this work

Pediatrics

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10 Scopus citations

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 language	English
Pages (from-to)	5-7
Number of pages	3
Journal	Molecular Genetics and Metabolism Reports
Volume	10
DOIs	https://doi.org/10.1016/j.ymgmr.2016.11.008
State	Published - 1 Mar 2017

Keywords

ACADVL
ECMO
VLCAD
Very long chain acyl-CoA dehydrogenase deficiency

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10.1016/j.ymgmr.2016.11.008

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Katz, S., Landau, Y., Pode-Shakked, B., Pessach, I. M., Rubinshtein, M., Anikster, Y., Salem, Y., & Paret, G. (2017). Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. Molecular Genetics and Metabolism Reports, 10, 5-7. https://doi.org/10.1016/j.ymgmr.2016.11.008

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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",

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.",

keywords = "ACADVL, ECMO, VLCAD, Very long chain acyl-CoA dehydrogenase deficiency",

author = "Sharon Katz and Yuval Landau and Ben Pode-Shakked and Pessach, {Itai M.} and Marina Rubinshtein and Yair Anikster and Yishay Salem and Gideon Paret",

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doi = "10.1016/j.ymgmr.2016.11.008",

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Katz, S, Landau, Y , Pode-Shakked, B , Pessach, IM, Rubinshtein, M, Anikster, Y, Salem, Y & Paret, G 2017, 'Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature', Molecular Genetics and Metabolism Reports, vol. 10, pp. 5-7. https://doi.org/10.1016/j.ymgmr.2016.11.008

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 et al.
In: Molecular Genetics and Metabolism Reports, Vol. 10, 01.03.2017, p. 5-7.

Research output: Contribution to journal › Article › peer-review

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T2 - A case report and review of the literature

AU - Katz, Sharon

AU - Landau, Yuval

AU - Pode-Shakked, Ben

AU - Pessach, Itai M.

AU - Rubinshtein, Marina

AU - Anikster, Yair

AU - Salem, Yishay

AU - Paret, Gideon

PY - 2017/3/1

Y1 - 2017/3/1

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

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Keywords

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