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

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

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
Externally published	Yes

Keywords

ACADVL
ECMO
VLCAD
Very long chain acyl-CoA dehydrogenase deficiency

ASJC Scopus subject areas

Molecular Biology
Genetics
Endocrinology

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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",

language = "English",

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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

TY - JOUR

T1 - Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment

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

N2 - 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.

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.

KW - ACADVL

KW - ECMO

KW - VLCAD

KW - Very long chain acyl-CoA dehydrogenase deficiency

UR - https://www.scopus.com/pages/publications/85002410219

U2 - 10.1016/j.ymgmr.2016.11.008

DO - 10.1016/j.ymgmr.2016.11.008

M3 - Article

AN - SCOPUS:85002410219

SN - 2214-4269

VL - 10

SP - 5

EP - 7

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

ER -

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

Keywords

ASJC Scopus subject areas

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