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Katz S, Landau Y, Pode-Shakked B, et al. Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. Mol Genet Metab Rep. 2016;10:5-7doi: 10.1016/j.ymgmr.2016.11.008.
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, 105-7. https://doi.org/10.1016/j.ymgmr.2016.11.008
Katz, Sharon, et al. "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 (2017): 5-7. doi: https://doi.org/10.1016/j.ymgmr.2016.11.008
Katz S, Landau Y, Pode-Shakked B, Pessach IM, Rubinshtein M, Anikster Y, Salem Y, Paret G. Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. Mol Genet Metab Rep. 2016 Dec 08;10:5-7. doi: 10.1016/j.ymgmr.2016.11.008. eCollection 2017 Mar. PMID: 27995075; PMCID: PMC5154967.
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Mol Genet Metab Rep. 2016 Dec 08;10:5-7. doi: 10.1016/j.ymgmr.2016.11.008. eCollection 2017 Mar.

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

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

Affiliations

  1. Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  2. Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  3. Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  4. The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Department of Pediatric Intensive Care, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  5. Department of Pediatric Intensive Care, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  6. Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  7. Department of Pediatric Intensive Care, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

PMID: 27995075 PMCID: PMC5154967 DOI: 10.1016/j.ymgmr.2016.11.008

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

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