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Bursle C, Weintraub R, Ward C, et al. Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. JIMD Rep. 2017;40:91-95doi: 10.1007/8904_2017_68.
Bursle, C., Weintraub, R., Ward, C., Justo, R., Cardinal, J., & Coman, D. (2018). Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. JIMD reports, 4091-95. https://doi.org/10.1007/8904_2017_68
Bursle, C, et al. "Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation." JIMD reports vol. 40 (2018): 91-95. doi: https://doi.org/10.1007/8904_2017_68
Bursle C, Weintraub R, Ward C, Justo R, Cardinal J, Coman D. Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. JIMD Rep. 2018;40:91-95. doi: 10.1007/8904_2017_68. Epub 2017 Nov 10. PMID: 29124685; PMCID: PMC6122028.
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JIMD Rep. 2018;40:91-95. doi: 10.1007/8904_2017_68. Epub 2017 Nov 10.

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

JIMD reports

C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman

Affiliations

  1. Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
  2. School of Medicine, University of Queensland, Brisbane, QLD, Australia.
  3. Department of Cardiology, The Royal Children's Hospital, Melbourne, VIC, Australia.
  4. School of Medicine, University of Melbourne, Melbourne, VIC, Australia.
  5. Department of Cardiology, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
  6. Cardinal Bioresearch, Brisbane, QLD, Australia.
  7. Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia. [email protected].
  8. School of Medicine, University of Queensland, Brisbane, QLD, Australia. [email protected].
  9. Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia. [email protected].
  10. School of Medicine, Griffith University, Gold Coast, QLD, Australia. [email protected].

PMID: 29124685 PMCID: PMC6122028 DOI: 10.1007/8904_2017_68

Abstract

We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function. The outcome has been excellent, with no apparent extra-cardiac manifestations of a fatty acid oxidation disorder at the age of 7. Pathogenic HADHA mutations were subsequently identified via genome wide exome sequencing. This is the first reported case of MTPD to undergo cardiac transplantation. We suggest that cardiac transplantation could be considered in the treatment of cardiomyopathy in MTPD.

Keywords: Cardiomyopathy; Fatty acid oxidation; Mitochondrial trifunctional protein; Transplant

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