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Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

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JIMD Reports, Volume 40

Part of the book series: JIMD Reports ((JIMD,volume 40))

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.

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Author information

Authors and Affiliations

  1. Department of Metabolic Medicine, The Lady Cilento Children’s Hospital, Brisbane, QLD, Australia

    C. Bursle & D. Coman

  2. School of Medicine, University of Queensland, Brisbane, QLD, Australia

    C. Bursle, C. Ward, R. Justo & D. Coman

  3. Department of Cardiology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    R. Weintraub

  4. School of Medicine, University of Melbourne, Melbourne, VIC, Australia

    R. Weintraub

  5. Department of Cardiology, The Lady Cilento Children’s Hospital, Brisbane, QLD, Australia

    C. Ward & R. Justo

  6. Cardinal Bioresearch, Brisbane, QLD, Australia

    J. Cardinal

  7. Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia

    D. Coman

  8. School of Medicine, Griffith University, Gold Coast, QLD, Australia

    D. Coman

Authors
  1. C. Bursle
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  2. R. Weintraub
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  3. C. Ward
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  4. R. Justo
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  5. J. Cardinal
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  6. D. Coman
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Corresponding author

Correspondence to D. Coman .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Saskia Brigitte Wortmann, M.D., Ph.D.

Appendices

Synopsis

Cardiac transplantation could be considered in the treatment of cardiomyopathy in mitochondrial trifunction protein deficiency.

Contributors’ Statements

Dr. Carolyn Bursle is a metabolic fellow involved in patient care and development of the manuscript.

Drs. David Weintraub, Cameron Ward and Robert Justo are paediatric cardiologists involved in patient care and manuscript development.

Dr. John Cardinal is a medical scientist involved in manuscript development.

Professor David Coman is a metabolic physician involved in patient care and has driven the manuscript design and development.

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding Author

David Coman.

Conflict of Interest

The other authors have no conflicts of interest to disclose.

Funding Source

This project was supported by the Kevin Milo Benevolent Fund.

Ethics Approval

N/A.

Patient Consent

The patients’ parents consent to publication of this case report.

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© 2017 Society for the Study of Inborn Errors of Metabolism (SSIEM)

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Bursle, C., Weintraub, R., Ward, C., Justo, R., Cardinal, J., Coman, D. (2017). Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 40. JIMD Reports, vol 40. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_68

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  • DOI: https://doi.org/10.1007/8904_2017_68

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-57879-7

  • Online ISBN: 978-3-662-57880-3

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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