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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Communicated by: Saskia Brigitte Wortmann, M.D., Ph.D.
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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.
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David Coman.
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The other authors have no conflicts of interest to disclose.
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This project was supported by the Kevin Milo Benevolent Fund.
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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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