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Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency

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Journal of Inherited Metabolic Disease

Abstract

Summary: Biventricular hypertrophy was noted at 24 weeks' gestation in a fetus with isolated cytochrome-c oxidase (COX) deficiency. Shock, caused by hypertrophic cardiomyopathy and severe pulmonary hypertension, led to the patient's death on day 6. His phenotype defines a new lethal variant of COX deficiency characterized by prenatal-onset cardiopulmonary pathophysiology.

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Authors and Affiliations

  1. Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    C. P. Venditti, E. M. Kaye & G. T. Berry

  2. Division of Neonatology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    M. C. Harris, I. Peterside & D. Munson

  3. Department of Pathology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    D. Huff

  4. Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    J. Rome

  5. Department of Cardiology, The Pennsylvania State University Children's Hospital, Hershey, Pennsylvania, USA

    H. S. Weber

  6. Columbia University College of Physicians and Surgeons, New York, USA

    S. Shanske, S. Sacconi, S. Tay & S. DiMauro

Authors
  1. C. P. Venditti
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  2. M. C. Harris
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  3. D. Huff
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  4. I. Peterside
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  5. D. Munson
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  6. H. S. Weber
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  7. J. Rome
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  8. E. M. Kaye
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  9. S. Shanske
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  10. S. Sacconi
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  11. S. Tay
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  12. S. DiMauro
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  13. G. T. Berry
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Corresponding author

Correspondence to G. T. Berry.

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Venditti, C.P., Harris, M.C., Huff, D. et al. Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency. J Inherit Metab Dis 27, 735–739 (2004). https://doi.org/10.1023/B:BOLI.0000045711.89888.5e

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  • DOI: https://doi.org/10.1023/B:BOLI.0000045711.89888.5e

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