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Mitochondrial Cardiovascular Diseases

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Cardiovascular Genetics and Genomics

Abstract

Primary disorders of mitochondrial dysfunction due to mutations in nuclear genes or mitochondrial DNA can present with cardiac phenotypes, either in isolation or within the context of a multi-system mitochondrial encephalomyopathy. Hypertrophic cardiomyopathy and conduction defects are common, but other cardiac manifestations have been described. A systematic approach to the biochemical and/or genetic evaluation of these patients will usually identify the underlying cause, enabling genetic counseling and supportive management of both the cardiac and extra-cardiac features.

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Author information

Authors and Affiliations

  1. Department of Clinical Neuroscience, Cambridge Biomedical Campus, Cambridge, Cambridgeshire, UK

    Michael J. Keogh

  2. Neurology Department, The Newcastle Upon Tyne Hospitals NHS Trust, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, Tyne and Wear, UK

    Hannah E. Steele

  3. Department of Clinical Neurosciences, Addenbrooke’s Hospital, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK

    Patrick F. Chinnery

Authors
  1. Michael J. Keogh
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  2. Hannah E. Steele
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  3. Patrick F. Chinnery
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Corresponding author

Correspondence to Patrick F. Chinnery .

Editor information

Editors and Affiliations

  1. Institute of Cancer & Genetics, University Hospital of Wales, Cardiff, United Kingdom

    Dhavendra Kumar

  2. Barts Heart Centre, St Bartholomew’s Hospital, London, United Kingdom

    Perry Elliott

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Keogh, M.J., Steele, H.E., Chinnery, P.F. (2018). Mitochondrial Cardiovascular Diseases. In: Kumar, D., Elliott, P. (eds) Cardiovascular Genetics and Genomics. Springer, Cham. https://doi.org/10.1007/978-3-319-66114-8_8

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  • DOI: https://doi.org/10.1007/978-3-319-66114-8_8

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-66112-4

  • Online ISBN: 978-3-319-66114-8

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