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Case report
Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family
  1. Elizabeth H Dineen1,
  2. Ali Torkamani2 and
  3. Evan D Muse1,2
  1. 1Department of Cardiology, Prebys Cardiovascular Institute, Scripps Clinic, La Jolla, California, USA
  2. 2Scripps Research Translational Institute, La Jolla, California, USA
  1. Correspondence to Dr Elizabeth H Dineen; eliz.ann.hill{at}gmail.com

Abstract

Mitochondrial diseases are rare, often go undiagnosed and can lead to devastating cascades of multisystem organ dysfunction. This report of a young woman with hearing loss and gestational diabetes illustrates a novel presentation of a cardiomyopathy caused by a previously described mutation in a mitochondrial gene, MT-TL1. She initially had biventricular heart dysfunction and ventricular arrhythmia that ultimately recovered with beta blockade and time. She continues to participate in sport without decline. It is important to keep mitochondrial diseases in the differential diagnosis and understand the testing and management strategies in order to provide the best patient care.

  • genetic screening / counselling
  • cardiovascular medicine

http://dx.doi.org/10.1136/bcr-2020-237592

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    Footnotes

    • Twitter @BethHillDO

    • Contributors EHD: conception and design, acquisition of data, interpretation of data, drafting the article and revising it critically for important intellectual content, final approval of the version published. AT: conception and design, acquisition of data, interpretation of data, revising the article critically for important intellectual content, final approval of the version published. EM: conception and design, acquisition of data, interpretation of data, revising the article critically for important intellectual content, final approval of the version published. All authors are in agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.