Nuclear genes causing mitochondrial cardiomyopathy

Stephanie Ware, Jeffrey A. Towbin

Research output: Chapter in Book/Report/Conference proceedingChapter


The heart is one of the major energy-consuming organs. Consequently, cardiac muscle dysfunction is a common but underrecognized feature of mitochondrial disease. Patients with mitochondrial disease and cardiac involvement have higher morbidity and mortality. Early recognition and prompt treatment of cardiac symptoms can significantly impact recovery and limit disease progression. Mutations in the X-linked gene TAZ cause Barth syndrome, a disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, and 3-methlyglutaconic aciduria. An undulating cardiac phenotype is common in many mitochondrial cardiomyopathies including Barth syndrome, with phenotypes alternating between hypertrophic and dilated forms. Left ventricular noncompaction, a developmental arrest of the myocardium, may be seen in isolation or in combination with other cardiomyopathy phenotypes. Four additional nuclear genes known to cause mitochondrial cardiomyopathy by disparate mechanisms are SLC25A3, SURF1, SCO2, and TMEM70. In addition, secondary cardiac mitochondrial dysfunction is a common finding in patients with end-stage heart failure, aging, ischemia, and diabetes. Consequently, there is substantial interest in the identification of therapy for both primary and secondary cardiac mitochondrial dysfunction.

Original languageEnglish (US)
Title of host publicationMitochondrial Disorders Caused by Nuclear Genes
PublisherSpringer New York
Number of pages17
ISBN (Print)9781461437222, 1461437210, 9781461437215
StatePublished - Mar 1 2013
Externally publishedYes


  • Barth syndrome
  • Cardiolipin
  • Cardiomyopathy
  • Heart failure
  • Left ventricular noncompaction

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Ware, S., & Towbin, J. A. (2013). Nuclear genes causing mitochondrial cardiomyopathy. In Mitochondrial Disorders Caused by Nuclear Genes (Vol. 9781461437222, pp. 319-335). Springer New York.