Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options

Heart Fail Clin. 2022 Jan;18(1):51-60. doi: 10.1016/j.hfc.2021.07.003. Epub 2021 Oct 26.


Mitochondrial diseases (MD) include an heterogenous group of systemic disorders caused by sporadic or inherited mutations in nuclear or mitochondrial DNA (mtDNA), causing impairment of oxidative phosphorylation system. Hypertrophic cardiomyopathy is the dominant pattern of cardiomyopathy in all forms of mtDNA disease, being observed in almost 40% of the patients. Dilated cardiomyopathy, left ventricular noncompaction, and conduction system disturbances have been also reported. In this article, the authors discuss the current clinical knowledge on MD, focusing on diagnosis and management of mitochondrial diseases caused by mtDNA mutations.

Keywords: Hypertrophic cardiomyopathy; MELAS syndrome; Mitochondrial diseases; mtDNA.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies* / etiology
  • Cardiomyopathies* / genetics
  • Cardiomyopathy, Dilated*
  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Cardiomyopathy, Hypertrophic* / genetics
  • Cardiomyopathy, Hypertrophic* / therapy
  • DNA, Mitochondrial / genetics
  • Humans
  • Mitochondrial Diseases* / diagnosis
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / therapy


  • DNA, Mitochondrial