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Cardiology364 papers

Mitochondrial cardiomyopathy

Last edited: 4/14/2026

Overview

Mitochondrial cardiomyopathy encompasses a spectrum of cardiac diseases linked to mitochondrial dysfunction, affecting energy production and leading to multi-organ involvement including heart failure, hepatic dysfunction, and renal impairment 5.

Diagnosis

  • Clinical presentation often includes cardiomyopathy with multi-organ dysfunction (heart, liver, kidneys) and lactic acidosis 5.
  • Elevated lactate levels and metabolic acidosis indicative of impaired mitochondrial function 5.
  • Genetic testing may reveal mitochondrial DNA mutations or deficiencies in mitochondrial proteins 4.
  • Biochemical assays for CoQ10 levels, as deficiencies are common 4.
  • Imaging studies (echocardiography, MRI) to assess cardiac structure and function 5.

    • Management

  • First-line treatments:
    • - Coenzyme Q10 supplementation to address deficiencies and improve mitochondrial function 4. - Exercise training to enhance oxidative capacity and exercise tolerance 4.
  • Adjunctive therapies:
    • - Plasma exchange and other supportive measures in acute severe cases 5. - Monitoring and management of organ-specific failures (e.g., renal replacement therapy for renal failure) 5.

    Special Populations

  • Pregnancy: Limited data; close monitoring of maternal and fetal status due to potential multi-organ involvement 5.
  • Pediatrics: Early diagnosis crucial; supportive care and symptomatic management tailored to developmental stage 5.
  • Elderly: Increased susceptibility to complications; individualized treatment plans considering comorbidities 5.
  • Comorbidities: Management requires addressing concurrent mitochondrial deficiencies and organ-specific dysfunctions 5.

    • Key Recommendations

  • Evaluate and supplement CoQ10 levels in patients with suspected mitochondrial cardiomyopathy to address common deficiencies (Evidence: Moderate 4).
  • Implement exercise training programs to improve exercise tolerance and oxidative capacity in affected individuals (Evidence: Moderate 4).
  • Employ comprehensive supportive care measures, including plasma exchange in severe cases, tailored to multi-organ involvement (Evidence: Weak 5).

    • References

    1 González-García P, Hidalgo-Gutiérrez A, Mascaraque C, Barriocanal-Casado E, Bakkali M, Ziosi M et al.. Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism. Human molecular genetics 2020. link 2 Pires J, Haynes CM. Mitochondrial Biogenesis: MitoCPR Resuscitates Import-Defective Mitochondria. Current biology : CB 2018. link 3 Suliman HB, Piantadosi CA. Mitochondrial biogenesis: regulation by endogenous gases during inflammation and organ stress. Current pharmaceutical design 2014. link 4 Hassani A, Horvath R, Chinnery PF. Mitochondrial myopathies: developments in treatment. Current opinion in neurology 2010. link 5 Tsujita Y, Kunitomo T, Fujii M, Furukawa S, Otsuki H, Fujino K et al.. A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. International journal of cardiology 2008. link 6 Nadanaciva S, Bernal A, Aggeler R, Capaldi R, Will Y. Target identification of drug induced mitochondrial toxicity using immunocapture based OXPHOS activity assays. Toxicology in vitro : an international journal published in association with BIBRA 2007. link 7 Depeint F, Bruce WR, Shangari N, Mehta R, O'Brien PJ. Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways. Chemico-biological interactions 2006. link 8 Depeint F, Bruce WR, Shangari N, Mehta R, O'Brien PJ. Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism. Chemico-biological interactions 2006. link 9 Hashimoto T, Yamamoto Y, Yoshida Y, Tagawa K. Cleavage of bovine mitochondrial ATPase inhibitor with endopeptidases, and binding of the resulting peptides to the interface between the alpha- and beta-subunits of F1ATPase. Journal of biochemistry 1995. link 10 Mironova GD, Baumann M, Kolomytkin O, Krasichkova Z, Berdimuratov A, Sirota T et al.. Purification of the channel component of the mitochondrial calcium uniporter and its reconstitution into planar lipid bilayers. Journal of bioenergetics and biomembranes 1994. link 11 Iwahashi Y, Nakamura T. Localization of the NADH kinase in the inner membrane of yeast mitochondria. Journal of biochemistry 1989. link 12 Freisleben HJ, Zimmer G. ATP synthase complex from beef heart mitochondria. Separation of protein bands in the region of 28-31 kDa. European journal of biochemistry 1986. link 13 Somlo M, Clavilier L, Dujon B, Kermorgant M. The pho1 mutation. A frameshift, and its compensation, producing altered forms of physiologically efficient ATPase in yeast mitochondria. European journal of biochemistry 1985. link 14 Rauchová H, Haskovec C, Drahota Z. Solubilization and immunochemical identification of mitochondrial glycerol-3-phosphate dehydrogenase. Physiologia Bohemoslovaca 1985. link 15 Herrin D, Michaels A. In vitro synthesis and assembly of the peripheral subunits of coupling factor CF1 (alpha and beta) by thylakoid-bound ribosomes. Archives of biochemistry and biophysics 1985. link90273-5) 16 Jarausch J, Kadenbach B. Structure of the cytochrome c oxidase complex of rat liver. 2. Topological orientation of polypeptides in the membrane as studied by proteolytic digestion and immunoblotting. European journal of biochemistry 1985. link 17 Yokota S, Hashimoto T. Innermembrane association of three mitochondrial beta-oxidation enzymes revealed by immunoelectron microscopic technique. Histochemistry 1984. link

    Original source

    1. [1]
      Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism. — González-García P, Hidalgo-Gutiérrez A, Mascaraque C, Barriocanal-Casado E, Bakkali M, Ziosi M et al. Human molecular genetics (2020)
    2. [2]
      Mitochondrial Biogenesis: MitoCPR Resuscitates Import-Defective Mitochondria. — Pires J, Haynes CM Current biology : CB (2018)
    3. [3]
      Mitochondrial biogenesis: regulation by endogenous gases during inflammation and organ stress. — Suliman HB, Piantadosi CA Current pharmaceutical design (2014)
    4. [4]
      Mitochondrial myopathies: developments in treatment. — Hassani A, Horvath R, Chinnery PF Current opinion in neurology (2010)
    5. [5]
      A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. — Tsujita Y, Kunitomo T, Fujii M, Furukawa S, Otsuki H, Fujino K et al. International journal of cardiology (2008)
    6. [6]
      Target identification of drug induced mitochondrial toxicity using immunocapture based OXPHOS activity assays. — Nadanaciva S, Bernal A, Aggeler R, Capaldi R, Will Y Toxicology in vitro : an international journal published in association with BIBRA (2007)
    7. [7]
      Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways. — Depeint F, Bruce WR, Shangari N, Mehta R, O'Brien PJ Chemico-biological interactions (2006)
    8. [8]
      Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism. — Depeint F, Bruce WR, Shangari N, Mehta R, O'Brien PJ Chemico-biological interactions (2006)
    9. [9]
      Cleavage of bovine mitochondrial ATPase inhibitor with endopeptidases, and binding of the resulting peptides to the interface between the alpha- and beta-subunits of F1ATPase. — Hashimoto T, Yamamoto Y, Yoshida Y, Tagawa K Journal of biochemistry (1995)
    10. [10]
      Purification of the channel component of the mitochondrial calcium uniporter and its reconstitution into planar lipid bilayers. — Mironova GD, Baumann M, Kolomytkin O, Krasichkova Z, Berdimuratov A, Sirota T et al. Journal of bioenergetics and biomembranes (1994)
    11. [11]
      Localization of the NADH kinase in the inner membrane of yeast mitochondria. — Iwahashi Y, Nakamura T Journal of biochemistry (1989)
    12. [12]
      ATP synthase complex from beef heart mitochondria. Separation of protein bands in the region of 28-31 kDa. — Freisleben HJ, Zimmer G European journal of biochemistry (1986)
    13. [13]
      The pho1 mutation. A frameshift, and its compensation, producing altered forms of physiologically efficient ATPase in yeast mitochondria. — Somlo M, Clavilier L, Dujon B, Kermorgant M European journal of biochemistry (1985)
    14. [14]
      Solubilization and immunochemical identification of mitochondrial glycerol-3-phosphate dehydrogenase. — Rauchová H, Haskovec C, Drahota Z Physiologia Bohemoslovaca (1985)
    15. [15]
      In vitro synthesis and assembly of the peripheral subunits of coupling factor CF1 (alpha and beta) by thylakoid-bound ribosomes. — Herrin D, Michaels A Archives of biochemistry and biophysics (1985)
    16. [16]
      Structure of the cytochrome c oxidase complex of rat liver. 2. Topological orientation of polypeptides in the membrane as studied by proteolytic digestion and immunoblotting. — Jarausch J, Kadenbach B European journal of biochemistry (1985)
    17. [17]
      Innermembrane association of three mitochondrial beta-oxidation enzymes revealed by immunoelectron microscopic technique. — Yokota S, Hashimoto T Histochemistry (1984)
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