Clinical Research in Cardiology

, Volume 101, Issue 4, pp 255–261 | Cite as

Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy

  • Ali Yilmaz
  • Hans-Jürgen Gdynia
  • Matthias Ponfick
  • Sabine Rösch
  • Alfred Lindner
  • Albert C. Ludolph
  • Udo Sechtem
Original Paper



Mitochondrial myopathy comprises various clinical subforms of neuromuscular disorders that are characterised by impaired mitochondrial energy metabolism due to dysfunction of the mitochondrial respiratory chain. No comprehensive and targeted cardiovascular magnetic resonance (CMR) studies have been performed so far in patients with mitochondrial disorders. The present study aimed at characterising cardiac disease manifestations in patients with mitochondrial myopathy and elucidating the in vivo cardiac damage pattern of patients with different subforms of mitochondrial disease by CMR studies.

Methods and results

In a prospective study, 37 patients with mitochondrial myopathy underwent comprehensive neurological and cardiac evaluations including physical examination, resting ECG and CMR. The CMR studies comprised cine-CMR, T2-weighted “edema” imaging and T1-weighted late-gadolinium-enhancement (LGE) imaging. Various patterns and degrees of skeletal myopathy were present in the participants of this study, whereas clinical symptoms such as chest pain symptoms (in eight (22%) patients) and various degrees of dyspnea (in 16 (43%) patients) were less frequent. Pathological ECG findings were documented in eight (22%) patients. T2-weighted “edema” imaging was positive in one (3%) patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) only. LGE imaging demonstrated the presence of non-ischemic LGE in 12 (32%) patients: 10 out of 24 (42%) patients with CPEO (chronic progressive external ophthalmoplegia) or KSS (Kearns-Sayre syndrome) and 2 of 3 (67%) patients with MELAS were LGE positive. All 10 LGE-positive patients with CPEO or KSS demonstrated a potentially typical pattern of diffuse intramural LGE in the left-ventricular (LV) inferolateral segments.


Cardiac involvement is a frequent finding in patients with mitochondrial myopathy. A potentially characteristic pattern of diffuse intramural LGE in the LV inferolateral segments was identified in patients suffering from the subforms CPEO or KSS.


Mitochondrial myopathy CMR LGE CPEO KSS MELAS 



This work was supported by the Deutsche Gesellschaft für Muskelkranke (Yi1/1 to A. Yilmaz).

Conflict of interest



  1. 1.
    Chinnery PF, Turnbull DM (2001) Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 106:94–101PubMedCrossRefGoogle Scholar
  2. 2.
    Ito T, Hattori K, Tanaka M, Sugiyama S, Ozawa T (1990) Mitochondrial cytopathy. Jpn Circ J 54:1214–1220PubMedCrossRefGoogle Scholar
  3. 3.
    Zeviani M, Carelli V (2003) Mitochondrial disorders. Curr Opin Neurol 16:585–594PubMedCrossRefGoogle Scholar
  4. 4.
    Lev D, Nissenkorn A, Leshinsky-Silver E et al (2004) Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 25:443–450PubMedCrossRefGoogle Scholar
  5. 5.
    Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 49:377–383PubMedCrossRefGoogle Scholar
  6. 6.
    Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717–719PubMedCrossRefGoogle Scholar
  7. 7.
    Schwartz M, Vissing J (2002) Paternal inheritance of mitochondrial DNA. N Engl J Med 347:576–580PubMedCrossRefGoogle Scholar
  8. 8.
    Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651–653PubMedCrossRefGoogle Scholar
  9. 9.
    Lestienne P, Ponsot G (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1:885PubMedCrossRefGoogle Scholar
  10. 10.
    Wallace DC, Zheng XX, Lott MT et al (1988) Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55:601–610PubMedCrossRefGoogle Scholar
  11. 11.
    Anan R, Nakagawa M, Miyata M et al (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91:955–961PubMedGoogle Scholar
  12. 12.
    Channer KS, Channer JL, Campbell MJ, Rees JR (1988) Cardiomyopathy in the Kearns-Sayre syndrome. Br Heart J 59:486–490PubMedCrossRefGoogle Scholar
  13. 13.
    Guenthard J, Wyler F, Fowler B, Baumgartner R (1995) Cardiomyopathy in respiratory chain disorders. Arch Dis Child 72:223–226PubMedCrossRefGoogle Scholar
  14. 14.
    Holmgren D, Wahlander H, Eriksson BO, Oldfors A, Holme E, Tulinius M (2003) Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. Eur Heart J 24:280–288PubMedCrossRefGoogle Scholar
  15. 15.
    Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E (2007) Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr 96:450–451PubMedCrossRefGoogle Scholar
  16. 16.
    Jose T, Gdynia HJ, Mahrholdt H et al (2011) CMR gives clue to “ragged red fibers” in the heart in a patient with mitochondrial myopathy. Int J Cardiol 149(1):e24–7Google Scholar
  17. 17.
    Goldberg LR, Jessup M (2006) Stage B heart failure: management of asymptomatic left ventricular systolic dysfunction. Circulation 113:2851–2860PubMedCrossRefGoogle Scholar
  18. 18.
    Baccouche H, Mahrholdt H, Meinhardt G et al (2009) Diagnostic synergy of non-invasive cardiovascular magnetic resonance and invasive endomyocardial biopsy in troponin-positive patients without coronary artery disease. Eur Heart J 30:2869–2879PubMedCrossRefGoogle Scholar
  19. 19.
    Yilmaz A, Kindermann I, Kindermann M et al (2010) Comparative evaluation of left and right ventricular endomyocardial biopsy: differences in complication rate and diagnostic performance. Circulation 122:900–909PubMedCrossRefGoogle Scholar
  20. 20.
    Cerqueira MD, Weissman NJ, Dilsizian V et al (2002) Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Circulation 105:539–542PubMedCrossRefGoogle Scholar
  21. 21.
    Rochitte CE, Oliveira PF, Andrade JM et al (2005) Myocardial delayed enhancement by magnetic resonance imaging in patients with Chagas’ disease: a marker of disease severity. J Am Coll Cardiol 46:1553–1558PubMedCrossRefGoogle Scholar
  22. 22.
    Silva MC, Meira ZM, Gurgel GJ et al (2007) Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol 49:1874–1879PubMedCrossRefGoogle Scholar
  23. 23.
    Francone M, Bucciarelli-Ducci C, Carbone I et al (2009) Impact of primary coronary angioplasty delay on myocardial salvage, infarct size, and microvascular damage in patients with ST-segment elevation myocardial infarction: insight from cardiovascular magnetic resonance. J Am Coll Cardiol 54:2145–2153PubMedCrossRefGoogle Scholar
  24. 24.
    Baccouche H, Yilmaz A, Alscher D, Klingel K, Val-Bernal JF, Mahrholdt H (2008) Images in cardiovascular medicine. Magnetic resonance assessment and therapy monitoring of cardiac involvement in Churg-Strauss syndrome. Circulation 117:1745–1749PubMedCrossRefGoogle Scholar
  25. 25.
    Yilmaz A, Gdynia HJ, Baccouche H et al (2008) Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach. J Cardiovasc Magn Reson 10:50PubMedCrossRefGoogle Scholar
  26. 26.
    Yilmaz A, Gdynia HJ, Ludolph AC, Klingel K, Kandolf R, Sechtem U (2010) Images in cardiovascular medicine. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI. Circulation 121:e237–e239PubMedCrossRefGoogle Scholar
  27. 27.
    Cooper LT, Baughman KL, Feldman AM et al (2007) The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Endorsed by the Heart Failure Society of America and the Heart Failure Association of the European Society of Cardiology. J Am Coll Cardiol 50:1914–1931PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Ali Yilmaz
    • 1
  • Hans-Jürgen Gdynia
    • 2
  • Matthias Ponfick
    • 2
  • Sabine Rösch
    • 1
  • Alfred Lindner
    • 3
  • Albert C. Ludolph
    • 2
  • Udo Sechtem
    • 1
  1. 1.Division of CardiologyRobert-Bosch-KrankenhausStuttgartGermany
  2. 2.Department of NeurologyUniversity of UlmUlmGermany
  3. 3.Department of NeurologyMarienhospitalStuttgartGermany

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