Skip to main content
SpringerLink
Log in

Congestive heart failure due to mitochondrial cardiomyopathy in kearns-sayre syndrome

  • Kasuistiken
  • Published:
Klinische Wochenschrift Aims and scope Submit manuscript

Summary

Despite extensive analysis of the ultrastructural changes in skeletal muscle fibers in chronic progressive external ophthalmoplegia (CPEO), similar changes in the heart muscle fibers of patients with cardiac involvement in CPEO, called Kearns-Sayre syndrome, have not been described in detail. We report the clinical long-term course in a patient with Kearns-Sayre syndrome in whom mitochondrial cardiomyopathy was suspected in vivo and was confirmed at autopsy as the underlying cause of severe dilative cardiomyopathy. Enlarged, abnormally structured, excessively augmented mitochondria and loss of myofibrils could be shown both in skeletal and heart muscle cells.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

CPEO:

chronic progressive external ophthalmoplegia

EMG:

electromyogram

ENT department:

ear, nose, and throat department

LAH:

left anterior hemiblock

LVEDP:

left ventricular end-diastolic pressure

LVEDVI:

left ventricular end-diastolic volume index

LVEF:

left ventricular ejection fraction

LVESVI:

left ventricular end-systolic volume index

PAP:

pulmonary artery pressure

RAP:

right arterial pressure

References

  1. Berenberg RA, Pellock JM, Di Mauro S, Schotland MD, Bonilla E, Eastwood A, Hays A, Vicale CT, Behrens M, Chutorian A, Rowland LP (1977) Lumping or splitting? “Ophthalmoplegia plus” or Kearns-Sayre Syndrome? Ann Neurol 1:37–54

    Google Scholar 

  2. Birnberger KL, Weindl A, Struppler A, Schinko T, Pongratz D (1973) Ophthalmoplegia externa progressiva. Z Neurol 205:323–340

    Google Scholar 

  3. Butler IJ, Gadoth N (1976) Kearns-Sayre syndrome. Arch Intern Med 136:1290–1293

    Google Scholar 

  4. Charles R, Holt S, Kay JM, Epstein EJ, Rees JR (1981) Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. Circulation 63:214–219

    Google Scholar 

  5. Clark DS, Myerburg RJ, Morales AR, Befeler B, Hernandez FA, Gelband H (1975) Heart block in Kearns-Sayre syndrome, electrophysiologic-pathologic correlation. Chest 68:727–730

    Google Scholar 

  6. Drachman DA (1968) Ophthalmoplegia plus. Arch Neurol 18:654–674

    Google Scholar 

  7. Gonatas NK, Evangelista I, Martin J (1967) A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure. Am J Med 42:169–178

    Google Scholar 

  8. Hug G, Schubert WK (1970) Idiopathic cardiomyopathy. Mitochondrial and cytoplasmatic alterations in heart and liver. Lab Invest 226:541–550

    Google Scholar 

  9. Hübner G, Grantzow R (1983) Mitochondrial cardiomyopathy with involvement of skeletal muscles. Virchows Arch [A] 399:115–125

    Google Scholar 

  10. Hübner G, Gokel JM, Pongratz D, Johannes A, Park JW (1986) Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome. Virchows Arch [A] 408:611–621

    Google Scholar 

  11. Kearns TP (1965) External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy. A newly recognized syndrome. Trans Am Ophthalmol Soc 63:559–625

    Google Scholar 

  12. Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol 60:280–289

    Google Scholar 

  13. Lambert CD, Fairfax AJ (1976) Neurological associations of chronic heart block. J Neurol Neurosurg Psychiatry 39:571–575

    Google Scholar 

  14. Macky EH, Brown RS, Pickering D (1976) Cardiac biopsy in skeletal myopathy: report of a case with myocardial mitochondrial abnormalities. J Pathol 120:35

    Google Scholar 

  15. Marinesco G (1976) Maladies des muscles. Nouveau Traité de Médicine et de Thérapeutique, Fasc. 38, pp 34 and 110. Bailliere, Paris

  16. McComish M, Composton A, Jewitt D (1976) Cardiac abnormalities in chronic progressive external ophthalmoplegia. Br Heart J 38:526–529

    Google Scholar 

  17. Neustein HB, Lurie PR, Dahms B (1979) An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64:24–29

    Google Scholar 

  18. Olson W, Engel WK, Walsh GO, Einaugler R (1972) Oculocraniosomatic neuromuscular disease with “ragged-red” fibers. Histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia. Arch Neurol 26:193–211

    Google Scholar 

  19. Pongratz D, Perwein J, Hübner G, Koppenwallner Ch, Toyka K, Birnberger KL (1979) Wertigkeiten der Skelett-muskelbiopsie bei progressiver externer Ophthalmoplegia. Klin Wochenschr 57:779–788

    Google Scholar 

  20. Rimoin DL, Rotter JI (1982) Genetic syndromes associated with diabetes mellitus and glucose intolerance. In: Köbberling J, Tattersall R (eds) Serono symposium no. 47, The genetics of diabetes mellitus. Academic Press, London New York

    Google Scholar 

  21. Roberts NK, Perloff JK, Kark RAP (1979) Cardiac conduction in the Kearns-Sayre syndrome. Am J Cardiol 44:1396–1400

    Google Scholar 

  22. Schröder JM (1982) Pathologie der Muskulatur. In: Doerr W, Seifert G (eds) Spezielle pathologische Anatomie, vol 15. Springer, Berlin Heidelberg New York, p 279

    Google Scholar 

  23. Shy GM, Silberger DH, Appel SH, Mishkin MM, Godfrey EH (1967) Generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's Disease and Hurler's syndrome. Am J Med 42:163–168

    Google Scholar 

  24. Simopoulos AP, Delea CS, Bartter FC (1971) Neurodegenerative disorders and hyperaldosteronism. J Pediatr 79:633–641

    Google Scholar 

  25. Uppal SC (1973) Kearns syndrome, a new form of cardiomyopathy. Br Heart J 35:766–769

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. II. Medizinische Abteilung — Kardiologie — und Pathologisches Institut am Krankenhaus München-Schwabing, Akademisches Lehrkrankenhaus der Ludwig-Maximilians-Universität München, Germany

    F. X. Kleber, J. -W. Park, A. Johannes & E. König

  2. Pathologisches Institut der Ludwig-Maximilians-Universität München, Germany

    G. Hübner

  3. Friedrich-Bauer-Institut an der Ludwig-Maximilians-Universität München, Germany

    D. Pongratz

Authors
  1. F. X. Kleber
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. -W. Park
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. G. Hübner
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Johannes
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. D. Pongratz
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. E. König
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Supported by the Dr. Sepp and Hanne-Sturm-Stiftung

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kleber, F.X., Park, J.W., Hübner, G. et al. Congestive heart failure due to mitochondrial cardiomyopathy in kearns-sayre syndrome. Klin Wochenschr 65, 480–486 (1987). https://doi.org/10.1007/BF01712843

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01712843

Key words

Search

Navigation