Cardiac Involvement in Kearns-Sayre Syndrome

  • B. Schwartzkopff
  • G. Breithardt
  • M. Borggrefe
  • B. Lösse
  • K.-V. Toyka
  • H. Frenzel
Conference paper

Abstract

Progressive external ophthalmoplegia (PEO) is accompanied by a progressive weakness of the external muscles of the eyes. It was first described by Albrecht von Graefe in 1866 [20]. First believed to be of neurogenic origin, it was not until 1951 that Kiloh and Nevin [30] suggested that the ocular signs were due to a myopathy as they in one case found histological abnormalities in the medial rectus muscle.

Keywords

Lactate Retina Pyruvate Folate Neurol 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Allen RJ, DiMauro S, Coulter DL, Papadimitriou A, Rothenberg S (1983) Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Ann Neurol 13: 679–682PubMedCrossRefGoogle Scholar
  2. 2.
    Askanas V, Engel WK, Britton DE, Adornato BT, Eiben RM (1978) Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis. Arch Neurol 35: 801–809PubMedCrossRefGoogle Scholar
  3. 3.
    Barth PG, Scholte HR, Berden JA, van der Klei JM, Luyt-Houven IEM, van’t veer-Korthof ET, van der Horten JJ, Sobotka-Plojhar MA (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 62: 327–355PubMedCrossRefGoogle Scholar
  4. 4.
    Bastiaensen LAK, Joosten EMG, Rooij JAM, Hommes OR, Stadhouders AM, Jaspar HHJ, Veerkamp JH, Bockelman H, van Heinsbergh VWM (1978) Ophthalmoplegia-plus, a real nosological entity. Acta Neurol Scand 58: 9–34PubMedCrossRefGoogle Scholar
  5. 5.
    Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, Hays A, Viscale CT, Behrens M, Chutorian A, Rowland LP (1977) Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayre syndrome? Ann Neurol 1: 37–54PubMedCrossRefGoogle Scholar
  6. 6.
    Bogousslavsky J, Perentes E, Deruaz JP, Regli F (1982) Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts. J Neurol Sci 55: 351–357PubMedCrossRefGoogle Scholar
  7. 7.
    Castaigne P, Lhermitte F, Escourolle R, Chain F, Fardeau M, Hauw JJ, Curet J, Flavigny C (1977) Etude anatomo-clinique d’une observation d’“ophthalmoplegia plus” avec analyse des lesions musculaires, nerveuses centrales, oculaires, myocardiaques et thyroidiennes. Rev Neurol 133: 368–369Google Scholar
  8. 8.
    Charles R, Holt S, Kay JM, Epstein EJ, Russell RJ (1981) Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. Circulation 63: 214–219PubMedCrossRefGoogle Scholar
  9. 9.
    Clark DS, Myerburg RJ, Morales RR, Befeler B, Hernandez FA, Gelband H (1975) Heartblock in Kearns-Sayre syndrome, electrophysiologic-pathologic correlation. Chest 68: 727–730CrossRefGoogle Scholar
  10. 10.
    Coulter DC, Allen RJ (1981) Abrupt neurological deterioration in children with Kearns-Sayre syndrome. Arch Neurol 38: 247–250PubMedCrossRefGoogle Scholar
  11. 11.
    Daroff RB, Solitare GB, Pincus JH, Glaser GH (1966) Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy. Neurology 16: 161–170PubMedCrossRefGoogle Scholar
  12. 12.
    Denis B, Morena H, Rossignol B, Machecourt J, Sebag M, Stoebner P, Martin-Noel P (1976) Association d’une ophtalmoplegie externe progressive et d’une myocardiopathie avec bloc auriculoventriculaire complet. Arch Mal Coeur 69: 747–752PubMedGoogle Scholar
  13. 13.
    Dhingra RC, Wyndham CR, Bauernfeind R, Swiryn S, Deedwania PC, Smith T, Denes P, Rosen KM (1979) Significance of block distal to His bundle induced by atrial pacing in patients with chronic bifascicular block. Circulation 60: 1455–1464PubMedCrossRefGoogle Scholar
  14. 14.
    Dini P, Ialongo D, Adinolfi E, Alboni P, Malavarne C, Lotto A, Finzi A, Pagnoni F, Baldi N, Morgera T, Gronda M, Rognoni G, Occhetta E, D’Aulerio M (1982) Prognostic value of Hisventricular conduction after Ajmalin administration. In: Masoni GA, Alboni P (eds) Cardiac electrophysiology today. Academic, London, pp 515–522Google Scholar
  15. 15.
    Drachman DA (1982) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18: 654–681CrossRefGoogle Scholar
  16. 16.
    Egger J, Lake BD, Wilson J (1981) Mitochondrial cytopathy. A multisystem disorder with ragged red fibers on muscle biopsy. Arch Dis Child 56: 741–748PubMedCrossRefGoogle Scholar
  17. 17.
    Estrabrook RW, Pullman ME (1967) Oxidation and phosphorylation. In: Colowick SP, Kaplan NO (eds) Methods in enzymology, vol 10. Academic, London, pp 215–250Google Scholar
  18. 18.
    Fauchier JP, Monpère C, Latour F, Neel C, Cosnay P, Brochier M (1983) Bloc auriculoventriculaire aucours d’un syndrome Ju Kearns et Sayre. Arch Mal Coeur 18: 295–303Google Scholar
  19. 19.
    Fukuhara N, Tokiguchi S, Shirakawa S, Tsubaki T (1980) Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or syndrome? Light and electron microscopic studies of two cases and review of the literature. J Neurol Sci 47: 117–133PubMedCrossRefGoogle Scholar
  20. 20.
    von Graefe A (1866) Bemerkungen über doppelseitige Augenmuskellähmung basilaren Ursprungs. Albrécht Graefes Arch 12: 265–277Google Scholar
  21. 21.
    Hammerstein W, Mortier W, Noack EM, Frenzel H, Liebert HJ, Toyka KV, Horstkotte D, Bischof J, Weber U (1983) Klinische, morphologische und biochemische Befunde beim Kearns-Sayre-Syndrom. Fortschr Ophthalmol 80: 193–200PubMedGoogle Scholar
  22. 22.
    Horwitz SJ, Roessmann U (1978) Kearns-Sayre Syndrome with hypoparathyroidism. Ann Neurol 3: 513–518PubMedCrossRefGoogle Scholar
  23. 23.
    Hübner G, Grantzow R (1983) Mitochondrial cardiomyopathy with involvement of skeletal muscles. Virchows Arch [A] 399: 115–125Google Scholar
  24. 24.
    Hübner G, Gokel JM, Pongratz D, Johannes A, Park JW (1986) Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome. Virchows Arch [A] 408: 611–621CrossRefGoogle Scholar
  25. 25.
    Hug G, Schubert WK (1970) Idiopathic cardiomyopathy. Mitochondrial and cytoplasmatic alterations in heart and liver. Lab Invest 22: 541–552PubMedGoogle Scholar
  26. 26.
    Jager BV, Fred HV, Butler RB, Carnes WH (1960) Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case with findings at autopsy. Am J Med 29: 888–893PubMedCrossRefGoogle Scholar
  27. 27.
    Karpati G, Carpenter S, Larbrisseau, Lafontaine R (1973) The Kearns-Shy-Syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. J Neurol Sci 19: 133–151PubMedCrossRefGoogle Scholar
  28. 28.
    Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block. AMA Arch Ophthal 60: 280–289CrossRefGoogle Scholar
  29. 29.
    Kearns TP (1965) External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, a newly recognized syndrome. Trans Am Ophthalmol Soc 63: 559–568PubMedGoogle Scholar
  30. 30.
    Kiloh LJ, Nevin S (1951) Progressive dystrophy of the external ocular muscles (ocular myopathy). Brain 74: 115–143PubMedCrossRefGoogle Scholar
  31. 31.
    Kleber FX, Park JW, Hübner G, Johannes A, Pongratz D, König E (1987) Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre Syndrome. Klin Wochensehr 65: 480–486CrossRefGoogle Scholar
  32. 32.
    Kulbertus HE (1976) Re-evaluation of the prognosis of patients with LAP-RBBB. Am Heart J 92: 665–672PubMedCrossRefGoogle Scholar
  33. 33.
    Langes K, Frenzel H, Seitz RJ, Kluitmann J (1985) Cardiomyopathy associated with Leigh’s disease. Virchow Arch [A] 407: 97–105CrossRefGoogle Scholar
  34. 34.
    Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B (1962) A case of severe hypermetabolism of nonthyroid origin with defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J Clin Invest 41: 1776–1804PubMedCrossRefGoogle Scholar
  35. 35.
    Lösse B, Kuhn H (1982) Belastungsuntersuchungen bei Patienten mit Kardiomyopathie. Herz 7: 91–102PubMedGoogle Scholar
  36. 36.
    DiMauro S, Bouilla E, Zeviani M, Nakagawa M, DeVivo DC (1985) Mitochondrial myopathies. Ann Neurol 17: 521–538CrossRefGoogle Scholar
  37. 37.
    Mackay EH, Brown RS, Pickering D (1976) Cardiac biopsy in skeletal myopathy: Report of a case with myocardial mitochondrial abnormalities. J Pathol 120: 35–42PubMedCrossRefGoogle Scholar
  38. 38.
    McComish M, Compston A, Jewitt D (1976) Cardiac abnormalities in chronic progressive external ophthalmoplegia. Br Heart J 38: 526–529PubMedCrossRefGoogle Scholar
  39. 39.
    Morgan Hughes JA, Darveniza P, Kahn SN, Landon DN, Sherratt RM, Laud JM, Clark JB (1977) A mitochondrial myopathy characterized by a deficiency in reducible cytochrome B. Brain 100: 617–640PubMedCrossRefGoogle Scholar
  40. 40.
    Morriss JH, Engster GS, Nora JJ, Pryor R (1972) His bundle recording in progressive external ophthalmoplegia. J Pediatr 81: 1167–1170PubMedCrossRefGoogle Scholar
  41. 41.
    Müller-Höcker H, Johannes A, Droste M, Kadenbach B, Pongratz D, Hübner G (1986) Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytoehrome-coxidase in cardiac and skeletal muscle. Virchows Arch [B] 52: 353–367CrossRefGoogle Scholar
  42. 42.
    Neustein HB, Lurie PR, Dahms B, Takahashi M (1979) An x-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64: 24–29PubMedGoogle Scholar
  43. 43.
    Nicbrój-Dobosz J, Rypiewicz B, Fidzianska A, Badurska B (1985) Lipid storage myopathy in Kearns-Sayre syndrome. Neurology 35: 1582–1586CrossRefGoogle Scholar
  44. 44.
    Ogasahara S, Nishikawa Y, Yorifugi S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S (1986) Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 36: 45–53PubMedCrossRefGoogle Scholar
  45. 45.
    Olson W, Engle WK, Walsh GO, Einaugler R (1972) Oculocraniosomatic neuromuscular disease with ragged-red fibers. Arch Neurol 26: 193–211PubMedCrossRefGoogle Scholar
  46. 46.
    Pavlakis SG, Phillips PC, DiMauro S, DeVivo DC, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes: a distinctive clinical syndrome. Ann Neurol 16: 481–488PubMedCrossRefGoogle Scholar
  47. 47.
    Pellock JM, Behrens M, Lewis L, Holub LD, Carter S, Rowland LP (1978) Kearns-Sayre syndrome and hypoparathyroidism. Ann Neurol 3: 455–458PubMedCrossRefGoogle Scholar
  48. 48.
    Pongratz D, Perwein J, Hübner G, Koppenwallner C, Toyka KV, Birnberger KL (1979) Wertigkeit der Skelettmuskelbiopsie bei progressiver externer Ophthalmoplegic. Klin Wochenschr 57: 779–788PubMedCrossRefGoogle Scholar
  49. 49.
    Rheuban KS, Ayres NA, Sellers D, DiMarco JP (1983) Near-fatal Kearns-Sayre syndrome. Clin Pediatr (Phila) 22: 822–825CrossRefGoogle Scholar
  50. 50.
    Roberts NI, Perloff JK, Kark RAP (1979) Cardiac conduction in the Kearns-Sayre syndrome. Am J Cardiol 44: 1396–1400PubMedCrossRefGoogle Scholar
  51. 51.
    Rowland LP, Hays AP, DiMauro S, DeVivo DC, Behrens M (1985) Diverse clinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato G, Cerri C (eds) Mitochondrial pathology in muscle disease. Piccin Medical Books, Padova, pp 142–158Google Scholar
  52. 52.
    Rowland LP (1983) Molecular genetics, pseudogenetics and clinical neurology. Neurology 33: 1179–1195PubMedCrossRefGoogle Scholar
  53. 53.
    Sandifer PH (1946) Chronic progressive ophthalmoplegia of myopathic origin. J Neurol Neurosurg Psychiatry 9: 81–83PubMedCrossRefGoogle Scholar
  54. 54.
    Schnitzler ER, Robertson EC (1977) Familial Kearns-Sayre syndrome. Neurology 29: 1172–1174CrossRefGoogle Scholar
  55. 55.
    Schwartzkopff B, Deckert M, Frenzel H (1987) Strukturanomalien der Mitochondrien des Herzmuskels beim Kearns-Sayre Syndrom (KSS). Z Kardiol [Suppl] 1:18Google Scholar
  56. 56.
    Schwartzkopff B, Frenzel H, Lösse B, Borggrefe M, Toyka KV, Hammerstein W, Seitz R, Deckert M, Breithardt G (1986) Herzbeteiligung bei progressiver externer Ophthalmoplegic (Kearns-Sayre Syndrom). Z Kardiol 75: 161–169PubMedGoogle Scholar
  57. 57.
    Shy GM, Silberberg DH, Appel SH, Mishkin MM, Godfrey EH (1967) A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum’s disease and Hurler’s syndrome. Am J Med 42: 163–178PubMedCrossRefGoogle Scholar
  58. 58.
    Uppal SC (1973) Kearns syndrome, a new form of cardiomyopathy. Br Heart J 35: 766–769PubMedCrossRefGoogle Scholar
  59. 59.
    Yorifugi S, Oyasahara S, Takahashi M, Tarui S (1985) Decreased activities in mitochondrial inner membrane electron transport system in muscle from patients with Kearns-Sayre syndrome. J Neurol Sci 71: 65–75CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • B. Schwartzkopff
  • G. Breithardt
  • M. Borggrefe
  • B. Lösse
  • K.-V. Toyka
  • H. Frenzel

There are no affiliations available

Personalised recommendations