Abstract
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder characterized by large-scale deletions of mitochondrial DNA. Neuromuscular and cardiac conduction systems are most commonly involved in these patients. Here, we discuss a 10-year-old patient with diabetes mellitus who presented in complete heart block leading to the diagnosis of KSS. The cardiovascular complications of this syndrome are reviewed and discussed.
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References
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 91:955–961
Berenberg RA, Pellock JM, DiMauro S, et al. (1977) Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayre syndrome? Ann Neurol 1:37–54
Gregoratos G, Abrams J, Epstein AE, et al. (2002) ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines). Circulation 106:2145–2161
Harvey JN, Barnett D (1992) Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf) 37:97–103
Karanikis P, Korantzopoulos P, Kountouris E, et al. (2005) Kearns-Sayre syndrome associated with trifascicular block and QT prolongation. Int J Cardiol 101:147–150
Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 60:280–289
Moraes CT, DiMauro S, Zeviani M, et al. (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293–1299
Moraes CT, Ricci E, Petruzzella V, et al. (1992) Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nat Genet 1:359–367
Pavlakis SG, DeVivo DC (1988) Mitochondrial myopathies and encephalomyopathies. In Plum F (ed.), Advances in Contemporary Neurology. Davis, Philadelphia, pp. 95–133
Roberts NK, Perloff JK, Kark RA (1979) Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases. Am J Cardiol 44:1396–1400
Shanske S, Moraes CT, Lombes A, et al. (1990) Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology 40:24–28
Young TJ, Shah AK, Lee MH, et al. (2005) Kearns-Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin Electrophysiol 28:454–457
Acknowledgments
We thank Dr. Ashok Sarnaik for his valuable comments and review of the manuscript and Dr. Sara Shanske for her help and advice regarding the genetic studies.
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Chawla, S., Coku, J., Forbes, T. et al. Kearns-Sayre Syndrome Presenting as Complete Heart Block. Pediatr Cardiol 29, 659–662 (2008). https://doi.org/10.1007/s00246-007-9040-z
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DOI: https://doi.org/10.1007/s00246-007-9040-z