Journal of Rare Cardiovascular Diseases

Kearns-Sayre Syndrome is a multisystemic mitochondrial cytopathy characterized by specific ophthalmic signs, cardiac conduction disturbances with endocrine, musculoskeletal and central nervous system involvement. As a highly heterogeneous condition, establishing an accurate diagnosis of this disorder can often be seriously delayed. It usually occurs before the age of 20 with ocular symptoms at first. Cardiac manifestations include progressive degeneration of the conduction tissue, leading to different types of conduction disturbances, which in many cases are responsible for significant decrease of life expectancy. There is currently no causative therapy available for Kearns-Sayre Syndrome patients. Several interventions including ophthalmic or neurological may be necessary in order to improve the quality of life, however improving prognosis in this group of patients impose prompt recognitions of those, who require early pacemaker implantation. Therefore, the aim of this article is to review the current knowledge about Kearns-Sayre Syndrome in light of the most typical ophthalmic findings, which can handily be detected by cardiologists and applied to accelerate accurate diagnosis and elaborate the most appropriate therapeutic strategies. JRCD 2016; 3 (1): 5–8

rare disease; mitochondrial cytopathy; sudden cardiac death; pigmented retinopathy; ophthalmoplegia; ptosis; cardiac pacing; electrocardiography

Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 1958; 60: 280–289.

Finsterer J. Mitochondriopathies. Eur J Neurol. 2004; 11: 163–86.

Chinnery PF. Mitochondrial Disorders Overview. 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet], University of Washington, Seattle; 1993–2016.

Limbes A. Kearns-Sayre syndrome [Internet]. Orphanet 2014 [Cited on 06 Sep 2016]. Available from: www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=480

Leveille AS, Newell FW. Autosomal dominant Kearns-Sayre syndrome. Ophthalmology 1980; 87: 99–108.

Bernal JE, Winz O, Tamayo M. The Kearns-Sayre syndrome in three members of a consanguineous Colombian family. In: Vogel F, Sperling K, editors. Proceedings of the Seventh International Congress on Human Genetics. Berlin, Germany: Springer-Verlag; 1986.

Porteous WK, James AM, Sheard PW, et al. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem 1998; 257: 192–201.

DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2016. [Cited on 06 Sep 2016] Available from: www.ncbi.nlm.nih.gov/books/NBK1203/

DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993; 50: 1197–1208.

Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10: 118–126.

Cohen BH, Gold DR. Mitochondrial cytopathyin adults: What we know so far. Cleveland Clin J Med 2001; 68: 625 – 642.

Ogasahara S, Nishikawa Y, Yorifuji S, et al. Treatment of Kearns–Sayre syndrome with coenzyme Q10. Neurology 1986; 36: 45–53.

Gobu P, Karthikeyan B, Prasath A, et al. Kearns-Sayre Syndrome (KSS) – A Rare Cause For Cardiac Pacing. Indian Pacing Electrophysiol J 2010; 10: 547–550.

Khambatta S, Nguyen DL, Beckman TJ, et al. Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med 2014; 7: 325–332.

Schwatzkoff BB, Frenzel H, Losse B, et al. Heart involvement in Progressive external ophthalmoplegia (Kearns-Sayre syndrome) Electrophysiologic, hemodynamic and morphologic findings. Journal of Cardiology 1986; 75: 161.

Rashid A, Kim MH. Kearns-Sayre syndrome- Association with long QT syndrome? J Cardiovasc Electrophysiol 2002; 13: 184.

Gregoratos G, Abrams J, Epstein AE, et al. ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article. A report of the ACC/AHA Task Force guidelines. Circulation 2002; 106: 2145 – 2148.

Park SB, Ma KT, Kook KH, et al. Kearns-Sayre Syndrome. 3 Case Reports and Review of Clinical Feature. Yonsei Med J 2004; 45: 727–735.

Kański JJ, Bowling B. Clinical Ophthalmology, 4th Edition, Elsevier Urban & Partner, Wrocław 2013; 1:40, 15: 639–43, 19: 839–840.

Sebastiá R, Fallico E, Fallico M, et al. Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. Clinical Ophthalmology 2014; 9: 25–31.

Zheng A, Li Y, Tsang SH. Personalized therapeutic strategies for patients with retinitis pigmentosa. Expert opinion on biological therapy 2015; 15: 391–402.

Sacchetti M, Mantelli F, Merlo D, et al. Systematic Review of Randomized Clinical Trials on Safety and Efficacy of Pharmacological and Nonpharmacological Treatments for Retinitis Pigmentosa. Journal of Ophthalmology 2015; 1 – 11.

Berenberg RA, Pellock JM, DiMauro S, et al. Lumping or splitting? Ophthalmoplegia plus or Kearns-Sayre Syndrome? Annal Neurol 1977; 1:37–54.