Abstract
The prognosis of progressive ophthalmoplegia in patients with large-scale mitochondrial DNA deletions is highly variable and almost unpredictable. The risk to develop cardiac involvement and sudden cardiac death is strikingly high, especially in patients with Kearns–Sayre syndrome (KSS). The most typical cardiac complications of the disease are conduction defects, which usually begin with left anterior fascicular block with or without right bundle branch block (RBBB), progressing sometimes rapidly to complete atrioventricular block. Other cardiac manifestations reported are first or second degree of AV block, QT prolongation, torsades de pointes ventricular tachycardia, and rarely dilated cardiomyopathy. Most frequently syncope, sometimes even sudden cardiac death, is the first clinical sign of the cardiac disease in KSS. Due to these life-threatening cardiac conditions, patients should be carefully monitored for cardiac signs and symptoms and pacemaker implantation should be suggested early to avoid sudden cardiac arrest in KSS.
Here, we present two cases of KSS with life-threatening syncope due to complete atrioventricular block. To emphasize the importance of an early pacemaker implantation, we review the literature on cardiac complications in KSS in the last 20 years. In almost all of the reviewed cases, ophthalmoplegia or ptosis was present before the cardiac manifestations. In most of the cases, syncope was the first symptom of the cardiac involvement. There was no correlation between the age of the onset of the disease and the onset of cardiac manifestations.
With our current report, we increase awareness for life-threatening cardiac complications in patients with KSS.
Competing interests: None declared
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References
Anan R, Nakagawa M, Miyata M, Higuchi I et al (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91:955–961
Chawla S, Coku J, Forbes T, Kannan S (2008) Kearns–Sayre syndrome presenting as complete heart block. Pediatr Cardiol 29:659–662
Finsterer J, Harbo HF, Baets J et al (2009) European federation of neurological sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 16:1255–1264
Gallastegui J, Hariman RJ, Handler B, Lev M, Bharati S (1987) Cardiac involvement in the Kearns–Sayre syndrome. Am J Cardiol 60:385–388
Hara K, Sata T, Shigematsu A (2004) Anesthetic management for cardioverter-defibrillator implantation in a patient with Kearns–Sayre syndrome. J Clin Anesth 16:539–541
Kakura H, Tachibana Y, Nakamura K, Tanaka Y, Sanada J, Arima T (1998) Mitochondrial encephalomyopathy (Kearns–Sayre syndrome) with complete atrioventricular block. Jpn Circ J 62:623–625
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
Katsanos KH, Pappas CJ, Patsouras D et al (2002) Alarming atrioventricular block and mitral valve prolapse in the Kearns–Sayre syndrome. Int J Cardiol 83:179–181
Letsas KP, Efremidis M, Pappas LK, Gavrielatos G, Sideris A, Charitos C (2006) Pathophysiology and management of syncope in Kearns–Sayre syndrome. Am Heart Hosp J 4:301–302
Maceluch JA, Niedziela M (2007) The clinical diagnosis and molecular genetics of Kearns–Sayre syndrome: a complex mitochondrial encephalomyopathy. Pediatr Endocrinol Rev 4:117–137 Review
Oginosawa Y, Abe H, Nagatomo T, Mizuki T, Nakashima Y (2003) Sustained polymorphic ventricular tachycardia unassociated with QT prolongation or bradycardia in the Kearns–Sayre syndrome. Pacing Clin Electrophysiol 26:1911–1912
Polak PE, Zijlstra F, Roelandt RTC (1989) Indications for pacemaker implantation in the Kearns–Sayre syndrome. Eur Heart J 10:281–282
Rahman S, Leonard JV (2000) Early onset of complete heart block in Pearson syndrome. J Inherit Metab Dis 23:753–754
Remes AM, Hassinen IE, Majamaa K, Peuhkurinen KJ (1992) Mitochondrial DNA deletion diagnosed by analysis of an endomyocardial biopsy specimen from a patient with Kearns–Sayre syndrome and complete heart block. Br Heart J 68:408–411
Riera AR, Kaiser E, Levine P et al (2008) Kearns–Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle. J Electrocardiol 41:675–678
Rowland LP, Blake DM, Hirano M et al (1991) Clinical syndromes associated with ragged red fibers. Rev Neurol (Paris) 147:467–473
Skinner JR, Yang T, Purvis D, Chung SK, Roden DM, Rees MI (2007) Coinheritance of long QT syndrome and Kearns–Sayre syndrome. Heart Rhythm 4:1568–1572
Subbiah RN, Kuchar D, Baron D (2007) Torsades de pointes in a patient with Kearns–Sayre syndrome: a fortunate finding. Pacing Clin Electrophysiol 1:137–139
Vardas PE, Auricchio A, Blanc JJ et al (2007) Guidelines for cardiac pacing and cardiac resynchronization therapy. Europace 9:959–998
Welzing L, von Kleist-Retzow JC, Kribs A, Eifinger F, Huenseler C, Sreeram N (2009) Rapid development of life-threatening complete atrioventricular block in Kearns–Sayre syndrome. Eur J Pediatr 168:757–759
Yeşil M, Bayata S, Postaci N, Arikan E (2009) Progression of conduction system disease in a paced patient with Kearns–Sayre syndrome. Clin Cardiol 32:65–67
Young TJ, Shah AK, Lee MH, Hayes DL (2005) Kearns–Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin Electrophysiol 28:454–457 Review
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Communicated by: Shamima Rahman
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van Beynum, I. et al. (2011). Cardiac Arrest in Kearns–Sayre Syndrome. In: JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports, vol 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_32
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DOI: https://doi.org/10.1007/8904_2011_32
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