Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy

Int J Cardiol. 2015 Feb 15:181:303-10. doi: 10.1016/j.ijcard.2014.12.038. Epub 2014 Dec 13.


Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterised by onset before the age of 20years, progressive external ophthalmoplegia, and pigmentary retinopathy, accompanied by either cardiac conduction defects, elevated cerebrospinal fluid protein or cerebellar ataxia. 50% of patients with KSS develop cardiac complications. The most common cardiac manifestation is conduction disease which may progress to complete atrioventricular block or bradycardia-related polymorphic ventricular tachycardia (PMVT). The management of cardiac electrical disease associated with KSS and mitochondrial cytopathy is systematically reviewed including the case of a 23year-old female patient with KSS who developed a constellation of cardiac arrhythmias including rapidly progressive conduction system disease and monomorphic ventricular tachycardia with myocardial scarring. The emerging role of cardiac magnetic resonance imaging (CMR) in detecting subclinical cardiac involvement is also highlighted. This review illustrates the need for cardiologists to be informed about this rare but emerging condition.

Keywords: Bundle branch block; Heart block; Implantable cardioverter-defibrillator; Kearns–Sayre; Mitochondrial cytopathy; Permanent pacemaker; Sudden death; Ventricular tachycardia.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Electrocardiography / methods
  • Female
  • Humans
  • Kearns-Sayre Syndrome / diagnosis*
  • Kearns-Sayre Syndrome / physiopathology*
  • Kearns-Sayre Syndrome / therapy
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / physiopathology*
  • Mitochondrial Myopathies / therapy
  • Young Adult

Supplementary concepts

  • Mitochondrial cytopathy