title: Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.
abstract: 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.
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, NSW, Australia; Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: Kabunga
authors.affiliation: Department of Cardiology, Prince of Wales Hospital, Australia; Faculty of Medicine, University of New South Wales, Australia.
authors.forename: Antony K
authors.initials: AK
authors.lastname: Lau
authors.affiliation: Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Kevin
authors.initials: K
authors.lastname: Phan
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, NSW, Australia; Sydney Medical School, University of Sydney, NSW, Australia.
authors.forename: Rajesh
authors.initials: R
authors.lastname: Puranik
authors.affiliation: Sydney Medical School, University of Sydney, NSW, Australia; Department of Neurology, Royal North Shore Hospital, NSW, Australia; Department of Neurogenetics, Royal North Shore Hospital, NSW, Australia.
authors.forename: Christina
authors.initials: C
authors.lastname: Liang
authors.affiliation: Sydney Medical School, University of Sydney, NSW, Australia; Department of Neurology, Royal North Shore Hospital, NSW, Australia; Department of Neurogenetics, Royal North Shore Hospital, NSW, Australia.
authors.forename: Ryan L
authors.initials: RL
authors.lastname: Davis
authors.affiliation: Sydney Medical School, University of Sydney, NSW, Australia; Department of Neurology, Royal North Shore Hospital, NSW, Australia; Department of Neurogenetics, Royal North Shore Hospital, NSW, Australia.
authors.forename: Carolyn M
authors.initials: CM
authors.lastname: Sue
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, NSW, Australia; Sydney Medical School, University of Sydney, NSW, Australia. Electronic address: raymond.sy01@gmail.com.
authors.forename: Raymond W
authors.initials: RW
authors.lastname: Sy
mesh_terms: D004562:Electrocardiography / Q000379:methods; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D055815:Young Adult
keywords: Bundle branch block; Heart block; Implantable cardioverter-defibrillator; Kearns–Sayre; Mitochondrial cytopathy; Permanent pacemaker; Sudden death; Ventricular tachycardia