Volume 5 • Issue 5 • 1000289 J Cardiovasc Dis Diagn, an open access journal ISSN: 2329-9517 Dikowita et al., J Cardiovasc Dis Diagn 2017, 5:5 DOI: 10.4172/2329-9517.1000289 Case Report Open Access *Corresponding author: Dinushi Dilanka Dikowita, Department of Medicine, Teaching Hospital Jaffna, Sri Lanka, Tel: +94 21 2 223348; E-mail: dinushidilankadikowitadikowita@yahoo.com Received June 25, 2017; Accepted July 31, 2017; Published August 07, 2017 Citation: Dikowita DD, Kumanan T, Malaravan M, Guruparan M (2017) An Unusually Late Presentation of Recurrent Cardiac Syncope in Kearns Sayre Syndrome. J Cardiovasc Dis Diagn 5: 289. doi: 10.4172/2329-9517.1000289 Copyright: © 2017 Dikowita DD, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. An Unusually Late Presentation of Recurrent Cardiac Syncope in Kearns Sayre Syndrome Dinushi Dilanka Dikowita 1 *, Thirunavukarasu Kumanan 2 , Muthusamy Malaravan 3 and Mahesan Guruparan 4 1 Department of Medicine, Teaching Hospital Jaffna, Sri Lanka 2 Department of Medicine, Faculty of Medicine, Jaffna, Sri Lanka 3 Department of Ophthalmology, Teaching Hospital Jaffna, Sri Lanka 4 Department of Cardiology, Teaching Hospital Jaffna, Sri Lanka Abstract Background: Kearns Sayre Syndrome (KSS) is a rare mitochondrial disorder with systemic involvement characterised by skeletal, smooth and cardiac muscle dysfunction; pigmentary retinal changes; neurological and endocrine dysfunction. KSS arise from a large-scale deletion of mitochondrial DNA which typically occurs as a sporadic event. Recurrent cardiac syncope is one way of the initial presentation of this syndrome due to involvement of cardiac conduction system. Case presentation: A 51-year-old male, previously well apart from having stable angina for which he was on aspirin and statin, presented to medical casualty with recurrent syncopal episodes with loss of consciousness lasting 3 minutes to 5 minutes and spontaneous recovery after each event. On ocular examination he was found to be have poor vision (best corrected visual acuity in both eyes was 6/60), bilateral posterior subcapsular cataract and both eyes fundus revealed features of retinitis pigmentosa with cystoid macular oedema. A 12 lead electrocardiography (ECG) on admission showed evidence of atrial futter with variable heart block leading to signifcant pauses and the patient underwent permanent pacemaker insertion as he was severely symptomatic. Patient was referred to visual rehabilitation. Conclusion: Mitochondrial myopathy is an important differential diagnosis which needs to be considered in a patient presenting with recurrent cardiac syncope in the context of multisystem involvement. Keywords: Cardiac syncope; Kearns Sayre syndrome Introduction Mitochondria are the intracellular organelles involved in maintaining the aerobic energy metabolism with high yield of ATP production, in order to fulfl the energy requirements of the cell. Terefore any primary dysfunction of the respiratory chain (Krebs cycle) which occurs inside the mitochondria will jeopardize the energy homeostasis of individual cell hence ultimately afecting all metabolically active tissues including muscle tissue. Kearns–Sayre syndrome is a mitochondrial myopathy with widespread multisystem involvement featured by onset before the age of 20, chronic progressive external opthalmoplegia, pigmentary retinopathy and cardiac conduction defects. We describe here a 51-year-old male who presented with recurrent cardiac syncopal episodes with electrocardiographic evidence of life threatening arrhythmias with conduction abnormalities, and simultaneous fnding of marked low vision due to pigmentary retinopathy in the same patient suggesting possible systemic disease such as mitochondrial myopathy. Case Presentation A 51-year-old male presented to the medical casualty ward with a history of recurrent syncopal episodes over the last 4 months duration. Each episode was preceded by chest discomfort, palpitations and syncopal episode with loss of consciousness for less than fve minutes. During each episode he regained consciousness spontaneously and had no neurological defcit aferwards. On further questioning he revealed that he has lost his vision for the last three years and he is dependant on his siblings for day to day activities. Apart from stable angina, for which he was on aspirin 150 mg and atorvastatin 20 mg daily; his past medical history was unremarkable. On examination he was a short statured person (154 cm). Radial pulse on admission was irregular; however he was haemodynamically stable. His 12 lead ECG on admission showed atrial futter with variable block (Figure 1). Troponin I was normal on admission (0.037 ng/ml (<0.15 ng/ml)) and a 2D echocardiography done revealed reasonably good systolic and diastolic lef ventricular function (ejection fraction 60%) with thickened mitral valve; grade lll mitral regurgitation. Following day he underwent 24 hour holter monitoring and it revealed short runs of Ventricular tachycardia (VT) with signifcant pauses (Figure 2). Patient underwent single chamber pacemaker insertion in VVI mode under local anaesthesia and backup rate was set at 60/min and planned for further cardiology follow-up. His ophthalmological assessment further confrmed low vision with best corrected visual acuity (6/60 and 6/60) and revealed evidence of bilateral retinitis pigmentosa (Figure 3). Patient was followed up at ophthalmology clinic and referred to visual rehabilitation. Discussion and Conclusion Kearns-Sayre Syndrome (KSS) is a rare mitochondrial myopathy with heterogeneous clinical presentation. Te classical triad of the syndrome includes external opthalmoplegia, pigmentary retinopathy Journal of Cardiovascular Diseases & Diagnosis J o u r n a l o f C a r d i o v a s c u l a r D i s e a s e s & D i a g n o s i s ISSN: 2329-9517