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- W2753672452 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 flutter with variable heart block leading to significant 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." @default.
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- W2753672452 date "2017-01-01" @default.
- W2753672452 modified "2023-09-24" @default.
- W2753672452 title "An Unusually Late Presentation of Recurrent Cardiac Syncope in Kearns Sayre Syndrome" @default.
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- W2753672452 doi "https://doi.org/10.4172/2329-9517.1000289" @default.
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