Title : Symptomatic complete heart block with syncope in a young patient - A case of kearns-sayre syndrome
Abstract:
Background: Kearns-Sayre Syndrome (KSS) is a mitochondrial encephalomyopathy that often manifests before the patient reaches the age of 20 and is defined by the triad of increasing external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction system abnormalities. Around 50% of patients develop conductive abnormalities that can ultimately lead to a complete atrioventricular block or bradycardia-related polymorphic ventricular tachycardia.
Case Report: A 26-year-old male presented to our emergency department with history of syncope 10 days back. His ECG revealed Mobitz type II second degree AV Block with RBBB, an ECG done 2 days back revealed complete heart block. On clinical examination, bilateral ptosis and reduced extraocular movements were observed. His echocardiography and Cardiac MRI scanning were normal. MRI Brain done previously revealed bilateral optic nerve thinning, bilateral symmetrical extraocular muscles atrophy and significant atrophy of brain parenchyma more marked in bilateral occipital lobes, and a skeletal muscle biopsy was unremarkable. The fundus examination was suggestive of bilateral pigmentary retinopathy.
Discussion: A diagnosis of Kearns-Sayre Syndrome (KSS) was made based on the clinical triad of progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction system disturbances, which in this case was the presence of AV block. He subsequently underwent an MRI compatible dual chamber permanent pacemaker implantation via the transvenous route and he is doing well with no further syncopal episodes at 2-month follow-up.
