Classical triad of Kearns-Sayre syndrome.

To cite: Sharma AK, Jain N, Kharwar RB, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016216500 DESCRIPTION We describe the images of a 27-year-old man presenting with recurrent syncope due to complete heart block (figure 1). The patient, on further examination, showed ophthalmoplegia, bilateral ptosis (figure 2) and pigmentary retinopathy (figure 3). Kearns-Sayre syndrome (KSS) is a rare mitochondrial genetic disorder with multisystem involvement. KSS usually presents before the age of 20 years. The triad of external opthalmoplegia, pigmentary retinopathy, and cardiac conduction defects are sufficient to make a confident diagnosis of this rare entity. Cerebrospinal fluid protein of more than 1 g/L or cerebellar ataxia are also important characteristics of KSS. There is no definitive treatment for this condition, but pacemaker implantation can prevent syncope, and reduce morbidity in patients presenting with advanced atrioventricular (AV) conduction abnormalities. Around 57% of patients with KSS have cardiac involvement, including recurrent syncope, bundle branch blocks, fascicular blocks and non-specific intraventricular conduction disturbances. Around 20% of deaths in these patients is attributed to cardiac causes. The American College of Cardiology/American Heart Association/Heart Rhythm Society guidelines give a class I, level of evidence B rating to implantation of pacemakers for third-degree and advanced second-degree AV block at any anatomic level when associated with neuromuscular diseases and AV block. Histopathological examination of the skeletal system characteristically shows ragged red fibres. Endocrinopathies occur commonly in these patients, and around 13% develop diabetes. Although diabetes, hypothyroidism, and parathyroid disorders do occur, our patient did not suffer from these conditions; however, follow-up is needed. Ventricular dysfunction has been reported as a part of neuromuscular disease.