Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome.

Abstract

A right ventricular endomyocardial biopsy specimen from a 30 yr old male with chronic progressive external ophthalmoplegia, retinal pigmentation and complete atrioventricular block (Kearns-Sayre syndrome) was examined in the EM. There was a proliferation of mitochondria between the myofibrils and beneath the sarcolemma. Many mitochondria showed morphologic abnormalities not previously described in this condition. There were associated accumulations of glycogen. A similarly affected female with left anterior hemiblock developed complete atrioventricular block at 26 yr. Despite the ultrastructural changes, clinically detectable myocardial disease is not a feature of Kearns-Sayre syndrome. Intraventricular conduction defects show an unusually rapid progression to potentially fatal complete atrioventricular block and are an indication for prophylactic cardiac pacing.