Fatal mitochondrial cardiomyopathy in Kearns-Sayre Syndrome

Summary The clinical and postmortem findings in a 26 year old man with Kearns-Sayre syndrome are described. In the last years of his life he suffered from cardiac arrhythmias and a congestive cardiomyopathy, dying of cardiac pump failure. The heart was enlarged, especially the left ventricle which was fibrotic and excessively dilated. Histological and fine structural investigation revealed an excessive loss of myofibrils and an increase of enlarged mitochondria with lamellar and atypically tubular cristae in widespread heart muscle cells. Mitochondrial anomalies were also observed in some cells of the conductive system. This patient thus suffered not only from a mitochondrial myopathy with ragged red fibers but also from a fatal mitochondrial cardiomyopathy. The anomalies observed in the mitochondria of the conductive system cells suggest that the well-known conductive abnormalities in patients with Kearns-Sayre syndrome might be at least partly caused by disturbed function of these mitochondria.