Congestive heart failure due to mitochondrial cardiomyopathy in kearns-sayre syndrome

Abstract

Despite extensive analysis of the ultrastructural changes in skeletal muscle fibers in chronic progressive external ophthalmoplegia (CPEO), similar changes in the heart muscle fibers of patients with cardiac involvement in CPEO, called Kearns-Sayre syndrome, have not been described in detail. We report the clinical long-term course in a patient with Kearns-Sayre syndrome in whom mitochondrial cardiomyopathy was suspected in vivo and was confirmed at autopsy as the underlying cause of severe dilative cardiomyopathy. Enlarged, abnormally structured, excessively augmented mitochondria and loss of myofibrils could be shown both in skeletal and heart muscle cells.

Leriche-syndrome despite regular sport and non-compaction suggest neuromuscular disease

“…The association of Lerichesyndrome with dCMP has been previously reported [5] as well as the association of coronary artery disease with Leriche-syndrome [6]. More frequently, however, is the association of dCMP and metabolic myopathy [7,8].…”