CARDIAC TRANSPLANTATION IN AN INCOMPLETE KEARNS-SAYRE SYNDROME WITH MITOCHONDRIAL-DNA DELETION

A 38-yr-old man with external ophthalmoplegia, cardiac conduction abnormalities. hearing loss, and ragged-red fibres in skeletal muscle biopsy, developed severe signs of cardiac failure within a few months. Echocardiography and angiography demonstrated a dilated cardiomyopathy. Ubiquinone 140 mg day-1 did not stop the worsening of the cardiac status and cardiac transplantation was performed. Molecular analysis showed a heteroplasmic 4.5 kb mitochondrial DNA deletion in endomyocardial tissue. Eighteen months later, cardiac evolution is good and neurological status is stable.