SEVERE CARDIAC-FAILURE IN KEARNS-SAYRE-SY NDROME

Mitochondrial disorders are a group of diseases that can affect virtua lly all organ systems. A 19 year old man was seen in 1993 with neurolo gic abnormalities consisting of impaired function of muscles, diplopia , progressive loss of vision, impaired phonation and swallowing, durin g the last 10 years. Physical examination disclosed moderate wasting o f the four limb muscles, mild motor weakness of neck muscles, symmetri cal hyporeflexia, cerebellar dysfunction, severe external ophtalmopleg ia and ptosis. Fundii oculi examination showed retinitis pigmentosa. T he electromyogram demonstrated myopathic changes with normal nerve con duction velocities. The cerebrospinal fluid was normal, except for a m ild increase in lactic acid. Histochemical study of a muscle biopsy sp ecimen demonstrated ragged red fibers and increase of the subsarcolema l oxidative activity of mitochondriae. The diagnosis of Kearns-Sayre d isease was confirmed and he was discharged advising physical therapy. On February 1995, he was again admitted, this time with right cardiac failure and worsening of all his previous symptoms and signs. He compl ained of myalgias and his muscle weakness was more striking on clinica l examination. Echocardiography showed biventricular dilatation and le ft ventricular hypertrophy with preserved systolic function. A new mus cle biopsy revealed an heteroplasmic deletion of 5 Kb with 80% of muta nt mitochondrial DNA. In brief, we report a patient with the clinical phenotype of Kearns-Sayre syndrome who presented an acute congestive c ardiac failure due to cardiomyopathy, an association which has seldom been, reported in the literature.