Cardiac involvement is common, and usually manifested as atrio-ventricular conduction blocks.
We report a patient with a lethal dilated cardiomyopathy due to a mtDNA deletion. The patient was a 27 years old man without family history of neuromuscular or cardiac disease. He showed body weight and height deviation from 7 years of age and increasing difficulties at school. Investigation at 15 years of age showed a normal CT of the brain but EEG showed slowing of background activity. The patient also suffered from intermittent gastrointestinal pain and obstruction.