A Case of Cardiac Regression in a Lebanese Patient with Duchenne Muscular Dystrophy Following the Discontinuation of Ataluren

Abstract

Here we present the case of a 16 years old Lebanese boy diagnosed with a Duchenne muscle dystrophy secondary to a nonsence mutation, with clinical signs appearing by the age of 5 years and followed by the classical deterioration pattern of Duchenne muscle dystrophy. The patient was started on steroids at 6 years of age and was wheelchair bound by the age of 12. The patient was followed with yearly cardiac ultrasounds since the diagnosis that were always within normal limits. At the age of 14, the Ataluren was started on corticoids and then the medication was started at 40 mg/kg/day. After 3 months of treatment with Ataluren, the patient was able to move his lower limbs in a limited range, improvement was noted in his fine motor skills, and he reported decrease in muscle pain and fatigue during physical therapy sessions. The patient had a cardiac ultrasound after 3 months of treatment showing a normal left ventricular function with an ejection fraction of 53% and a left ventricle thickness of 45 mm. The medication was given for 1 year with noted motor improvement and stability of the cardiac function. One year later due to financial reasons the medication was stopped. After 3 months a regular clinical evaluation showed a persistence of the motor gains already acquired during the treatment period but the cardiac ultrasound showed a clear regression of the cardiac function with an increase in the thickness of the left ventricle to 53 mm and a decrease of the ejection fraction to 35% followed by a stabilization for 4 years. This finding highlights the importance of the continuity of treatment with Ataluren and suggests the risk of cardiac regression in case of rapid treatment discontinuation.