Screening cardiomyopathic changes in asymptomatic patients with Duchenne muscular dystrophy / Erini Farid Fawzy Ibrahim ; Supervised Omneya Gamal Eldin Afify , Reem Ibrahim Esmail , Hanan Zekri Khaled

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy that occurs in 1 in 3500 male births. Due to a mutation in the protein dystrophin, patients with DMD develop progressive muscle weakness and lose the ability to walk between 10 and 12 years of age. In the second decade of life, respiratory and cardiac muscle diseases become significant contributors to the disease progression and quality of life. In most centers, individuals affected with DMD obtain echocardiograms after symptoms of heart failure begin. The patients who develop dilated cardiomyopathy remain asymptomatic until later stages of heart failure which accounts for their delayed diagnosis. Hence, the concept of early referral and a noninvasive imaging approach that identifies early disease could be a more useful methodology with better long-term outcomes. Methods: Observational study included twenty-eight Duchenne patients with a mean age of 8 years (4 to 13 years) and 29 age matched healthy controls. The patient were recruited from the neuromuscular disorders clinic, Cairo university Children hospital (CUCH), from April 2015 to January 2016)

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