Duchenne muscular dystrophy and dilated cardiomyopathy with deletion of exon 45 and 49

Abstract A 26-year-old young man presented with paroxysmal chest pain and systemic edema that started 2 years earlier and worsened during the past 2 months. Echocardiogram indicated total heart enlargement as well as severe left and right ventricular systolic dysfunction. MRI revealed atrophy of most muscles in the thigh and calf on both sides. EMG suggested myogenic damage to myoelectrical changes and early recruitment changes. A diagnosis of Duchenne muscular dystrophy (DMD) was established on biopsy and genetic testing showing deletion of exons 45 and 49 of the dystrophin gene. He had no family history of major cardiovascular diseases. The patient disclosed later that muscle weakening started at 7 years of age. Symptoms improved after treatment with a variety of agents to manage heart failure and complications, and was discharged. He survived for 2 years, during which the general condition and heart failure deteriorated progressively. In summary, skeletal muscle weakness is typically the first sign of DMD, but heart involvement is commonly seen later. With the current treatment options, prognosis is poor. Gene therapy might be warranted.