A Case of Muscular Dystrophy with Dilated Cardiomyopathy: Do Not Forget Your Basics

IntroductionBecker muscular dystrophy (BMD) is an X-linked recessive disorder with dystrophin mutation. Dilated Cardiomyopathy (DCM) a leading cause of death in BMD patients. Herein, we are presenting patient that initially sought medical attention for acute onset systolic heart failure highlights the importance careful clinical assessment and appropriate work up.Case ReportA 29-year-old male history asthma presented to hospital progressive dyspnea leg swelling. He was diagnosed DCM LVIDD 6.5 cm LV ejection fraction 20-25% by echocardiogram. Coronary angiogram revealed no coronary artery disease. Initial blood electrocardiogram below (Figure). Cardiac MRI showed severely reduced biventricular function near circumferential, sub-epicardial mid-myocardial delayed gadolinium enhancement differential diagnosis included prior myocarditis vs. burnt out sarcoidosis. It subsequently noted began recurrently falling muscle weakness from age 20 years chronically elevated AST CK. His exam notable atrophy bilateral quadriceps muscles, decreased strength calves hypertrophy. Electromyography evidence chronic proximal distal myopathy, predominantly affecting lower extremity. Skeletal biopsy fascicular hypertrophy, focal endomyosial fibrosis increase central nuclei without inflammation or granuloma which most suggestive dystrophy. Genetic testing then completed hemizygous mutation confirming BMD.SummaryBMD has diffuse phenotype should be considered young patients cardiomyopathy CK AST. A thorough history, exam, CMR can assist directing need skeletal subsequent genetic testing. Becker up. BMD.