Journal of Rare Cardiovascular Diseases

Inherited neuromuscular disorders, such as dystrophin-related disorders are frequently associated with cardiac involvement, mainly with cardiomyopathies. Dystrophin-related disorders are caused by the mutation in the dystrophin gene on the X chromosome. Two types of dystrophin-related disorders, namely, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) have been identified. DMD is a more severe form of muscular dystrophy. The cardinal symptoms of DMD are progressive skeletal muscle weakness and respiratory insufficiency due to the weakness of the respiratory muscle, which is the leading cause of premature death. Owing to the improvement in the general and respiratory care of DMD patients, associated cardiovascular abnormalities, mainly cardiomyopathies, are gradually becoming the main cause of comorbidity and mortality in these patients. We present a case of an 18 year-old male with DMD who developed heart failure with reduced ejection fraction due to dilated cardiomyopathy. Although the state-of-the-art treatment was initiated he eventually died from cardiopulmonary decompensation. Based on this case we provide thorough summary on the current knowledge on diagnosis and care of patients with DMD and heart failure.  JRCD 2014; 2 (1): 18–22

cardiomyopathy; Duchenne muscular dystrophy; myopathy; neuromuscular disorder; genetics

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