Cardiomyopathies associated with dystrophinopathies contribute significantly to morbidity and mortality, highlighting the need for cardiovascular therapies, annual imaging, and close follow-up.
Cardiomyopathy is a significant cause of morbidity and mortality in dystrophinopathies, warranting regular cardiovascular imaging and proactive heart failure management.
Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers. The primary presenting symptom in most dystrophinopathies is skeletal muscle weakness. However, cardiac muscle is also a subtype of striated muscle and is similarly affected in many of the muscular dystrophies. Cardiomyopathies associated with dystrophinopathies are an increasingly recognized manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Recent studies suggest that these patient populations would benefit from cardiovascular therapies, annual cardiovascular imaging studies, and close follow-up with cardiovascular specialists. Moreover, patients with DMD and BMD who develop end-stage heart failure may benefit from the use of advanced therapies. This review focuses on the pathophysiology, cardiac involvement, and treatment of cardiomyopathy in the dystrophic patient.
Kamdar et al. (2016) conducted a review in Dystrophin-Deficient Cardiomyopathy. Cardiomyopathies associated with dystrophinopathies contribute significantly to morbidity and mortality, highlighting the need for cardiovascular therapies, annual imaging, and close follow-up.