Cardiomyopathies Caused by Pathogenic Variants in the DMD Gene

Abstract

DMD is a gene located on X chromosome that is responsible for the formation of the dystrophin protein. Pathogenic variants in the DMD gene cause diseases such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD is characterized by progressive muscle weakness, leading to loss of motor and respiratory functions, as well as cardiomyopathy and progressive heart failure due to the complete absence of dystrophin in the body. Patients with BMD synthesize a reduced amount of dystrophin, which distinguishes it from DMD by a milder clinical picture and an older age of onset. Cardiomyopathies are a common and, in some cases, the main manifestation of these pathologies. This review focuses on studies of diseases associated with dystrophinopathies, in which the main symptom is heart injury, cardiomyopathy, and also provides information about modern approaches to gene and targeted therapy for these diseases.