Heart failure in Duchenne's progressive muscular dystrophy (case report)

Abstract

Progressive Duchenne muscular dystrophy is a common X-linked recessive myopathy caused by a mutations in the gene encoding dystrophin. Duchenne muscular dystrophy is characterized by damage to the heart muscle with conduction and rhythm disturbances, and the development of dilated cardiomyopathy, which may be asymptomatic. The development of heart failure determines the unfavorable prognosis of patients with Duchenne muscular dystrophy. Insufficient awareness of physicians about the characteristics of heart damage in Duchenne muscular dystrophy creates the prerequisites for describing interesting clinical observations. The article presents a clinical observation of the development of dilated cardiomyopathy and heart failure with a low left ventricular ejection fraction in a 19-year-old male patient with Duchenne muscular dystrophy. The dynamics of Duchenne muscular dystrophy progression from the moment of diagnosis to the development of decompensated heart failure are described. The article presents clinical course data, laboratory parameters, electrocardiography and echocardiography data in dynamics. The article presents diagnostic criteria for Duchenne muscular dystrophy, prospects for therapy aimed at correcting the genetic defect by replacing, modifying or reparating the dystrophin gene. The presented case demonstrates the need for a personalized multidisciplinary approach to a patient with Duchenne muscular dystrophy, with the participation of an orthopedic surgeon, pulmonologist, cardiologist, endocrinologist, and ophthalmologist.