Cardiomyopathy in a patient with Duchenne dystrophy

Keywords: Duchenne dystrophy, cardiomyopathy, creatine phosphokinase, dystrophin

Abstract

Progressive Duchenne muscular dystrophy is a genetic disease with an incidence rate of 1:5000 in males. It occurs as a result of a mutation in the Duchenne muscular dystrophy gene, responsible for the synthesis of the dystrophin protein, which is most often localized in skeletal muscles and myocardium. Cardiological manifestations of this disease include progressive hypertrophic and dilated cardiomyopathy, as well as various arrhythmias that can lead to death. Echocardiography and electrocardiography are used as diagnostic methods for cardiac manifestations of progressive Duchenne muscular dystrophy; fewer sensitive methods include determining the level of creatine phosphokinase, troponin I and other laboratory parameters. Our work describes a clinical case of a patient with a confirmed diagnosis of progressive Duchenne dystrophy and diagnosed cardiomyopathy at the age of 15 years. The disease is progressive in nature with an unfavorable prognosis.

Author Biographies

E.V. Reznik, Pirogov Russian National Research Medical University; City Clinical Hospital № 31 named after G.M. Savelieva, Moscow

Dr. Med. Sci., Associate Professor, Head of the Department of Internal Disease Propedeutics № 2, Terapevt, Cardiologist, Functional Diagnostician, Physician of Ultrasonic Diagnostics, Clinical Pharmacologist

E.А. Khachirova, Pirogov Russian National Research Medical University; City Clinical Hospital № 31 named after G.M. Savelieva, Moscow

Cand. Med. Sci., Associate Professor

M.D. Iarovoi, Pirogov Russian National Research Medical University

Student

G.N. Golukhov, City Clinical Hospital № 31 named after G.M. Savelieva, Moscow

Dr. Med. Sci., Corresponding Member of the Russian Academy of Sciences

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Published
2025-07-01
Section
Клинические случаи