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Cardiomyopathy in a patient with Duchenne dystrophy

Authors: Reznik E.V.1 2, Khachirova E.А.1 2, Iarovoi M.D.1, Golukhov G.N.2

Company: 1 Pirogov Russian National Research Medical University, Moscow, Russian Federation
2 City Clinical Hospital № 31 named after G.M. Savelieva, Moscow, Russian Federation

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Type:  Case reports


DOI: https://doi.org/10.24022/1997-3187-2025-19-2-241-248

For citation: Reznik E.V., Khachirova E.А., Iarovoi M.D., Golukhov G.N. Cardiomyopathy in a patient with Duchenne dystrophy. Creative Cardiology. 2025; 19 (2): 241–248 (in Russ.). DOI: 10.24022/1997-3187-2025-19-2-241-248

Received / Accepted:  17.03.2025 / 27.03.2025

Keywords: Duchenne dystrophy cardiomyopathy creatine phosphokinase dystrophin



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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.

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About Authors

  • Elena V. Reznik, Dr. Med. Sci., Associate Professor, Head of the Department of Internal Disease Propedeutics № 2, Terapevt, Cardiologist, Functional Diagnostician, Physician of Ultrasonic Diagnostics, Clinical Pharmacologist; ORCID
  • Elvira A. Khachirova, Cand. Med. Sci., Associate Professor; ORCID
  • Maksim D. Iarovoi, Student; ORCID
  • Georgy N. Golukhov, Dr. Med. Sci., Corresponding Member of the Russian Academy of Sciences; ORCID

Chief Editor

Elena Z. Golukhova, MD, PhD, DSc, Professor, Academician of Russian Academy of Sciences, Director of Bakoulev National Medical Research Center for Cardiovascular Surgery


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