Myocardial dysfunction in progressive Duchenne/Becker muscular dystrophy: current treatment methods

Authors: Rozhkova A.B.¹, Groznova O.S.¹ ² ⁴, Kovalev I.A.³¹

Company: ¹ Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow, Russian Federation
² Pirogov Russian National Research Medical University, Moscow, Russian Federation
³ Bakoulev National Medical Research Center for Cardiovascular Surgery, Moscow, Russian Federation
⁴ Charity Fund for Medical and Social Genetic Aid Projects “Life Genome”, Moscow, Russian Federation

Cite as: Rozhkova A.B., Groznova O.S., Kovalev I.A. Myocardial dysfunction in progressive Duchenne/Becker muscular dystrophy: current treatment methods. Children’s Heart and Vascular Diseases. 2024; 21 (4): 275–284 (in Russ.). DOI: 10.24022/1810-0686-2024-21-4-275-284

Received / Accepted: 12.11.2024 / 19.12.2024

Keywords: cardiomyopathy Duchenne muscular dystrophy heart failure functional state of the myocardium diagnosis cardioprotective therapy gene therapy innovative clinical studies

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Abstract

Duchenne muscular dystrophy (DMD) is one of the most studied progressive muscular dystrophies, for which intensive development of new pharmacological treatments aimed at correcting a genetic defect and restoring dystrophin expression is underway. The most promising and perspective approaches for therapy are exon skipping and primary editing technology using CRISPR/Cas9. However, despite the effectiveness of new treatment methods, steadily developing cardiomyopathy continues to play an important role in determining the prognosis and life expectancy of patients with DMD, leading to decompensated heart failure and life-threatening rhythm disorders. The progression of cardiomyopathy affects the availability of all new treatments, reducing their effectiveness and overall functional benefit. Therefore, a combined approach is important in the treatment of DMD, including both gene therapy aimed at restoring dystrophin expression and therapy aimed at improving the survival of structurally deficient cardiomyocytes, reducing the severity of myocardial fibrosis and mitigating dystrophic processes. This review examines current views on the concept of the unity of medicinal, surgical and gene therapy methods for the treatment of DMD, the purpose of which is to reduce the severity of myocardial dysfunction.

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About the authors

Anna B. Rozhkova, Postgraduate, Pediatric Cardiologist; ORCID
Olga S. Groznova, Dr. Med. Sci., Professor, Chief Researcher, Director; ORCID
Igor A. Kovalev, Dr. Med. Sci., Professor, Advisor to the Director; ORCID

Chief Editor

Konstantin V. Shatalov
MD, PhD, DSc, Professor
Bakoulev National Medical Research Center for Cardiovascular Surgery

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