Dilated cardiomyopathy in the structure of Becker’s progressive muscular dystrophy
Abstract
A case of clinical observation of a child having with) dilated cardiomyopathy in the structure of Becker’s progressive muscular dystrophy, complicated by chronic heart failure of the second A degree, the second functional class. The etiology, pathogenesis, clinic, diagnostics, features of differential diagnostics and new approaches to the treatment of progressive neuromuscular dystrophies, which are relevant in pediatric cardiology practice, are reflected.
About the Authors
Y. G. Afonina
Almazov National Medical Research Centre, World-Class Research Centre for Personalized Medicine
Russian Federation
Russian Federation
Afonina Yana G. - clinical resident of the Department of Children’s Diseases with the clinic of the Institute of Medical Education.
Akkuratova str., 2, Saint Petersburg, 197341
E. S. Vasichkina
Almazov National Medical Research Centre, World-Class Research Centre for Personalized Medicine
Russian Federation
Russian Federation
Vasichkina Elena S. - PhD, MD, Head of the Scientific Research Centre for Unknown, Rare and Genetically Caused Diseases of the World-Class Research Centre for Personalized Medicine, Professor of the Department of Pediatric Diseases of the Medical Faculty of the Institute of Medical Education.
Saint Petersburg
A. A. Kostareva
Almazov National Medical Research Centre, World-Class Research Centre for Personalized Medicine
Russian Federation
Russian Federation
Kostareva Anna A. - MD, Director of the Institute of Molecular Biology and Genetics, Associate Professor of the Department of Internal Diseases of the Institute of Medical Education.
Saint Petersburg
T. L. Vershinina
Almazov National Medical Research Centre, World-Class Research Centre for Personalized Medicine
Russian Federation
Russian Federation
Vershinina Tatyana L. - Head of the Department of Pediatric Cardiology and Medical Rehabilitation of the Institute of Perinatology and Pediatric.
Saint Petersburg
T. M. Pervunina
Almazov National Medical Research Centre, World-Class Research Centre for Personalized Medicine
Russian Federation
Russian Federation
Pervunina Tatyana M. - PhD, MD, Director of the Institute of Perinatology and Pediatrics.
Saint Petersburg
D. Alekseeva
Almazov National Medical Research Centre, World-Class Research Centre for Personalized Medicine
Russian Federation
Russian Federation
Alekseeva Darya Yu. - СM, Researcher, Research Institute of Unknown, Rare and Genetically Caused Diseases.
Saint Petersburg
References
1. Tamura T. Management of myocardial damage in muscular dystrophy. J. Brain Nerve 2011;63;11;1217– 1228.
2. Bonne G, et al. Gene table monogenic neuromuscular disorders. Neuromuscular Disordes. 2017;27;1152–1183.
3. Feingold B, Mahle WT, Auerbach S, et al. American Heart Association Pediatric Heart Failure Committee of the Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; Council on Cardiovascular Radiology and Intervention; Council on Functional Genomics and Translational Biology; and Stroke Council. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation. 2017 Sep 26;136(13):e200–e231.
4. Finsterer J, Stöllberger C. Primary myopathies and the heart. Scand Cardiovasc J. 2008 Feb;42(1):9–24.
5. Groznova OS, Rudenskaya GE, Adyan TA, et al. Porazhenie serdtsa pri nasledstvennykh nervnomyshechnykh zabolevaniyakh u detei // Ros vestnik perinatologii i pediatrii. 2014. № 2. In Russian
6. Kamdar F, Garry DJ. Dystrophin-Deficient Cardiomyopathy. J Am Coll Cardiol. 2016 May 31;67(21):2533–46.
7. Evtushenko SK, Shaimurzin MR, Evtushenko OS, et al. Early clinical and instrumental diagnostics and therapy of rapidly and slowly progressing muscular dystrophies and amyotrophies. Mezhdunarodnyj nevrologicheskij zhurnal. 2007; 4; 14; 14–31. In Russian
8. Groznova OS. Cardiomyopathies with progressive muscular dystrophies in children. Differentiated treatment and prevention tactics: avtoreferat dis. doktora med. nauk. Moskva; 2013; 46 s. In Russian
9. Fortunato F, Farnè M, Ferlini A. The DMD gene and therapeutic approaches to restore dystrophin. Neuromuscul Disord. 2021 Oct;31(10):1013–1020.
10. Saad FA, Saad JF, Siciliano G, et al. Duchenne Muscular Dystrophy Gene therapy. Curr Gene Ther. 2022 Nov 18.
11. Maruyama R, Yokota T. Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases. J Pers Med. 2020 Sep 16;10(3):129.
12. Touznik A, Maruyama R, Yokota T. In Vitro Evaluation of Antisense-Mediated Exon Inclusion for Spinal Muscular Atrophy. Methods Mol Biol. 2018;1828:439–454.
13. Kamdar F, Garry DJ. Dystrophin-Deficient Cardiomyopathy. J Am Coll Cardiol. 2016 May 31.
14. Lester G, Femia G, Ayer J, Puranik R. A case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy. Eur Heart J Case Rep. 2019 Jun 1;3(2):ytz055.
15. Del Rio-Pertuz G, Morataya C, Parmar K, et al. Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases. Orphanet J Rare Dis. 2022 May 12;17(1):194.
16. Nolan MA, Jones OD, Pedersen RL, et al. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 2003;13:129.
17. Kaspar RW, Allen HD, Montanaro F. Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. J. Am. Acad Nurse Pract. 2009;21(5):241–9.
18. Groznova OS, Chechuro VV. Lecheniye kardiomiopatiy u bol’nykh progressiruyushchimi myshechnymi distrofiyami. Rossiyskiy vestnik perinatologii i pediatrii. 2011;56;2;58–62. In Russian
19. Chernikova V. Early diagnosis and prediction of the risk of cardiomyopathy in patients with hereditary progressive muscular dystrophy: avtoreferat dis. kandidata med.nauk. Saratov; 2017; 21s. In Russian
20. Groznova OS, Treneva MS. Primeneniye ingibitora angiotenzinprevrashchayushchego fermenta i beta-blokatora u bol’nykh miopatiyey Dyushenna v dlitel’nom katamneze. Rossiyskiy vestnik perinatologii i pediatrii. 2012;57;4;87–89. In Russian
21. Leont’yeva IV. Problema sovremennoy diagnostiki i decheniya dilatatsionnoy kardiomiopatii u detey. Rossiyskiy vestnik penrinatologii i pediatrii. 2018;63;2;7–15. In Russian
22. Del Rio-Pertuz G, Morataya C, Parmar K, et al. Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases. Orphanet J Rare Dis. 2022 May 12;17(1):194.
23. Kishimoto C, Shioji K, Kinashita M, et al. Treatment of acute inflammatory cardiomyopathy with inravenous immunoglobulin amelioraties left ventricular function associated with suppression of inflammatory cytokines and decreased oxidative stress. International J. Cardiology. 2003;91;2–3;173–178].
24. Evtushenko SK, Shaimurzin MR, Evtushenko IS, et al. New modern technologies in the treatment of neuromuscular diseases, aimed at slowing their progression. Collection of materials of the International Scientific and Practical Conference. Sbornic materialov Mezhdunarodnoy nauchno-prakticheskoy konferensii (Khar’kov, 21–23 maya. 2009 g); 5–23. In Russian
Review
For citations:
Afonina Y.G., Vasichkina E.S., Kostareva A.A., Vershinina T.L., Pervunina T.M., Alekseeva D. Dilated cardiomyopathy in the structure of Becker’s progressive muscular dystrophy. Russian Journal for Personalized Medicine. 2023;3(2):127-138. (In Russ.)
Views:
260
Email this article 