<i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy
Genetic cardiomyopathies (CMP) are a group of diseases characterized by myocardial pathology not caused by hypertension, coronary artery disease, congenital and acquired defects. Development of imaging methods and molecular genetic diagnostics showed that the traditional phenotypic classification do...
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| Format: | Article |
| Language: | Russian |
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«SILICEA-POLIGRAF» LLC
2025-02-01
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| Series: | Кардиоваскулярная терапия и профилактика |
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| Online Access: | https://cardiovascular.elpub.ru/jour/article/view/4257 |
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| author | D. A. Nefedova R. P. Myasnikov O. V. Kulikova O. M. Drapkina |
| author_facet | D. A. Nefedova R. P. Myasnikov O. V. Kulikova O. M. Drapkina |
| author_sort | D. A. Nefedova |
| collection | DOAJ |
| description | Genetic cardiomyopathies (CMP) are a group of diseases characterized by myocardial pathology not caused by hypertension, coronary artery disease, congenital and acquired defects. Development of imaging methods and molecular genetic diagnostics showed that the traditional phenotypic classification does not fully meet modern needs due to the presence of clinical, morphological and genotypic "crossing" of CMP. At the same time, in recent years, data have been obtained showing that the genetic substrate has a significantly higher prognostic value compared to the phenotype and plays a significant role in risk stratification and the choice of patient management tactics, as well as in family screening. Taken together, this has led to a shift in focus from phenotypic features to genotype as the basis for modern classifications of cardiomyopathy. One example of such a genotype-specific approach is the identification of cardiomyopathy associated with MYBPC3 gene variants as an independent entity. The aim of the article was to describe the role of MYBPC3 gene and the cardiac myosin-binding protein C encoded by it in cardiomyocyte function, to present current literature data on pathogenesis, clinical features and developing strategies for MYBPC3cardiomyopathy treatment, as well as to highlight current problems and directions for future research in this area. |
| format | Article |
| id | doaj-art-33c443733a954481b7bf9baad9dbd4fe |
| institution | Matheson Library |
| issn | 1728-8800 2619-0125 |
| language | Russian |
| publishDate | 2025-02-01 |
| publisher | «SILICEA-POLIGRAF» LLC |
| record_format | Article |
| series | Кардиоваскулярная терапия и профилактика |
| spelling | doaj-art-33c443733a954481b7bf9baad9dbd4fe2025-08-04T12:50:33Zrus«SILICEA-POLIGRAF» LLCКардиоваскулярная терапия и профилактика1728-88002619-01252025-02-01231210.15829/1728-8800-2024-42573130<i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapyD. A. Nefedova0R. P. Myasnikov1O. V. Kulikova2O. M. Drapkina3National Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineGenetic cardiomyopathies (CMP) are a group of diseases characterized by myocardial pathology not caused by hypertension, coronary artery disease, congenital and acquired defects. Development of imaging methods and molecular genetic diagnostics showed that the traditional phenotypic classification does not fully meet modern needs due to the presence of clinical, morphological and genotypic "crossing" of CMP. At the same time, in recent years, data have been obtained showing that the genetic substrate has a significantly higher prognostic value compared to the phenotype and plays a significant role in risk stratification and the choice of patient management tactics, as well as in family screening. Taken together, this has led to a shift in focus from phenotypic features to genotype as the basis for modern classifications of cardiomyopathy. One example of such a genotype-specific approach is the identification of cardiomyopathy associated with MYBPC3 gene variants as an independent entity. The aim of the article was to describe the role of MYBPC3 gene and the cardiac myosin-binding protein C encoded by it in cardiomyocyte function, to present current literature data on pathogenesis, clinical features and developing strategies for MYBPC3cardiomyopathy treatment, as well as to highlight current problems and directions for future research in this area.https://cardiovascular.elpub.ru/jour/article/view/4257mybpc3cmybp-ccardiac myosin-binding protein chypertrophic cardiomyopathycardiomyopathyfibrosisheart failureventricular tachycardiasudden cardiac deathgene therapy |
| spellingShingle | D. A. Nefedova R. P. Myasnikov O. V. Kulikova O. M. Drapkina <i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy Кардиоваскулярная терапия и профилактика mybpc3 cmybp-c cardiac myosin-binding protein c hypertrophic cardiomyopathy cardiomyopathy fibrosis heart failure ventricular tachycardia sudden cardiac death gene therapy |
| title | <i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy |
| title_full | <i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy |
| title_fullStr | <i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy |
| title_full_unstemmed | <i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy |
| title_short | <i>MYBPC3</i>-associated cardiomyopathy: features of the course and prospects for specific therapy |
| title_sort | i mybpc3 i associated cardiomyopathy features of the course and prospects for specific therapy |
| topic | mybpc3 cmybp-c cardiac myosin-binding protein c hypertrophic cardiomyopathy cardiomyopathy fibrosis heart failure ventricular tachycardia sudden cardiac death gene therapy |
| url | https://cardiovascular.elpub.ru/jour/article/view/4257 |
| work_keys_str_mv | AT danefedova imybpc3iassociatedcardiomyopathyfeaturesofthecourseandprospectsforspecifictherapy AT rpmyasnikov imybpc3iassociatedcardiomyopathyfeaturesofthecourseandprospectsforspecifictherapy AT ovkulikova imybpc3iassociatedcardiomyopathyfeaturesofthecourseandprospectsforspecifictherapy AT omdrapkina imybpc3iassociatedcardiomyopathyfeaturesofthecourseandprospectsforspecifictherapy |