THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES
Aim. The assessment of clinical presentation of HCMP in patients having mutations of the sarcomere protein genes.Material and methods. In 11 patients with hypertrophic cardiomyopathy (HCMP) we performed analysis of clinical and instrumental data and search for mutations of coding sequences of the ge...
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2016-01-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/630 |
| _version_ | 1797856928422952960 |
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| author | S. M. Komissarova N. N. Chakova S. S. Niyazova S. V. Kazakov E. A. Zhukova A. V. Aleksandrov O. S. Glotov A. S. Glotov |
| author_facet | S. M. Komissarova N. N. Chakova S. S. Niyazova S. V. Kazakov E. A. Zhukova A. V. Aleksandrov O. S. Glotov A. S. Glotov |
| author_sort | S. M. Komissarova |
| collection | DOAJ |
| description | Aim. The assessment of clinical presentation of HCMP in patients having mutations of the sarcomere protein genes.Material and methods. In 11 patients with hypertrophic cardiomyopathy (HCMP) we performed analysis of clinical and instrumental data and search for mutations of coding sequences of the genes ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2 и TPM1 via the sequencing method (next-generation sequencing (NGS).Results. The clinical presentation is described, of HCMP, and the analysis provided of the complications development during the period of follow-up of the patients with genes coding sarcomere proteins: Arg403Trp, Lys847del and Arg1712Trp (gene MYH7); Gln1233Term, Trp1214Arg, Arg502Gln, Arg326Gln and Ser236Gly (gene MYBPC3); Arg58Gln in gene MYL2.Conclusion. The revealed mutations in sarcomere genes in patients with HCMP are associated with early clinical onset of the disease, with worse family anamnesis and development of complications during follow-up. |
| first_indexed | 2024-04-09T20:48:29Z |
| format | Article |
| id | doaj.art-1b9214cbd7ed4af988cf176de52aee19 |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2024-04-09T20:48:29Z |
| publishDate | 2016-01-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj.art-1b9214cbd7ed4af988cf176de52aee192023-03-29T21:23:25Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202016-01-0101202510.15829/1560-4071-2016-1-20-25574THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENESS. M. Komissarova0N. N. Chakova1S. S. Niyazova2S. V. Kazakov3E. A. Zhukova4A. V. Aleksandrov5O. S. Glotov6A. S. Glotov7Republic Scientific-Practical Center “Cardiology”, Minsk, BelorussiaInstitute of Genetics and Cytology of NSA of Belorussia, Minsk, BelorussiaInstitute of Genetics and Cytology of NSA of Belorussia, Minsk, BelorussiaSaint-Petersburg National Research University of Information Technologies, Mechanics and Optics, Saint-Petersburg, RussiaFSBSI The Research Institute of Obstetrics, Gynecology and Reproductology n.a. D. O. Ott, Saint-Petersburg, RussiaSaint-Petersburg National Research University of Information Technologies, Mechanics and Optics, Saint-Petersburg, RussiaFSBSI The Research Institute of Obstetrics, Gynecology and Reproductology n.a. D. O. Ott, Saint-Petersburg, Russia Saint-Petersburg State University, Saint-Petersburg, RussiaFSBSI The Research Institute of Obstetrics, Gynecology and Reproductology n.a. D. O. Ott, Saint-Petersburg, Russia Saint-Petersburg State University, Saint-Petersburg, RussiaAim. The assessment of clinical presentation of HCMP in patients having mutations of the sarcomere protein genes.Material and methods. In 11 patients with hypertrophic cardiomyopathy (HCMP) we performed analysis of clinical and instrumental data and search for mutations of coding sequences of the genes ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2 и TPM1 via the sequencing method (next-generation sequencing (NGS).Results. The clinical presentation is described, of HCMP, and the analysis provided of the complications development during the period of follow-up of the patients with genes coding sarcomere proteins: Arg403Trp, Lys847del and Arg1712Trp (gene MYH7); Gln1233Term, Trp1214Arg, Arg502Gln, Arg326Gln and Ser236Gly (gene MYBPC3); Arg58Gln in gene MYL2.Conclusion. The revealed mutations in sarcomere genes in patients with HCMP are associated with early clinical onset of the disease, with worse family anamnesis and development of complications during follow-up.https://russjcardiol.elpub.ru/jour/article/view/630hypertrophic cardiomyopathysequencing of the next generationsarcomere genesmutationsclinical presentation |
| spellingShingle | S. M. Komissarova N. N. Chakova S. S. Niyazova S. V. Kazakov E. A. Zhukova A. V. Aleksandrov O. S. Glotov A. S. Glotov THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES Российский кардиологический журнал hypertrophic cardiomyopathy sequencing of the next generation sarcomere genes mutations clinical presentation |
| title | THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES |
| title_full | THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES |
| title_fullStr | THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES |
| title_full_unstemmed | THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES |
| title_short | THE SPECIFICS OF HYPERTROPHIC CARDIOMYOPATHY CLINICAL PRESENTATION IN PATIENTS WITH VARIOUS MUTATIONS OF SARCOMERE GENES |
| title_sort | specifics of hypertrophic cardiomyopathy clinical presentation in patients with various mutations of sarcomere genes |
| topic | hypertrophic cardiomyopathy sequencing of the next generation sarcomere genes mutations clinical presentation |
| url | https://russjcardiol.elpub.ru/jour/article/view/630 |
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