The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)
The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertr...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2020-11-01
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| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/4115 |
| _version_ | 1826561129449521152 |
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| author | R. P. Myasnikov A. V. Kulikova A. N. Meshkov E. A. Mershina A. V. Kiseleva M. V. Klimushina M. G. Divashuk O. V. Kurilova P. S. Pilyus M. S. Kharlap S. N. Koretsky O. M. Larina V. E. Sinitsyn L. A. Gandaeva V. I. Barsky E. N. Basargina S. A. Boytsov O. M. Drapkina |
| author_facet | R. P. Myasnikov A. V. Kulikova A. N. Meshkov E. A. Mershina A. V. Kiseleva M. V. Klimushina M. G. Divashuk O. V. Kurilova P. S. Pilyus M. S. Kharlap S. N. Koretsky O. M. Larina V. E. Sinitsyn L. A. Gandaeva V. I. Barsky E. N. Basargina S. A. Boytsov O. M. Drapkina |
| author_sort | R. P. Myasnikov |
| collection | DOAJ |
| description | The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertrophic cardiomyopathy and left ventricular non-compaction in family members. Attention is drawn to the various severity of clinical manifestations in relatives of carriers of mutation: from asymptomatic to severe heart failure and acute cerebrovascular accident. |
| first_indexed | 2024-04-09T20:45:54Z |
| format | Article |
| id | doaj.art-aa052b86ac63415ba12b5f05d4c973e4 |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2025-03-14T09:27:16Z |
| publishDate | 2020-11-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj.art-aa052b86ac63415ba12b5f05d4c973e42025-03-02T11:42:52Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202020-11-01251010.15829/1560-4071-2020-41153073The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)R. P. Myasnikov0A. V. Kulikova1A. N. Meshkov2E. A. Mershina3A. V. Kiseleva4M. V. Klimushina5M. G. Divashuk6O. V. Kurilova7P. S. Pilyus8M. S. Kharlap9S. N. Koretsky10O. M. Larina11V. E. Sinitsyn12L. A. Gandaeva13V. I. Barsky14E. N. Basargina15S. A. Boytsov16O. M. Drapkina17National Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineMedical Research and Education Center, Lomonosov Moscow State UniversityNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive Medicine; All-Russian Research Institute of Agricultural Biotechnology, Kurchatov Genomics CenterNational Medical Research Center for Therapy and Preventive MedicineMedical Research and Education Center, Lomonosov Moscow State UniversityNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineMedical Research and Education Center, Lomonosov Moscow State UniversityMedical Research and Education Center, Lomonosov Moscow State UniversityAll-Russian Research Institute of Agricultural Biotechnology, Kurchatov Genomics CenterAll-Russian Research Institute of Agricultural Biotechnology, Kurchatov Genomics CenterAll-Russian Research Institute of Agricultural Biotechnology, Kurchatov Genomics CenterNational Medical Research Center of CardiologyNational Medical Research Center for Therapy and Preventive MedicineThe article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertrophic cardiomyopathy and left ventricular non-compaction in family members. Attention is drawn to the various severity of clinical manifestations in relatives of carriers of mutation: from asymptomatic to severe heart failure and acute cerebrovascular accident.https://russjcardiol.elpub.ru/jour/article/view/4115left ventricular non-compactionhypertrophic cardiomyopathyheart failuresudden cardiac deathfamily formsthromboembolismacute cerebrovascular accidentmybpc3 |
| spellingShingle | R. P. Myasnikov A. V. Kulikova A. N. Meshkov E. A. Mershina A. V. Kiseleva M. V. Klimushina M. G. Divashuk O. V. Kurilova P. S. Pilyus M. S. Kharlap S. N. Koretsky O. M. Larina V. E. Sinitsyn L. A. Gandaeva V. I. Barsky E. N. Basargina S. A. Boytsov O. M. Drapkina The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) Российский кардиологический журнал left ventricular non-compaction hypertrophic cardiomyopathy heart failure sudden cardiac death family forms thromboembolism acute cerebrovascular accident mybpc3 |
| title | The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) |
| title_full | The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) |
| title_fullStr | The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) |
| title_full_unstemmed | The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) |
| title_short | The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037) |
| title_sort | combination of left ventricular non compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the mybpc3 gene rs397516037 |
| topic | left ventricular non-compaction hypertrophic cardiomyopathy heart failure sudden cardiac death family forms thromboembolism acute cerebrovascular accident mybpc3 |
| url | https://russjcardiol.elpub.ru/jour/article/view/4115 |
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