Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction
Left ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clini...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2021-11-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/4748 |
| _version_ | 1797856664385224704 |
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| author | O. V. Kulikova R. P. Myasnikov A. N. Meshkov M. M. Kudryavtseva E. A. Mershina A. V. Kiseleva M. G. Divashuk M. S. Kharlap S. N. Koretsky V. E. Sinitsyn O. M. Drapkina |
| author_facet | O. V. Kulikova R. P. Myasnikov A. N. Meshkov M. M. Kudryavtseva E. A. Mershina A. V. Kiseleva M. G. Divashuk M. S. Kharlap S. N. Koretsky V. E. Sinitsyn O. M. Drapkina |
| author_sort | O. V. Kulikova |
| collection | DOAJ |
| description | Left ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clinical and phenotypic manifestations. As a result of a molecular genetic testing, all family members with the LVNC phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive. In the international scientific literature, isolated clinical cases of LVNC development with variants of the FLNC gene nucleotide sequence are presented. In our work, we present a case report of LVNC with a variety of clinical manifestations within the same family. |
| first_indexed | 2024-04-09T20:44:08Z |
| format | Article |
| id | doaj.art-1500037c6a8848898de5e870a5d3a46e |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2024-04-09T20:44:08Z |
| publishDate | 2021-11-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj.art-1500037c6a8848898de5e870a5d3a46e2023-03-29T21:23:39Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202021-11-01261010.15829/1560-4071-2021-47483410Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compactionO. V. Kulikova0R. P. Myasnikov1A. N. Meshkov2M. M. Kudryavtseva3E. A. Mershina4A. V. Kiseleva5M. G. Divashuk6M. S. Kharlap7S. N. Koretsky8V. E. Sinitsyn9O. M. Drapkina10National 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 MedicineMedical Research and Educational Center of Lomonosov Moscow State UniversityNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive Medicine; Kurchatov Genomics Center, All-Russian Research Institute of Agricultural BiotechnologyNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineMedical Research and Educational Center of Lomonosov Moscow State UniversityNational Medical Research Center for Therapy and Preventive MedicineLeft ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clinical and phenotypic manifestations. As a result of a molecular genetic testing, all family members with the LVNC phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive. In the international scientific literature, isolated clinical cases of LVNC development with variants of the FLNC gene nucleotide sequence are presented. In our work, we present a case report of LVNC with a variety of clinical manifestations within the same family.https://russjcardiol.elpub.ru/jour/article/view/4748left ventricular non-compactionatherosclerosisheart failuresudden cardiac deathfamilial formsthromboembolismstrokefilamin cflnc |
| spellingShingle | O. V. Kulikova R. P. Myasnikov A. N. Meshkov M. M. Kudryavtseva E. A. Mershina A. V. Kiseleva M. G. Divashuk M. S. Kharlap S. N. Koretsky V. E. Sinitsyn O. M. Drapkina Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction Российский кардиологический журнал left ventricular non-compaction atherosclerosis heart failure sudden cardiac death familial forms thromboembolism stroke filamin c flnc |
| title | Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction |
| title_full | Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction |
| title_fullStr | Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction |
| title_full_unstemmed | Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction |
| title_short | Variant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction |
| title_sort | variant of the i flnc i gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non compaction |
| topic | left ventricular non-compaction atherosclerosis heart failure sudden cardiac death familial forms thromboembolism stroke filamin c flnc |
| url | https://russjcardiol.elpub.ru/jour/article/view/4748 |
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