REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION
Aim. To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling.Material and methods. In the group of 37 patients with suspected Marfan syndrome we conducted analysis of coding exones and attach...
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2016-10-01
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| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/950 |
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| author | V. A. Rumyantseva Yu. A. Rogozhina A. A. Bukaeva D. V. Bazarov E. R. Charchyan E. V. Zaklyazminskaya |
| author_facet | V. A. Rumyantseva Yu. A. Rogozhina A. A. Bukaeva D. V. Bazarov E. R. Charchyan E. V. Zaklyazminskaya |
| author_sort | V. A. Rumyantseva |
| collection | DOAJ |
| description | Aim. To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling.Material and methods. In the group of 37 patients with suspected Marfan syndrome we conducted analysis of coding exones and attached enthrones of the gene FBN1 with highly performing sequencing on platform IonTorrent.Results. After mutation screening in the sequences of gene FBN1, in 25 patients we confirmed the Marfan syndrome, and four of genetic mutation carriers did not have complete Ghent criteria. All genetic variants were analyzed and were applied at the stage of surgery planning for maximum radical result of surgical treatment and for medical genetic counseling of the families.Conclusion. The analysis performed, of clinical presentation, surgery indications and spectrum of post-operation complications in Marfan syndrome patients. |
| format | Article |
| id | doaj-art-71eb75d8bfa54a8a8dae90231d2625d6 |
| institution | DOAJ |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| publishDate | 2016-10-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj-art-71eb75d8bfa54a8a8dae90231d2625d62025-08-20T02:59:38Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202016-10-0101071410.15829/1560-4071-2016-10-7-14803REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTIONV. A. Rumyantseva0Yu. A. Rogozhina1A. A. Bukaeva2D. V. Bazarov3E. R. Charchyan4E. V. Zaklyazminskaya5V. B . Petrovskiy Russian National Research Centre of Surgery, Moscow, RussiaV. B . Petrovskiy Russian National Research Centre of Surgery, Moscow, RussiaV. B . Petrovskiy Russian National Research Centre of Surgery, Moscow, RussiaV. B . Petrovskiy Russian National Research Centre of Surgery, Moscow, RussiaV. B . Petrovskiy Russian National Research Centre of Surgery, Moscow, RussiaV. B . Petrovskiy Russian National Research Centre of Surgery, Moscow, RussiaAim. To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling.Material and methods. In the group of 37 patients with suspected Marfan syndrome we conducted analysis of coding exones and attached enthrones of the gene FBN1 with highly performing sequencing on platform IonTorrent.Results. After mutation screening in the sequences of gene FBN1, in 25 patients we confirmed the Marfan syndrome, and four of genetic mutation carriers did not have complete Ghent criteria. All genetic variants were analyzed and were applied at the stage of surgery planning for maximum radical result of surgical treatment and for medical genetic counseling of the families.Conclusion. The analysis performed, of clinical presentation, surgery indications and spectrum of post-operation complications in Marfan syndrome patients.https://russjcardiol.elpub.ru/jour/article/view/950marfan syndromeaortic aneurysminfundibular chest deformityspontaneous pneumothoraxfbn1dna-diagnostics |
| spellingShingle | V. A. Rumyantseva Yu. A. Rogozhina A. A. Bukaeva D. V. Bazarov E. R. Charchyan E. V. Zaklyazminskaya REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION Российский кардиологический журнал marfan syndrome aortic aneurysm infundibular chest deformity spontaneous pneumothorax fbn1 dna-diagnostics |
| title | REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION |
| title_full | REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION |
| title_fullStr | REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION |
| title_full_unstemmed | REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION |
| title_short | REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION |
| title_sort | regular genetic counseling and dna diagnostics of marfan syndrome in the work of federal surgery institution |
| topic | marfan syndrome aortic aneurysm infundibular chest deformity spontaneous pneumothorax fbn1 dna-diagnostics |
| url | https://russjcardiol.elpub.ru/jour/article/view/950 |
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