Diagnostics of inherited connective tissue disorders: achievements and future directions
The paper reviews general factors underlying the variety of clinical manifestations of inherited connective tissue disorders (ICTD). The authors make an attempt to harmonise the existing ICTD terminology with the standard international classification. It is proposed to use the Russian term “dysplasi...
Saved in:
| Main Authors: | , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
«FIRMA «SILICEA» LLC
2013-08-01
|
| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/402 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849688769894023168 |
|---|---|
| author | E. V. Zemtsovskyi E. G. Malev S. V. Reeva E. B. Luneva N. N. Parfenova M. Yu. Lobanov E. L. Belyaeva E. V. Vyutrikh E. V. Timofeev T. I. Belousova O. A. Bergmane B. I. Zaripov A. L. Korshunova I. A. Pankova |
| author_facet | E. V. Zemtsovskyi E. G. Malev S. V. Reeva E. B. Luneva N. N. Parfenova M. Yu. Lobanov E. L. Belyaeva E. V. Vyutrikh E. V. Timofeev T. I. Belousova O. A. Bergmane B. I. Zaripov A. L. Korshunova I. A. Pankova |
| author_sort | E. V. Zemtsovskyi |
| collection | DOAJ |
| description | The paper reviews general factors underlying the variety of clinical manifestations of inherited connective tissue disorders (ICTD). The authors make an attempt to harmonise the existing ICTD terminology with the standard international classification. It is proposed to use the Russian term “dysplasia” as a synonym of ICTD and to divide all ICTD into inherited syndromes (IS) and dysplastic phenotypes. An example of fibrillinopathies is used to consider the clinical polymorphism and genetic heterogeneity of IS. The clinical significance of Marfanoid habitus as a phenotype is also discussed. |
| format | Article |
| id | doaj-art-125360b2b6194b859ccdc4d1e23aefef |
| institution | DOAJ |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| publishDate | 2013-08-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj-art-125360b2b6194b859ccdc4d1e23aefef2025-08-20T03:21:51Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202013-08-0104384310.15829/1560-4071-2013-4-38-43402Diagnostics of inherited connective tissue disorders: achievements and future directionsE. V. Zemtsovskyi0E. G. Malev1S. V. Reeva2E. B. Luneva3N. N. Parfenova4M. Yu. Lobanov5E. L. Belyaeva6E. V. Vyutrikh7E. V. Timofeev8T. I. Belousova9O. A. Bergmane10B. I. Zaripov11A. L. Korshunova12I. A. Pankova13V.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. Petersburg; St. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. PetersburgV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. Petersburg; St. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. PetersburgV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. Petersburg; St. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaSt. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaSt. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaSt. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. Petersburg; St. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaSt. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaSt. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. Petersburg; St. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. Petersburg; St. Petersburg State Medical Pediatrics University, St. Petersburg, RussiaV.A. Almazov Federal Centre of Heart, Blood, and Endocrinology, St. PetersburgThe paper reviews general factors underlying the variety of clinical manifestations of inherited connective tissue disorders (ICTD). The authors make an attempt to harmonise the existing ICTD terminology with the standard international classification. It is proposed to use the Russian term “dysplasia” as a synonym of ICTD and to divide all ICTD into inherited syndromes (IS) and dysplastic phenotypes. An example of fibrillinopathies is used to consider the clinical polymorphism and genetic heterogeneity of IS. The clinical significance of Marfanoid habitus as a phenotype is also discussed.https://russjcardiol.elpub.ru/jour/article/view/402inherited connective tissue disordersinherited dysplastic syndromes and phenotypesmitral valve prolapsemarfanoid habitus |
| spellingShingle | E. V. Zemtsovskyi E. G. Malev S. V. Reeva E. B. Luneva N. N. Parfenova M. Yu. Lobanov E. L. Belyaeva E. V. Vyutrikh E. V. Timofeev T. I. Belousova O. A. Bergmane B. I. Zaripov A. L. Korshunova I. A. Pankova Diagnostics of inherited connective tissue disorders: achievements and future directions Российский кардиологический журнал inherited connective tissue disorders inherited dysplastic syndromes and phenotypes mitral valve prolapse marfanoid habitus |
| title | Diagnostics of inherited connective tissue disorders: achievements and future directions |
| title_full | Diagnostics of inherited connective tissue disorders: achievements and future directions |
| title_fullStr | Diagnostics of inherited connective tissue disorders: achievements and future directions |
| title_full_unstemmed | Diagnostics of inherited connective tissue disorders: achievements and future directions |
| title_short | Diagnostics of inherited connective tissue disorders: achievements and future directions |
| title_sort | diagnostics of inherited connective tissue disorders achievements and future directions |
| topic | inherited connective tissue disorders inherited dysplastic syndromes and phenotypes mitral valve prolapse marfanoid habitus |
| url | https://russjcardiol.elpub.ru/jour/article/view/402 |
| work_keys_str_mv | AT evzemtsovskyi diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT egmalev diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT svreeva diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT ebluneva diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT nnparfenova diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT myulobanov diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT elbelyaeva diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT evvyutrikh diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT evtimofeev diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT tibelousova diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT oabergmane diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT bizaripov diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT alkorshunova diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections AT iapankova diagnosticsofinheritedconnectivetissuedisordersachievementsandfuturedirections |