Génétique des anévrismes de l’aorte thoracique (notice n° 277611)
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|---|---|
| fixed length control field | 03154cam a2200313 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250117194734.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Cadenet, Margaux |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Génétique des anévrismes de l’aorte thoracique |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2022.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 23 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Résumé L’anévrisme de l’aorte thoracique correspond à la dilatation de la partie ascendante de l’aorte pouvant aller jusqu’à la dissection (TAAD pour Thoracic Aortic Aneurysm and Dissection), voire la rupture aortique. Les étiologies sont diverses mais dans environ 20 % des cas, l’origine est génétique. Une trentaine de gènes au total ont été rapportés comme étant responsables du développement de TAAD. La majorité de ces gènes codent pour des protéines impliquées dans la matrice extracellulaire, la contraction des cellules musculaires lisses ou la voie de signalisation du facteur de croissance TGF-β. Identifier le variant pathogène responsable de la maladie aortique permet de poser un diagnostic définitif, d’orienter, voire de personnaliser la prise en charge des patients et permet le dépistage des apparentés à risque. La disponibilité et l’accès aux tests génétiques se sont considérablement améliorés avec le développement de nouvelles techniques de séquençage (NGS pour Next Generation Sequencing) et l’utilisation de panels de gènes. Cette revue résume les principaux gènes associés aux TAAD, ainsi que la stratégie diagnostique actuelle. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | The thoracic aortic aneurysm corresponds to the dilation of the ascending part of the aorta, which can lead to a dissection (TAAD for Thoracic Aortic Aneurysm and Dissection) or aortic rupture. The etiologies are diverse, but in approximately 20% of cases a genetic origin is found. About thirty genes are reported to be responsible for the development of TAAD. The majority of these genes encode for proteins involved in the extracellular matrix, the contraction of smooth muscle cells or the growth factor TGF-β signaling pathway. Identifying the pathogenic variant responsible for the aortic disease becomes essential to make a definitive diagnosis, to guide and to personalize the treatment of the patients but also to screen relatives at risk. The availability and access to genetic testing have improved considerably with the development of new sequencing techniques (NGS for Next Generation Sequencing) and the use of gene panels. This review summarizes the main genes associated with TAAD as well as the current diagnostic strategy. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | TAAD |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | TGF-β |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | syndrome de Marfan |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | anévrismes aorte thoracique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | génétique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | genetics |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | TAAD |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | TGF-β |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Marfan syndrome |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | thoracic aortic aneurysms |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanna, Nadine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnaud, Pauline |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 80 | 4 | 2022-07-01 | p. 344-354 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-annales-de-biologie-clinique-2022-4-page-344?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-annales-de-biologie-clinique-2022-4-page-344?lang=fr&redirect-ssocas=7080</a> |
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