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- 01JF5CHR7EAQE7AFDASMZJ4DJ6 classification A1.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 date "2025".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 language "eng".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 type journalArticle.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 hasPart 01JF5CQ33A6M9B1XP9TD7AF382.pdf.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 subject "Medicine and Health Sciences".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 doi "10.1136/jmg-2024-110251".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 issn "0022-2593".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 issn "1468-6244".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 abstract "Background Pathogenic variants in TGFB3 may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in TGFB3-related disease but there are limited outcomes data on vascular events in this condition. Methods Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic/likely pathogenic (P/LP) TGFB3 variants enrolled in the Montalcino Aortic Consortium registry were reviewed. Results 34 individuals (56% male, median age 42 years, IQR 17-49, range 3-74 years) with P/LP TGFB3 variants were studied. Craniofacial, cutaneous and musculoskeletal features seen in Loeys-Dietz syndrome were variably present. Extra-aortic cardiovascular features included arterial tortuosity (25%), extra-aortic arterial aneurysms (6%) and mitral valve prolapse (21%). Aortic dilation (Z-Score>2) was present in 10 individuals (29%) and aortic dissection occurred in 2 (6%). Type A aortic dissection occurred in two patients (aged between 55 years and 60 years), and one of these patients experienced a type B aortic dissection 6 years later. Seven adults (median age 62 years, range 32-69 years) with aortic root dilation (41-49 mm) are being followed. No patients have undergone prophylactic aortic surgery. Twenty-five per cent of children have aortic dilation. Sixty-eight per cent of the entire cohort remains free of aortic disease. No deaths have occurred. Conclusions TGFB3-related HTAD is characterised by late-onset and less penetrant thoracic aortic and arterial disease compared with other transforming growth factor beta HTAD. Based on our data, a larger aortic size threshold for prophylactic aortic surgery is appropriate in patients with TGFB3-related HTAD compared with HTAD due to TGFBR1 or TGFBR2 variants.".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author 2AEC6BC8-40EE-11E3-8914-7C8E10BDE39D.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author FB36A3A4-F0ED-11E1-A9DE-61C894A0A6B4.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:0104ff54-c482-4748-93ae-b9c52345719c.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:0179aea8-58e1-45f6-bf55-0fc7d4801871.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:2921f5ba-c455-4c22-98c6-641458d4b28d.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:3cb5e3fe-9efa-49d2-92bd-25e39adaa7df.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:40987abc-c3a1-466a-ba8c-c5e3ca521233.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:43a71df5-a7d5-43e6-90c4-5120fe7e429c.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:57e29515-8813-4f63-9e3d-ae25bdbc0528.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:596cdee7-7e10-4274-832d-2a013a66b2e6.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:6fc016e2-8c67-42d6-83a7-9cd04ece48c6.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:7d0c0472-b539-4283-9ebd-1b905ca19039.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:8163de06-a4c5-4f2b-9ae7-c40ee318c24e.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:8817a94f-5551-4725-bc03-55c2f8406321.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:8a089746-e0da-4fe9-ad90-a9762b765813.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:91827a84-d0fa-4d3f-996e-92da70a75338.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:92333147-c43b-4cbb-8753-eab0286d9947.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:b477b5fc-c62f-4203-8594-cbb24c58905a.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:b891959f-2778-436b-b928-ede7a3874815.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:bc7c874d-1e2a-4549-9561-8fe61c28b30d.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:bccf1853-abc4-4be8-b1a5-a5fc4f3e6f51.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:c649dad8-c52c-4d3f-91a9-91e89bf20fee.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:e20e711a-b6f1-4dbb-86f1-db3e97bf826c.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 author urn:uuid:f6013421-79d1-4599-b9bc-691fd20439b8.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 dateCreated "2024-12-15T14:46:22Z".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 dateModified "2025-01-14T09:34:44Z".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 name "Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease : results from the Montalcino Aortic Consortium".
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 pagination urn:uuid:ee1cc0d9-9830-4a90-910b-4941c1a41a30.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 sameAs LU-01JF5CHR7EAQE7AFDASMZJ4DJ6.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 sourceOrganization urn:uuid:9d9dc016-5db4-4087-9a17-07abb61912c1.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 sourceOrganization urn:uuid:e92c3f47-80a0-44ec-a67d-01f5e66ff39b.
- 01JF5CHR7EAQE7AFDASMZJ4DJ6 type A1.