{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T17:22:27Z","timestamp":1793467347080,"version":"4.5.0"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>\n              The natural history of aortic diseases in patients with\n              <jats:italic>TGFBR1<\/jats:italic>\n              or\n              <jats:italic>TGFBR2<\/jats:italic>\n              mutations reported by different investigators has varied greatly. In particular, the current recommendations for the timing of surgical repair of the aortic root aneurysms may be overly aggressive.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              The Montalcino Aortic Consortium, which includes 15 centers worldwide that specialize in heritable thoracic aortic diseases, was used to gather data on 441 patients from 228 families, with 176 cases harboring a mutation in\n              <jats:italic>TGBR1<\/jats:italic>\n              and 265 in\n              <jats:italic>TGFBR2<\/jats:italic>\n              . Patients harboring a\n              <jats:italic>TGFBR1<\/jats:italic>\n              mutation have similar survival rates (80% survival at 60 years), aortic risk (23% aortic dissection and 18% preventive aortic surgery), and prevalence of extra-aortic features (29% hypertelorism, 53% cervical arterial tortuosity, and 27% wide scars) when compared with patients harboring a\n              <jats:italic>TGFBR2<\/jats:italic>\n              mutation. However,\n              <jats:italic>TGFBR1<\/jats:italic>\n              males had a greater aortic risk than females, whereas\n              <jats:italic>TGFBR2<\/jats:italic>\n              males and females had a similar aortic risk. Additionally, aortic root diameter prior to or at the time of type A aortic dissection tended to be smaller in patients carrying a\n              <jats:italic>TGFBR2<\/jats:italic>\n              mutation and was \u226445 mm in 6 women with\n              <jats:italic>TGFBR2<\/jats:italic>\n              mutations, presenting with marked systemic features and low body surface area. Aortic dissection was observed in 1.6% of pregnancies.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              Patients with\n              <jats:italic>TGFBR1<\/jats:italic>\n              or\n              <jats:italic>TGFBR2<\/jats:italic>\n              mutations show the same prevalence of systemic features and the same global survival. Preventive aortic surgery at a diameter of 45 mm, lowered toward 40 in females with low body surface area,\n              <jats:italic>TGFBR2<\/jats:italic>\n              mutation, and severe extra-aortic features may be considered.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.116.001485","type":"journal-article","created":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T01:57:28Z","timestamp":1479866248000},"page":"548-558","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":198,"title":["International Registry of Patients Carrying\n            <i>TGFBR1<\/i>\n            or\n            <i>TGFBR2<\/i>\n            Mutations"],"prefix":"10.1161","volume":"9","author":[{"given":"Guillaume","family":"Jondeau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Regalado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Braverman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Evangelista","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guisela","family":"Teixedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"De 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