{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:42:20Z","timestamp":1793662940012,"version":"4.5.1"},"reference-count":57,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:sec>\n            <jats:title>BACKGROUND:<\/jats:title>\n            <jats:p>\n              Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in\n              <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n              . The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>METHODS:<\/jats:title>\n            <jats:p>Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS:<\/jats:title>\n            <jats:p>\n              A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.90), but occurred at a younger age (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.01). A major event occurred more often and at a younger age in men compared with women (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001 and\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.004, respectively). Aortic aneurysms (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.003) and pneumothoraces (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a\n              <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n              variant in the first quarter of the collagen helical domain (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.03).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSIONS:<\/jats:title>\n            <jats:p>\n              Male sex, type and location of the\n              <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n              variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgen.122.003978","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T05:00:44Z","timestamp":1713243644000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":32,"title":["Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients"],"prefix":"10.1161","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5496-4153","authenticated-orcid":true,"given":"Serwet","family":"Demirdas","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., 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