{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:44:53Z","timestamp":1790444693285,"version":"4.1.0"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vascular Ehlers-Danlos syndrome is challenging, and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>All patients seen at a dedicated tertiary referral center for a suspicion of vascular Ehlers-Danlos syndrome between January 2001 and March 2016 were retrospectively included in a diagnostic accuracy study. Major and minor diagnostic criteria of the Villefranche classification were tested for sensitivity, specificity, positive and negative predictive values, according to results of genetic testing.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>N=519 patients were eligible for analysis dividing into n=384 probands and n=135 relatives. A pathogenic COL3A1 variant was identified in n=165 (31.8%) patients. The Villefranche criteria were met for n=248 patients with a sensitivity of 79% (95% CI, 0.72\u20130.85) and a negative predictive value of 87% (95% CI, 0.83\u20130.91). Diagnostic accuracy was highest for symptomatic probands (sensitivity 92%; negative predictive value 95%) with limited specificity (60%). Probands \u226425 years had the worst diagnostic performance. The revised diagnostic Criteria (2017) were less accurate than the Villefranche classification (overall diagnostic odds-ratio, 4.17 versus 7.8; probands diagnostic odds-ratio, 4.04 versus 18.1; and probands \u226425 years diagnostic odds-ratio, 2.36 versus 5.1) mainly due to a lack of sensitivity.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>The Villefranche criteria provide accurate detection of symptomatic probands in specialized practice but have limited specificity. The revised diagnostic criteria for vascular Ehlers-Danlos syndrome have increased specificity, but its overall performance is poorer. The early clinical diagnosis of probands without family history is not addressed by both diagnostic classifications.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgen.117.001996","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T10:50:59Z","timestamp":1553770259000},"source":"Crossref","is-referenced-by-count":16,"title":["Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre"],"prefix":"10.1161","volume":"12","author":[{"given":"Pierrick","family":"Henneton","sequence":"first","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."},{"name":"M\u00e9decine Interne et Maladies Vasculaires, H\u00f4pital Saint-\u00e9loi, Centre Hospitalier R\u00e9gional Universitaire de Montpellier (P.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Albuisson","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."},{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.)."},{"name":"Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, France (J.A., S.A., A.L., X.J., M.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Adham","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."},{"name":"Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, France (J.A., S.A., A.L., X.J., M.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Legrand","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."},{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.)."},{"name":"Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, France (J.A., S.A., A.L., X.J., M.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Michael","family":"Mazzella","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."},{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.)."},{"name":"Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, France (J.A., S.A., A.L., X.J., M.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Frank","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Europ\u00e9en Georges Pompidou, D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.)."},{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale, U970, Paris centre de Recherche Cardiovasculaire-PARCC (J.A., A.L., X.J., M.F.)."},{"name":"Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, France (J.A., S.A., A.L., X.J., 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