{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T07:03:00Z","timestamp":1775026980464,"version":"3.50.1"},"reference-count":18,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T00:00:00Z","timestamp":1426118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due to false diagnosis. We published the Kid-Short Marfan Score (Kid-SMS) in 2012 to stratify the pre-test probability of MFS in childhood. Hence we now evaluate the predictive performance of Kid-SMS in a new cohort of children. We prospectively investigated 106 patients who were suspected of having MFS. At baseline, children were examined according to Kid-SMS. At baseline and follow-up visit, diagnosis of MFS was established or rejected using standard current diagnostic criteria according to the revised Ghent Criteria (Ghent-2). At baseline 43 patients were identified with a risk of MFS according to Kid-SMS whereas 21 patients had Ghent-2 diagnosis of MFS. Sensitivity was 100%, specificity 77%, negative predictive value 100% and Likelihood ratio of  Kid-SMS 4.3. During follow-up period, three other patients with a stratified risk for MFS were diagnosed according to Ghent-2. We confirm very good predictive performance of Kid-SMS with excellent sensitivity and negative predictive value but restricted  specificity. Kid-SMS avoids stigmatization due to diagnosis of MFS and thus restriction to  quality of life. Especially outpatient pediatricians and pediatric cardiologists can use it for primary assessment.<\/jats:p>","DOI":"10.3390\/diseases3010024","type":"journal-article","created":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T11:30:24Z","timestamp":1426159824000},"page":"24-33","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Kid-Short Marfan Score (Kid-SMS) Is a Useful Diagnostic  Tool for Stratifying the Pre-Test Probability of Marfan Syndrome in Childhood"],"prefix":"10.3390","volume":"3","author":[{"given":"Veronika","family":"Stark","sequence":"first","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Arndt","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gesa","family":"Harring","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yskert","family":"Von Kodolitsch","sequence":"additional","affiliation":[{"name":"Clinic for Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"Kozlik-Feldmann","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goetz","family":"Mueller","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristoffer","family":"Steiner","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Mir","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Cardiology, University Heart Center, Martinistr. 52, 20251 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2015,3,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan\u2019s syndrome","volume":"366","author":"Judge","year":"2005","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3157","DOI":"10.1002\/ajmg.a.32595","article-title":"The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome","volume":"146","author":"Rybczynski","year":"2008","journal-title":"Am. 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