{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T10:17:31Z","timestamp":1779272251485,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,5,15]],"date-time":"2009-05-15T00:00:00Z","timestamp":1242345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital heart defects (CHDs) have been estimated to occur in \u223c20% of patients with Brachmann\u2010de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow\u2010up from 5 to 12 years. A cardiac anomaly was identified in 29\/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non\u2010obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11\/28). Isolated late\u2010onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow\u2010up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow\u2010up. We believe that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow\u2010up. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32838","type":"journal-article","created":{"date-parts":[[2009,5,16]],"date-time":"2009-05-16T00:14:38Z","timestamp":1242432878000},"page":"1268-1272","source":"Crossref","is-referenced-by-count":37,"title":["Analysis of congenital heart defects in 87 consecutive patients with Brachmann\u2010de Lange syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Angelo","family":"Selicorni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Maria","family":"Colli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Passarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cereda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Cerutti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Maitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Alloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Salvini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Albina","family":"Galli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Ghiglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Salice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gian Battista","family":"Danzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,15]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"ACC\/AHA\/ASE.2003.Guideline update for the clinical application of echocardiography: summary article. A report of the American College of Cardiology\/American Heart Association task force on practice guidelines (ACC\/AHA\/ASE Committee to update the 1997 guidelines for the clinical application of echocardiography). Committee members: Cheitlin MD Armstrong WF Aurigemma GP Beller GA Bierman FZ Davis JL Douglas PS Faxon DP Gillam LD Kimball TR Kussmaul WG Pearlman AS Philbrick JT Rakowski H Thys DM Antman EM Smith SC Jr Alpert JS Gregoratos G Anderson JL Hiratzka LF Faxon DP Hunt SA Fuster V Jacobs AK Gibbons RJ Russell RO. J Am Soc Echocardiogr 16: 1091\u20131110."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038240"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026666"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025312603880"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/511888"},{"key":"e_1_2_6_7_1","first-page":"33","volume-title":"Perspectives in Pediatric Cardiology Vol 4 \u2010 Epidemiology of congenital heart disease, the Baltimore\u2010Washington infant study, 1981\u20131989","author":"Ferencz C","year":"1993"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02955.x"},{"key":"e_1_2_6_9_1","first-page":"212","volume-title":"Practical statistics for field biology","author":"Fowler J","year":"1992"},{"key":"e_1_2_6_10_1","first-page":"789","volume-title":"The science and practice of pediatric cardiology","author":"Geva T","year":"1998"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/424698"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200306"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470703"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(01)01427-9"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1364"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198805053181802"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<434::AID-AJMG12>3.0.CO;2-H"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1779"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.carpath.2006.02.002"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-004-9012-5"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.2459\/01.JCM.0000247428.51828.51"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80321-9"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30445"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00832.x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1363"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<441::AID-AJMG20>3.0.CO;2-N"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32838","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32838","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:27:31Z","timestamp":1697603251000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32838"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,15]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1002\/ajmg.a.32838"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32838","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,15]]}}}