{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T14:48:28Z","timestamp":1772462908134,"version":"3.50.1"},"reference-count":30,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T00:00:00Z","timestamp":1289520000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951110001587_abs1\" sec-type=\"intro\"><jats:title>Introduction<\/jats:title><jats:p>Ellis \u2013 van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart. Despite patients with Ellis \u2013 van Creveld syndrome being regarded as having a high surgical risk, few data are available regarding their outcomes following surgery for congenital malformations of the heart in the current era.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951110001587_abs2\" sec-type=\"materialsandmethods\"><jats:title>Materials and methods<\/jats:title><jats:p>In this retrospective report, we summarise the clinical observations and outcomes of nine infants with Ellis \u2013 van Creveld syndrome who underwent surgery for congenital malformations of the heart between 2004 and 2009.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951110001587_abs3\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>We identified 15 patients with Ellis \u2013 van Creveld syndrome during the study period; 11 (73%) had haemodynamically significant congenital malformations of the heart warranting surgery. In two of these patients, surgery was not performed. Of the nine patients who underwent surgery, all of whom were infants, eight (89%) had various forms of an atrioventricular septal defect and one patient (11%) had hypoplastic left heart syndrome (mitral and aortic atresia). Among the nine patients who underwent surgery, four (44%) died at a median of 102 days with a range of 25\u2013149 days post-operatively, mostly from respiratory failure. Respiratory morbidity was seen in all surviving patients, of whom three underwent tracheostomy.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951110001587_abs4\" sec-type=\"conclusion\"><jats:title>Conclusions<\/jats:title><jats:p>Surgery for congenital malformations of the heart can be successful in infants with Ellis \u2013 van Creveld syndrome, but mortality is high and post-operative respiratory morbidity should be expected.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951110001587","type":"journal-article","created":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T11:10:59Z","timestamp":1289560259000},"page":"145-152","source":"Crossref","is-referenced-by-count":17,"title":["Contemporary management of congenital malformations of the heart in infants with Ellis \u2013 van Creveld syndrome: a report of nine cases"],"prefix":"10.1017","volume":"21","author":[{"given":"Matthew J.","family":"O\u2019Connor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas L.","family":"Rider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"II","given":"R.","family":"Thomas Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian D.","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Holmes Morton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin A.","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2010,11,12]]},"reference":[{"key":"S1047951110001587_ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30226"},{"key":"S1047951110001587_ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-27"},{"key":"S1047951110001587_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/0003-4975(96)00179-8"},{"key":"S1047951110001587_ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-0991-3"},{"key":"S1047951110001587_ref26","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32962"},{"key":"S1047951110001587_ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.01.004"},{"key":"S1047951110001587_ref10","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990604)84:4<350::AID-AJMG8>3.0.CO;2-E"},{"key":"S1047951110001587_ref6","doi-asserted-by":"publisher","DOI":"10.1038\/73508"},{"key":"S1047951110001587_ref12","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0022-5223(19)36064-7","article-title":"Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down\u2019s syndrome","volume":"91","author":"De Biase","year":"1986","journal-title":"J Thorac Cardiovasc Surg"},{"key":"S1047951110001587_ref28","first-page":"646","volume-title":"Moss and Adams\u2019 Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult","author":"Cetta","year":"2008"},{"key":"S1047951110001587_ref2","first-page":"306","article-title":"Dwarfism in the Amish I. 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