{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T13:15:55Z","timestamp":1776431755994,"version":"3.51.2"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T00:00:00Z","timestamp":1736467200000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"KAKENHI","doi-asserted-by":"publisher","award":["21K08860"],"award-info":[{"award-number":["21K08860"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>A partial atrioventricular septal defect (AVSD) with a hypoplastic left ventricle and common atrium is a rare combination of cardiac anomalies that can be associated with Ellis\u2013van Creveld (EVC) syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A female neonate with EVC syndrome was diagnosed with an unbalanced AVSD and hypoplastic left ventricle. Pulmonary artery banding and ductus ligation were performed at 23 days after birth. The postoperative course was complicated by moderate atrioventricular valve (AVV) regurgitation and low cardiac output. On postoperative Day 6, emergent extracorporeal membrane oxygenation (ECMO) was performed to treat acute circulatory failure. Under suspicion of systemic ventricular outflow tract obstruction, the Damus\u2013Kaye\u2013Stansel procedure with a systemic-to-pulmonary artery shunt and AVV plasty were performed. Intraoperatively, no ventricular septal defect was found. The right and left AVV orifices were found to be separated. Postoperatively, the patient could not be weaned from cardiopulmonary bypass and continued to receive ECMO support. Eight days postoperatively, a right ventricle-to-pulmonary artery shunt and division of the systemic-to-pulmonary artery shunt were performed to increase the pulmonary blood flow. On postoperative Day 5, the ECMO was successfully removed under continuous infusion of adrenalin, but the patient died of severe renal failure 4 days later. The parents consented to autopsy. The heart was permanently preserved by perfusion\u2013distention fixation and wax infiltration.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>We reported a rare combination of cardiac defects of common atrium, partial AVSD, and hypoplastic left ventricle associated with EVC syndrome. Accurately diagnosing the presence of ventricular septal defect is essential part in determining surgical treatment strategy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytaf005","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T09:04:12Z","timestamp":1736499852000},"source":"Crossref","is-referenced-by-count":1,"title":["A case report of a rare cardiac anomaly associated with Ellis\u2013van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0570-8513","authenticated-orcid":false,"given":"Takashi","family":"Kido","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Surgery, Osaka University Graduate School of Medicine , Suita, Osaka 565-0871 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuhei","family":"Toba","sequence":"additional","affiliation":[{"name":"Department of Thoracic and Cardiovascular Surgery, Mie University Graduate School of Medicine , Tsu, Mie 514-8507 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takato","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"Department of Thoracic and Cardiovascular Surgery, Mie University Graduate School of Medicine , Tsu, Mie 514-8507 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7161-2045","authenticated-orcid":false,"given":"Dai","family":"Asada","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Osaka Women\u2019s and Children\u2019s Hospital , Izumi, Osaka 594-1101 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8767-6905","authenticated-orcid":false,"given":"Sanae","family":"Tsumura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Osaka Women\u2019s and Children\u2019s Hospital , Izumi, Osaka 594-1101 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,1,10]]},"reference":[{"key":"2025012717483990400_ytaf005-B1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1017\/S1047951113001819","article-title":"Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis\u2013van Creveld syndrome","volume":"25","author":"O'Connor","year":"2015","journal-title":"Cardiol Young"},{"key":"2025012717483990400_ytaf005-B2","doi-asserted-by":"crossref","first-page":"107404","DOI":"10.1016\/j.carpath.2021.107404","article-title":"Perfusion\u2013distention fixation of heart specimens: a key step in immortalizing heart specimens for wax infiltration and generating 3D imaging data sets for reconstruction and printed 3D models","volume":"58","author":"Yamasaki","year":"2022","journal-title":"Cardiovasc Pathol"},{"key":"2025012717483990400_ytaf005-B3","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/73508","article-title":"Mutations in a new gene in Ellis\u2013van Creveld syndrome and Weyers acrodental dysostosis","volume":"24","author":"Ruiz-Perez","year":"2000","journal-title":"Nat Genet"},{"key":"2025012717483990400_ytaf005-B4","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1017\/S1047951110001587","article-title":"Contemporary management of congenital malformations of the heart in infants with Ellis\u2013van Creveld syndrome: a report of nine cases","volume":"21","author":"O'Connor","year":"2011","journal-title":"Cardiol Young"},{"key":"2025012717483990400_ytaf005-B5","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1007\/s00246-011-0006-9","article-title":"Ellis\u2013van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases","volume":"32","author":"Hills","year":"2011","journal-title":"Pediatr Cardiol"}],"container-title":["European Heart Journal - 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