{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T05:14:55Z","timestamp":1788498895029,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Obstructive total anomalous pulmonary venous connection (TAPVC) and ABCA3\u2010related interstitial lung disease (ILD) rarely coexist. We report a neonate with TAPVC complicated by compound heterozygous ABCA3 variants (c.4180dup\/p.V1394fs maternal, c.3446A&gt;G\/p.D1149G paternal). Overlapping neonatal respiratory symptoms mask the underlying surfactant disorder, easily causing misdiagnosis and delayed targeted management. This case highlights that the genetic screening for ABCA3 deficiency is mandatory for infants with persistent severe hypoxemia and ventilator dependence after complete TAPVC surgical repair. To our knowledge, this is the first documented co\u2010occurrence of TAPVC and congenital ABCA3\u2010related ILD.<\/jats:p>","DOI":"10.1002\/jcu.70390","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T04:23:48Z","timestamp":1788495828000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Masked\n                    <scp>ABCA3<\/scp>\n                    \u2010Related Interstitial Lung Disease in a Neonate With Prenatally Diagnosed Total Anomalous Pulmonary Venous Connection"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3896-5727","authenticated-orcid":false,"given":"Xiaoyan","family":"Hao","sequence":"first","affiliation":[{"name":"Maternal\u2010Fetal Medicine Center in Fetal Heart Disease Capital Medical University; Beijing Anzhen Hospital  Beijing China"},{"name":"Beijing Lab for Cardiovascular Precision Medicine Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8072-8656","authenticated-orcid":false,"given":"Shuang","family":"Yang","sequence":"additional","affiliation":[{"name":"Pediatric Cardiac Center Capital Medical University; Beijing Anzhen Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3059-0446","authenticated-orcid":false,"given":"Qiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Pediatric Cardiac Center Capital Medical University; Beijing Anzhen Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Medicine Center in Fetal Heart Disease Capital Medical University; Beijing Anzhen Hospital  Beijing China"},{"name":"Beijing Lab for Cardiovascular Precision Medicine Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4985-2365","authenticated-orcid":false,"given":"Yihua","family":"He","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Medicine Center in Fetal Heart Disease Capital Medical University; Beijing Anzhen Hospital  Beijing China"},{"name":"Beijing Lab for Cardiovascular Precision Medicine Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,3]]},"reference":[{"issue":"3","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/jcu.22973","article-title":"Prenatal Diagnosis of Total Anomalous Pulmonary Venous Connection: 2D and 3D Echocardiographic Findings","volume":"49","author":"Bravo\u2010Valenzuela N. J. M.","year":"2021","journal-title":"Journal of Clinical Ultrasound"},{"issue":"6","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1136\/thorax-2022-219434","article-title":"ABCA3\u2010Related Interstitial Lung Disease Beyond Infancy","volume":"78","author":"Li Y.","year":"2023","journal-title":"Thorax"},{"issue":"1","key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/uog.18907","article-title":"Prenatal Diagnosis of Total and Partial Anomalous Pulmonary Venous Connection: Multicenter Cohort Study and Meta\u2010Analysis","volume":"52","author":"Paladini D.","year":"2018","journal-title":"Ultrasound in Obstetrics & Gynecology"},{"issue":"4","key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/j.clp.2025.08.010","article-title":"Total Anomalous Pulmonary Venous Connections","volume":"52","author":"Voleti Chivukula S.","year":"2025","journal-title":"Clinics in Perinatology"},{"issue":"4","key":"e_1_2_9_6_1","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1165\/rcmb.2021-0405ED","article-title":"First Steps Toward Personalized Therapies for ABCA3 Deficiency","volume":"66","author":"Wambach J. A.","year":"2022","journal-title":"American Journal of Respiratory Cell and Molecular Biology"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70390","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcu.70390","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.70390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T04:23:50Z","timestamp":1788495830000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.70390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,3]]},"references-count":5,"alternative-id":["10.1002\/jcu.70390"],"URL":"https:\/\/doi.org\/10.1002\/jcu.70390","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"value":"0091-2751","type":"print"},{"value":"1097-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,3]]},"assertion":[{"value":"2026-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"jcu.70390"}}