{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T05:54:38Z","timestamp":1781762078510,"version":"3.54.5"},"reference-count":7,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect usually associated with tetralogy of Fallot. Isolated APVS with intact ventricular septum (IVS) is exceptionally uncommon, and no previous link to CHARGE syndrome has been described.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We report a newborn girl diagnosed antenatally with isolated APVS-IVS. Postnatal evaluation revealed dysplastic absent pulmonary valve with free regurgitation, biventricular non-compaction, and multiple extracardiac anomalies including esophageal atresia, right aortic arch with left ductus arteriosus, and central nervous system malformations. Genetic testing identified a heterozygous CHD7 variant consistent with CHARGE syndrome. The patient showed spontaneous improvement in ventricular function after ductal closure and underwent successful balloon pulmonary valvuloplasty at four weeks of age with favorable long-term outcome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first reported case of isolated APVS-IVS associated with CHARGE syndrome. The observation of biventricular non-compaction and vascular ring raises the possibility of a unique developmental mechanism within the CHARGE spectrum. Early diagnosis and individualized management are key to optimizing outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fcvm.2026.1727914","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T05:30:15Z","timestamp":1781760615000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature"],"prefix":"10.3389","volume":"13","author":[{"given":"Azzam","family":"Alqashami","sequence":"first","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Majma\u2019ah University","place":["Majma\u2019ah, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Alkhalaf","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology, King Fahad Medical City","place":["Riyadh, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faleh","family":"Al Qahtani","sequence":"additional","affiliation":[{"name":"King Abdulaziz Cardiac Center, National Guard Health Affairs","place":["Riyadh, Saudi Arabia"]},{"name":"College of Applied Science, King Saud Bin Abdulaziz University for Health Sciences","place":["Riyadh, Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1002\/pd.5094","article-title":"Absent pulmonary valve syndrome - diagnosis, associations, and outcome in 71 prenatally diagnosed cases","volume":"37","author":"Axt-Fliedner","year":"2017","journal-title":"Prenat Diagn"},{"key":"B2","doi-asserted-by":"publisher","first-page":"136","DOI":"10.4103\/apc.APC_101_19","article-title":"Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: how to counsel the parents?","volume":"13","author":"Rakha","year":"2020","journal-title":"Ann Pediatr Cardiol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1002\/uog.11193","article-title":"Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature","volume":"41","author":"Wertaschnigg","year":"2013","journal-title":"Ultrasound Obstet Gynecol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/uog.15977","article-title":"Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome","volume":"49","author":"Gottschalk","year":"2016","journal-title":"Ultrasound Obstet Gynecol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/s0022-3476(81)80454-4","article-title":"Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association","volume":"99","author":"Pagon","year":"1981","journal-title":"J Pediatr."},{"key":"B6","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome","volume":"36","author":"Vissers","year":"2004","journal-title":"Nat Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1002\/pd.1067","article-title":"Fetal cardiac anomalies and genetic syndromes","volume":"24","author":"Eva Pajkrt","year":"2004","journal-title":"Prenat Diagn"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2026.1727914\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T05:30:16Z","timestamp":1781760616000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2026.1727914\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,18]]},"references-count":7,"alternative-id":["10.3389\/fcvm.2026.1727914"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2026.1727914","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,18]]},"article-number":"1727914"}}