{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T04:40:18Z","timestamp":1756356018699,"version":"3.44.0"},"reference-count":7,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:00:00Z","timestamp":1756339200000},"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:p>Turner syndrome (TS) is the most common sex chromosome abnormality disorder, caused by complete or partial absence of the X chromosome, its clinical manifestations primarily include short stature, gonadal dysgenesis, and characteristic cardiovascular malformations, pediatric cardiologists pay particular attention to coarctation of the aorta (CoA), which occurs in 15%\u201330% of TS patients and represents a life-threatening condition requiring prioritized screening during the neonatal and childhood periods (<jats:xref>1<\/jats:xref>\u2013 <jats:xref>3<\/jats:xref>). Furthermore, due to lymphatic system developmental abnormalities, TS patients also face elevated risks of aortic root dilation, bicuspid aortic valve, and vascular structural anomalies (<jats:xref>3<\/jats:xref>). Pulmonary arteriovenous malformation (PAVM) is a rare pulmonary vascular anomaly, with an estimated prevalence of approximately 1 in 50,000 in the general population (<jats:xref>1<\/jats:xref>\u2013<jats:xref>3<\/jats:xref>). Although the exact prevalence of PAVM in TS patients remains unclear, case series suggest a significantly elevated risk compared to the general population (estimated risk ratio: 5- to 10-fold), this association may be attributed to defective vascular elastic fiber development and dysregulated angiogenic signaling pathways in TS patients (<jats:xref>4<\/jats:xref>, <jats:xref>5<\/jats:xref>). Here, we report the first documented case of TS complicated by PAVM, aiming to enhance clinicians' awareness of this rare comorbidity and provide evidence-based diagnostic and therapeutic recommendations.<\/jats:p>","DOI":"10.3389\/fcvm.2025.1603250","type":"journal-article","created":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T04:12:46Z","timestamp":1756354366000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Turner syndrome with pulmonary arteriovenous malformation: a case report"],"prefix":"10.3389","volume":"12","author":[{"given":"Huibin","family":"Guo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongqiao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sihao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shilong","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1136\/jmedgenet-2013-101720","article-title":"Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in turner syndrome","volume":"50","author":"Bondy","year":"2013","journal-title":"J Med Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1904","DOI":"10.1016\/j.jacc.2008.02.035","article-title":"Aortic valve disease in turner syndrome","volume":"51","author":"Sachdev","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1161\/CIRCIMAGING.113.000526","article-title":"Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in turner syndrome","volume":"6","author":"Olivieri","year":"2013","journal-title":"Circ Cardiovasc Imaging"},{"key":"B4","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1016\/S0022-3476(86)80700-4","article-title":"Aortic dilation, dissection, and rupture in patients with turner syndrome","volume":"109","author":"Lin","year":"1986","journal-title":"J Pediatr"},{"key":"B5","unstructured":"Kuiper-Makris\n              C\n            \n          \n          Universit\u00e4t zu K\u00f6ln\n          Dysregulation of angiogenic signaling and reduced elastic fibers are associated with impaired formation of microvessels in rat lungs after intrauterine growth retardation\n          \n          2021"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1164\/rccm.201407-1254CI","article-title":"Pulmonary arteriovenous malformations","volume":"190","author":"Shovlin","year":"2014","journal-title":"Am J Respir Crit Care Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"288","DOI":"10.7499\/j.issn.1008-8830.2010094","article-title":"Sudden convulsion with multiple pulmonary nodules in a girl aged 15 years","volume":"23","author":"Zhang","year":"2021","journal-title":"Zhongguo Dangdai Erke Zazhi=Chin J Contemp Pediatr"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2025.1603250\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T04:12:48Z","timestamp":1756354368000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2025.1603250\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,28]]},"references-count":7,"alternative-id":["10.3389\/fcvm.2025.1603250"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2025.1603250","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,28]]},"article-number":"1603250"}}