{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:50:53Z","timestamp":1753890653393,"version":"3.41.2"},"reference-count":8,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"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>A 33-year-old patient presented with a chief complaint of patent ductus arteriosus (PDA) persisting for over 30 years. Physical examination revealed bilateral facial angiofibromas, multiple nail fibromas, intraoral fibromas, and a \u2019shagreen patch\u2019 on the left lumbar region. Genetic testing was performed using a peripheral venous blood sample, which confirmed the diagnosis of Tuberous Sclerosis Type 2 (TSC2). Subsequently, the patient underwent cardiac color Doppler ultrasound and chest computed tomography angiography, which confirmed the presence of PDA. Tuberous sclerosis complex (TSC) is associated with cardiovascular diseases. The initial clinical manifestation of TSC is usually cardiac rhabdomyoma in children, and it is rarely reported in adults with PDA. In this case, the patient was diagnosed with PDA when he was young, and the genetic test showed heterozygous variation of TSC2 gene. The purpose of this article is to explore the correlation between TSC and PDA at the gene level through literature review.<\/jats:p>","DOI":"10.3389\/fcvm.2024.1391775","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T05:03:40Z","timestamp":1721883820000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Patent ductus arteriosus with tuberous sclerosis complex"],"prefix":"10.3389","volume":"11","author":[{"given":"Tingrui","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxiao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,7,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"475","DOI":"10.2174\/1389202087862412","article-title":"Genetics and molecular biology of tuberous sclerosis complex","volume":"9","author":"Napolioni","year":"2008","journal-title":"Curr Genomics"},{"key":"B2","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1007\/s002469910029","article-title":"Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis","volume":"21","author":"Jiang","year":"2000","journal-title":"Pediatr Cardiol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.tins.2009.11.003","article-title":"Mtor signaling: at the crossroads of plasticity, memory and disease","volume":"33","author":"Hoeffer","year":"2010","journal-title":"Trends Neurosci"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1056\/NEJMra055323","article-title":"The tuberous sclerosis complex","volume":"355","author":"Crino","year":"2006","journal-title":"N Engl J Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1084\/jem.20131080","article-title":"Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells","volume":"211","author":"Li","year":"2014","journal-title":"J Exp Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1111\/chd.12714","article-title":"Molecular and mechanical factors contributing to ductus arteriosus patency and closure","volume":"14","author":"Crockett","year":"2018","journal-title":"Congenit Heart Dis"},{"key":"B7","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1007\/s10555-007-9096-5","article-title":"Cyclooxy -genases, prostanoids, and tumor progression","volume":"26","author":"Wang","year":"2007","journal-title":"Cancer Metastasis Rev"},{"key":"B8","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/s0095-5108(18)30293-8","article-title":"Patent ductus arteriosus: clinical relevance of prostaglandins and prostag -landin inhibitors in PDA pathophysiology and treatment","volume":"22","author":"Hammerman","year":"1995","journal-title":"Clin Perinatol"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2024.1391775\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T05:03:43Z","timestamp":1721883823000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2024.1391775\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,25]]},"references-count":8,"alternative-id":["10.3389\/fcvm.2024.1391775"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2024.1391775","relation":{},"ISSN":["2297-055X"],"issn-type":[{"type":"electronic","value":"2297-055X"}],"subject":[],"published":{"date-parts":[[2024,7,25]]},"article-number":"1391775"}}