{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:40:02Z","timestamp":1756312802264,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","issue":"6","funder":[{"name":"NHS Research Scotland"},{"name":"Catherine McEwan Foundation"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,6,6]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>We describe the case of a 16-year-old male patient with BMPR1A mutation and incidentally detected atrial septal defect (ASD). This patient was diagnosed with BMPR1A mutation through genetic testing and was attending for routine surveillance endoscopy when ASD was incidentally diagnosed. He was referred to cardiology outpatient clinic with plans for elective ASD closure. Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.<\/jats:p>","DOI":"10.1136\/bcr-2019-229881","type":"journal-article","created":{"date-parts":[[2019,6,22]],"date-time":"2019-06-22T05:55:29Z","timestamp":1561182929000},"page":"e229881","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["BMPR1A mutation\u2013positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6507-3487","authenticated-orcid":false,"given":"Rachel E","family":"Harris","sequence":"first","affiliation":[{"name":"Department of Paediatric Gastroenterology, Hepatology and Nutrition, Royal Hospital for Children Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard K","family":"Russell","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Hepatology and Nutrition, Royal Hospital for Children Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,6,21]]},"reference":[{"key":"2025082709234239000_12.6.e229881.1","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1213\/XAA.0000000000000714","article-title":"Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report","volume":"10","author":"Bruceta","year":"2018","journal-title":"A A Pract"},{"key":"2025082709234239000_12.6.e229881.2","first-page":"185","article-title":"Hereditary Hamartomatous Polyposis Syndromes","volume":"6","author":"Manfredi","year":"2010","journal-title":"Gastroenterol Hepatol"},{"key":"2025082709234239000_12.6.e229881.3","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v17.i44.4839"},{"key":"2025082709234239000_12.6.e229881.4","doi-asserted-by":"crossref","first-page":"570","DOI":"10.5114\/aoms.2014.43750","article-title":"Juvenile polyposis syndrome","volume":"3","author":"Cichy","year":"2014","journal-title":"Archives of Medical Science"},{"key":"2025082709234239000_12.6.e229881.5","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/S0140-6736(04)15732-2","article-title":"A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)","volume":"363","author":"Gallione","year":"2004","journal-title":"The Lancet"},{"key":"2025082709234239000_12.6.e229881.6","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/gim.2014.5","article-title":"Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review","volume":"16","author":"Wain","year":"2014","journal-title":"Genet Med"},{"key":"2025082709234239000_12.6.e229881.7","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/BF02586736","article-title":"Juvenile colonic polyposis associated with congenital heart disease","volume":"21","author":"Onaran","year":"1978","journal-title":"Dis Colon Rectum"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-229881","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:23:47Z","timestamp":1756311827000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-229881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":7,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,6,21]]},"published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1136\/bcr-2019-229881"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-229881","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,6]]}}}