{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T01:40:02Z","timestamp":1756777202080,"version":"3.44.0"},"reference-count":6,"publisher":"Cambridge University Press (CUP)","issue":"7","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"unspecified","delay-in-days":31,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cardio-facial-cutaneous syndrome is a rare genetic disorder that typically presents with a combination of CHDs, distinctive facial features, and cutaneous abnormalities. Cardio-facial-cutaneous syndrome is usually caused by a genetic change in the BRAF gene but can also be due to genetic change in the MAP2K1, MAP2K2, or KRAS genes. It is an autosomal dominant condition, but most cases are not inherited, due to new genetic change that occurs in the formation of the egg or sperm or shortly after fertilisation. It has been seen previously in the literature where the patient required a mitral valve replacement because of insufficiency. In this case report, we describe a patient with cardio-facial-cutaneous syndrome who also presented with mitral valve prolapse. This rare association expands the spectrum of cardiovascular manifestations in cardio-facial-cutaneous syndrome and highlights the importance of comprehensive cardiovascular evaluation in these patients.<\/jats:p>","DOI":"10.1017\/s104795112510125x","type":"journal-article","created":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T09:45:34Z","timestamp":1754041534000},"page":"1523-1525","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association"],"prefix":"10.1017","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-1754-3859","authenticated-orcid":false,"given":"Natraj","family":"Ballal","sequence":"first","affiliation":[{"name":"University of South Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4206-0831","authenticated-orcid":false,"given":"Neehar","family":"Haryadi","sequence":"additional","affiliation":[{"name":"Central Michigan University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2025,8,1]]},"reference":[{"key":"S104795112510125X_ref3","first-page":"5","article-title":"Cardio-facial-cutaneous syndrome: a RASopathy","volume":"84","author":"Rauen","year":"2013","journal-title":"Clin Genet"},{"key":"S104795112510125X_ref4","first-page":"201","article-title":"Cardio-facial-cutaneous syndrome","volume":"126A","author":"Shprintzen","year":"2004","journal-title":"Am J Med Genet"},{"key":"S104795112510125X_ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000243782"},{"key":"S104795112510125X_ref6","first-page":"1121","article-title":"Germline KRAS mutations cause noonan syndrome","volume":"39","author":"Schubbert","year":"2007","journal-title":"Nat Genet"},{"key":"S104795112510125X_ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"S104795112510125X_ref1","first-page":"1794","article-title":"Mutations within the RAS\/MEK pathway in patients with cardio-facial-cutaneous syndrome","volume":"117","author":"Bicknell","year":"2007","journal-title":"J Clin Invest"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S104795112510125X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T01:04:10Z","timestamp":1756775050000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S104795112510125X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":6,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["S104795112510125X"],"URL":"https:\/\/doi.org\/10.1017\/s104795112510125x","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}