{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T15:04:41Z","timestamp":1789830281625,"version":"4.0.1"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T00:00:00Z","timestamp":1680566400000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Neurofibromatosis (NF) is an autosomal dominant neurocutaneous disease with multi-system involvement. Three cardiovascular associations are recognized but infrequently reported: congenital heart disease, vasculopathy, and hypertension. Cardiac outflow tract pathology, pulmonary stenosis, and aortic co-arctation have been described in the literature with varying frequency. The incidence of intra-cardiac tumour is exceeding rare.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 53-year-old man presented to the neurosurgical team with myelopathy secondary to cord compression arising from multiple cervical neurofibromas secondary to NF-1. Further cardiac evaluation with echocardiography and cardiac MRI uncovered the presence of both a bicuspid aortic valve (with mild aortic stenosis and moderate aortic regurgitation) and a concurrent intra-cardiac tumour of the mitral papillary muscle; a combined finding which was not reported previously. Serial evaluation confirmed stable disease with no major progression over time.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Our case highlights the importance of recognizing cardiovascular manifestations of NF-1 and instituting appropriate screening and surveillance strategies. Targeted non-invasive imaging strategies may be more suited for this purpose over routine clinical examination alone.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad158","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T18:24:58Z","timestamp":1680632698000},"source":"Crossref","is-referenced-by-count":1,"title":["Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1\u2014rare associations: a case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6483-8246","authenticated-orcid":false,"given":"Claire","family":"MacLeod","sequence":"first","affiliation":[{"name":"School of Medicine, Dentistry & Nursing, University of Glasgow, University Avenue , Glasgow G12 8QQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3505-7440","authenticated-orcid":false,"given":"Kenneth","family":"Mangion","sequence":"additional","affiliation":[{"name":"School of Medicine, Dentistry & Nursing, University of Glasgow, University Avenue , Glasgow G12 8QQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9393-7764","authenticated-orcid":false,"given":"Giles","family":"Roditi","sequence":"additional","affiliation":[{"name":"Department of Radiology, Glasgow Royal Infirmary , 84 Castle St, G4 0SF Glasgow , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-2936","authenticated-orcid":false,"given":"Faheem","family":"Ahmad","sequence":"additional","affiliation":[{"name":"School of Medicine, Dentistry & Nursing, University of Glasgow, University Avenue , Glasgow G12 8QQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,4,4]]},"reference":[{"key":"2023042014221816700_ytad158-B1","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1056\/NEJM198112313052704","article-title":"Von Recklinghausen neurofibromatosis","volume":"305","author":"Riccardi","year":"1981","journal-title":"N Engl J Med"},{"key":"2023042014221816700_ytad158-B2","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1111\/cge.12072","article-title":"Cardiac characterization of 16 patients with large NF1 gene deletions","volume":"84","author":"Nguyen","year":"2013","journal-title":"Clin Genet"},{"key":"2023042014221816700_ytad158-B3","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/S0022-3476(05)80639-0","article-title":"Neurofibromatosis type 1 in childhood","volume":"116","author":"Listernick","year":"1990","journal-title":"J Pediatr"},{"key":"2023042014221816700_ytad158-B4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/00125817-200205000-00002","article-title":"Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force","volume":"4","author":"Friedman","year":"2002","journal-title":"Genet Med"},{"key":"2023042014221816700_ytad158-B5","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/1096-8628(20001113)95:2<108::AID-AJMG4>3.0.CO;2-0","article-title":"Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1","volume":"95","author":"Lin","year":"2000","journal-title":"Am J Med Genet"},{"key":"2023042014221816700_ytad158-B6","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1093\/ejcts\/ezab389","article-title":"2021 ESC\/EACTS guidelines for the management of valvular heart disease","volume":"60","author":"Vahanian","year":"2021","journal-title":"Eur J cardio-thoracic Surg"},{"key":"2023042014221816700_ytad158-B7","doi-asserted-by":"crossref","first-page":"4359","DOI":"10.1242\/dev.125.22.4359","article-title":"Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart","volume":"125","author":"Lakkis","year":"1998","journal-title":"Development"},{"key":"2023042014221816700_ytad158-B8","doi-asserted-by":"crossref","first-page":"168","DOI":"10.3400\/avd.cr.20-00174","article-title":"Three arterial ruptures in a patient with neurofibromatosis type 1","volume":"14","author":"Higa","year":"2021","journal-title":"Ann Vasc Dis"},{"key":"2023042014221816700_ytad158-B9","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1542\/peds.105.4.815","article-title":"Echocardiographic diagnosis of heart disease in apparently healthy adolescents","volume":"105","author":"Steinberger","year":"2000","journal-title":"Pediatrics"},{"key":"2023042014221816700_ytad158-B10","first-page":"972","article-title":"Unusual cardiac presentation in neurofibromatosis type 1","volume":"12","author":"Moustafa","year":"2011","journal-title":"Eur J Echocardiogr"}],"container-title":["European Heart Journal - 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