{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:27:19Z","timestamp":1791329239100,"version":"4.3.1"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Klippel\u2013Feil syndrome (KFS) is a rare congenital anomaly of the cervical spine, which is associated with a number of cardiovascular malformations, including coarctation of the aorta, bicuspid aortic valve (BAoV), and aortic aneurysm. Operative management of aortic stenosis of a BAoV in a patient with KFS has not been previously reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case summary<\/jats:title><jats:p>A 54-year-old Caucasian woman with known KFS presented to her local hospital for elective cholecystectomy. An ejection systolic murmur was found incidentally on preoperative workup, which was confirmed to be due to a severely stenosed BAoV. The cholecystectomy was cancelled, and the patient was referred to our centre and accepted for surgical aortic valve replacement (AVR) based on symptomatic and prognostic grounds. Anaesthetic review of cervical spine imaging showed fusion of the C2\u2013C6 vertebral bodies and a desiccated bulging disc at C4\u2013C5 but no significant foraminal narrowing in the lower cervical spine. Valve replacement with a mechanical aortic prosthesis resulted in an uneventful recovery and the patient was discharged home to follow-up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>We report the first case of severe aortic valve stenosis requiring AVR in a Klippel\u2013Feil patient, in whom the aortic valve was confirmed to be bicuspid. This report provides further evidence of an association of KFS with BAoV and strengthens the case for screening and follow-up of KFS patients for BAoV and other cardiovascular pathologies, the consequences of which may be serious.<\/jats:p><\/jats:sec>","DOI":"10.1093\/ehjcr\/ytaa037","type":"journal-article","created":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T02:18:25Z","timestamp":1585102705000},"page":"1-4","source":"Crossref","is-referenced-by-count":4,"title":["Aortic stenosis of a bicuspid aortic valve in a patient with Klippel\u2013Feil syndrome: a case report"],"prefix":"10.1093","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0739-0537","authenticated-orcid":false,"given":"Rory F L","family":"Hammond","sequence":"first","affiliation":[{"name":"Department of Cardiothoracic Surgery, Barts Heart Centre, St Bartholomew\u2019s Hospital, West Smithfield, London EC1A 7BE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Jasionowska","sequence":"first","affiliation":[{"name":"Department of Cardiothoracic Surgery, Barts Heart Centre, St Bartholomew\u2019s Hospital, West Smithfield, London EC1A 7BE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wael I","family":"Awad","sequence":"first","affiliation":[{"name":"Department of Cardiothoracic Surgery, Barts Heart Centre, St Bartholomew\u2019s Hospital, West Smithfield, London EC1A 7BE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,3,24]]},"reference":[{"key":"2020062620235660200_ytaa037-B1","first-page":"886","volume-title":"Syndromes of the Head and Neck","author":"Gorlin","year":"1990"},{"key":"2020062620235660200_ytaa037-B2","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1136\/hrt.38.11.1220","article-title":"Klippel-Feil syndrome associated with aortic coarctation","volume":"38","author":"Falk","year":"1976","journal-title":"Br Heart J"},{"key":"2020062620235660200_ytaa037-B3","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3889\/oamjms.2015.022","article-title":"Klippel\u2013Feil syndrome associated with congential heart disease presentation of cases and a review of the current literature","volume":"3","author":"Bejiqi","year":"2015","journal-title":"Open Access Maced J Med Sci"},{"key":"2020062620235660200_ytaa037-B4","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1161\/01.CIR.0000155623.48408.C5","article-title":"Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation","volume":"111","author":"Roberts","year":"2005","journal-title":"Circulation"},{"key":"2020062620235660200_ytaa037-B5","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"2020062620235660200_ytaa037-B6","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1093\/icvts\/ivu193","article-title":"Surgical management of a hypoplastic distal aortic arch and coarctation of aorta in a patient with Klippel\u2013Feil syndrome, ascending aortic aneurysm and bicuspid aortic valve","volume":"19","author":"Sabol","year":"2014","journal-title":"Interact Cardiovasc Thorac Surg"},{"key":"2020062620235660200_ytaa037-B7","first-page":"495","article-title":"A case of Klippel-Feil syndrome with congenital cardiovascular anomalies","volume":"43","author":"Bayam","year":"2015","journal-title":"Turk Kardiyol Dern Ars"},{"key":"2020062620235660200_ytaa037-B8","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1056\/NEJMra1207059","article-title":"Aortic dilatation in patients with bicuspid aortic valve","volume":"370","author":"Verma","year":"2014","journal-title":"N Engl J Med"},{"key":"2020062620235660200_ytaa037-B9","first-page":"428","article-title":"Klippel-Feil syndrome and bicuspid aortic valve: report of a case","volume":"51","author":"Lynch","year":"1966","journal-title":"Nebr State Med J"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ehjcr\/article-pdf\/4\/3\/1\/33434344\/ytaa037.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/ehjcr\/article-pdf\/4\/3\/1\/33434344\/ytaa037.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T17:59:36Z","timestamp":1666202376000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/4\/3\/1\/5811393"}},"subtitle":[],"editor":[{"given":"Elena","family":"Cavarretta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Danny can de","family":"Sande","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Nikolaos","family":"Bonaros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Rahul","family":"Mukherjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Ross","family":"Thomson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2020,3,24]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3,24]]},"published-print":{"date-parts":[[2020,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytaa037","relation":{},"ISSN":["2514-2119"],"issn-type":[{"value":"2514-2119","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,6]]},"published":{"date-parts":[[2020,3,24]]}}}