{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T23:37:30Z","timestamp":1789083450608,"version":"build-2803163510"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T00:00:00Z","timestamp":1605484800000},"content-version":"vor","delay-in-days":289,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Initial studies have suggested the familial clustering of mitral valve prolapse, but most of them were either community based among unselected individuals or applied non-specific diagnostic criteria. Therefore little is known about the familial distribution of mitral regurgitation in a referral-type population with a more severe mitral valve prolapse phenotype. The objective of this study was to evaluate the presence of familial mitral regurgitation in patients undergoing surgery for mitral valve prolapse, differentiating patients with Barlow's disease, Barlow forme fruste and fibro-elastic deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 385 patients (62\u2009\u00b1\u200912 years, 63% men) who underwent surgery for mitral valve prolapse were contacted to assess cardiac family history systematically. Only the documented presence of mitral regurgitation was considered to define \u2018familial mitral regurgitation\u2019. In the probands, the aetiology of mitral valve prolapse was defined by surgical observations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 107 (28%) probands were classified as having Barlow's disease, 85 (22%) as Barlow forme fruste and 193 (50%) patients as fibro-elastic deficiency. In total, 51 patients (13%) reported a clear family history for mitral regurgitation; these patients were significantly younger, more often diagnosed with Barlow's disease and also reported more sudden death in their family as compared with \u2018sporadic mitral regurgitation\u2019. In particular, \u2018familial mitral regurgitation\u2019 was reported in 28 patients with Barlow's disease (26%), 15 patients (8%) with fibro-elastic deficiency and eight (9%) with Barlow forme fruste (P\u2009&amp;lt;\u20090.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In a large cohort of patients operated for mitral valve prolapse, the self-reported prevalence of familial mitral regurgitation was 26% in patients with Barlow's disease and still 8% in patients with fibro-elastic deficiency, highlighting the importance of familial anamnesis and echocardiographic screening in all mitral valve prolapse patients.<\/jats:p><\/jats:sec>","DOI":"10.1177\/2047487319874148","type":"journal-article","created":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T15:04:33Z","timestamp":1567436673000},"page":"272-280","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery"],"prefix":"10.1093","volume":"27","author":[{"given":"Yasmine L","family":"Hiemstra","sequence":"first","affiliation":[{"name":"Department of Cardiology , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniek L van","family":"Wijngaarden","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde W","family":"Bos","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin J","family":"Schalij","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert JM","family":"Klautz","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen J","family":"Bax","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Delgado","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela QCM","family":"Barge-Schaapveld","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Leiden University Medical Center, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina 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