{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T11:18:23Z","timestamp":1785928703989,"version":"3.56.0"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T00:00:00Z","timestamp":1650844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.ijcard.2022.04.022","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T20:59:14Z","timestamp":1649797154000},"page":"91-98","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis"],"prefix":"10.1016","volume":"359","author":[{"given":"Anne-Sophie","family":"Boureau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Karakachoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solena","family":"Le Scouarnec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Capoulade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Cueff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"de Decker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Senage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Verhoye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Baufreton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christian","family":"Roussel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Dina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Probst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"Schott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Le Tourneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ijcard.2022.04.022_bb0005","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/heartjnl-2012-302265","article-title":"The evolving epidemiology of valvular aortic stenosis. the Troms\u00f8 study","volume":"99","author":"Eveborn","year":"2013","journal-title":"Heart"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0010","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/S0735-1097(96)00563-3","article-title":"Clinical factors associated with calcific aortic valve disease. Cardiovascular Health Study","volume":"29","author":"Stewart","year":"1997","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0015","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1016\/j.jacc.2007.12.031","article-title":"Genomics: the next step to elucidate the etiology of calcific aortic valve stenosis","volume":"51","author":"Boss\u00e9","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0020","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.hlc.2006.06.001","article-title":"Echocardiographic prevalence of bicuspid aortic valve in the population","volume":"15","author":"Movahed","year":"2006","journal-title":"Heart Lung Circ."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0025","doi-asserted-by":"crossref","first-page":"119","DOI":"10.4103\/apc.APC_137_17","article-title":"Population-based treated prevalence, risk factors, and outcomes of bicuspid aortic valve in a pediatric Medicaid cohort","volume":"11","author":"Tripathi","year":"2018","journal-title":"Ann. Pediatr. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0030","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1161\/CIRCULATIONAHA.113.007851","article-title":"Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon)","volume":"129","author":"Michelena","year":"2014","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0035","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":"10.1016\/j.ijcard.2022.04.022_bb0040","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1161\/CIRCULATIONAHA.105.569467","article-title":"Familial aggregation of calcific aortic valve stenosis in the western part of France","volume":"113","author":"Probst","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0045","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.117.001742","article-title":"Familial aggregation of aortic valvular stenosis: a nationwide study of sibling risk","volume":"10","author":"Martinsson","year":"2017","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0050","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":"10.1016\/j.ijcard.2022.04.022_bb0055","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1056\/NEJMoa1109034","article-title":"Genetic associations with valvular calcification and aortic stenosis","volume":"368","author":"Thanassoulis","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0060","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.119.002617","article-title":"Genetic association analyses highlight IL6, ALPL, and NAV1 As 3 new susceptibility genes underlying calcific aortic valve stenosis","volume":"12","author":"Th\u00e9riault","year":"2019","journal-title":"Circ. Genomic Precis. Med."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0065","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.119.002710","article-title":"FADS1 (fatty acid desaturase 1) genotype associates with aortic valve FADS mRNA expression, fatty acid content and calcification","volume":"13","author":"Plunde","year":"2020","journal-title":"Circ. Genomic Precis. Med."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0070","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1056\/NEJMra1313875","article-title":"Aortic-valve stenosis \u2013 from patients at risk to severe valve obstruction","volume":"371","author":"Otto","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0075","article-title":"Replacement myocardial fibrosis in patients with mitral valve prolapse: relation to mitral regurgitation, ventricular remodeling, and arrhythmia","volume":"143","author":"Al","year":"2021","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0080","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.echo.2008.11.029","article-title":"Echocardiographic assessment of valve stenosis: EAE\/ASE recommendations for clinical practice","volume":"22","author":"Baumgartner","year":"2009","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0085","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1016\/j.jtcvs.2007.01.039","article-title":"A classification system for the bicuspid aortic valve from 304 surgical specimens","volume":"133","author":"Sievers","year":"2007","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0090","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1086\/301844","article-title":"Multipoint quantitative-trait linkage analysis in general pedigrees","volume":"62","author":"Almasy","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0095","series-title":"SOLAR: Sequential Oligogenic Linkage Analysis Routines","author":"Blangero","year":"1996"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0100","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/1471-2288-8-80","article-title":"Estimating adjusted prevalence ratio in clustered cross-sectional epidemiological data","volume":"8","author":"Santos","year":"2008","journal-title":"BMC Med. Res. Methodol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0105","doi-asserted-by":"crossref","first-page":"e114","DOI":"10.1161\/atvb.26.6.1303","article-title":"Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly","volume":"26","author":"Kurz","year":"2006","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0110","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1161\/ATVBAHA.117.309201","article-title":"Large-scale analysis of determinants, stability, and heritability of high-density lipoprotein cholesterol efflux capacity","volume":"37","author":"Koekemoer","year":"2017","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0115","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.jacc.2004.03.050","article-title":"Bicuspid aortic valve is heritable","volume":"44","author":"Cripe","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0120","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1136\/heartjnl-2017-311560","article-title":"Anatomical and clinical predictors of valve dysfunction and aortic dilation in bicuspid aortic valve disease","volume":"104","author":"Evangelista","year":"2018","journal-title":"Heart"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0125","first-page":"603","article-title":"Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives","volume":"105","author":"Galian-Gay","year":"2019","journal-title":"Heart"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0130","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41588-018-0265-y","article-title":"ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm","volume":"51","author":"Gould","year":"2019","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0135","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1016\/j.ijcard.2013.04.180","article-title":"Hereditary patterns of bicuspid aortic valve in a hundred families","volume":"168","author":"Robledo-Carmona","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0140","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1016\/j.jacc.2014.04.073","article-title":"A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium)","volume":"64","author":"Prakash","year":"2014","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0145","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1016\/S0735-1097(97)00372-0","article-title":"A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve","volume":"30","author":"Huntington","year":"1997","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0150","series-title":"Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology","article-title":"Notch Signaling in Aortic Valve Development and Disease","author":"Garg","year":"2016"},{"key":"10.1016\/j.ijcard.2022.04.022_bb0155","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1038\/s41467-018-03252-6","article-title":"Genome-wide analysis yields new loci associating with aortic valve stenosis","volume":"9","author":"Helgadottir","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0160","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/72835","article-title":"A role for smad6 in development and homeostasis of the cardiovascular system","volume":"24","author":"Galvin","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0165","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/ng.2007.6","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections","volume":"39","author":"Guo","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0170","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1172\/JCI44555","article-title":"Loss of Gata5 in mice leads to bicuspid aortic valve","volume":"121","author":"Laforest","year":"2011","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0175","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.611922","article-title":"Mitochondrial dysfunction: cause or consequence of vascular calcification?","volume":"9","author":"Phadwal","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0180","doi-asserted-by":"crossref","first-page":"E4899","DOI":"10.3390\/ijms21144899","article-title":"Aortic valve stenosis and mitochondrial dysfunctions: clinical and molecular perspectives","volume":"21","author":"Pedriali","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0185","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003520","article-title":"Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits","volume":"9","author":"Zaitlen","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ijcard.2022.04.022_bb0190","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1093\/ehjci\/jey166","article-title":"Coexistent bicuspid aortic valve and mitral valve prolapse: epidemiology, phenotypic spectrum, and clinical implications","volume":"20","author":"Padang","year":"2019","journal-title":"Eur. Heart J. Cardiovasc. Imaging"}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527322005010?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527322005010?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T20:57:12Z","timestamp":1759093032000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167527322005010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":38,"alternative-id":["S0167527322005010"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2022.04.022","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2022.04.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}