{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:20:24Z","timestamp":1790961624143,"version":"4.1.0"},"reference-count":107,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,5,27]],"date-time":"2021-05-27T00:00:00Z","timestamp":1622073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017642","name":"Spanish National Plan for Scientific and Technical Research and Innovation","doi-asserted-by":"publisher","award":["PI1800694"],"award-info":[{"award-number":["PI1800694"]}],"id":[{"id":"10.13039\/501100017642","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Thematic Network for Collaborative Research in Health RETICS REDinREN","award":["RD16\/0009\/0005"],"award-info":[{"award-number":["RD16\/0009\/0005"]}]},{"DOI":"10.13039\/100009664","name":"Sociedad Espa\u00f1ola de Cardiolog\u00eda","doi-asserted-by":"publisher","award":["SEC-2019"],"award-info":[{"award-number":["SEC-2019"]}],"id":[{"id":"10.13039\/100009664","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundaci\u00f3n Asturcor","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Bicuspid aortic valve (BAV) associated with aortopathy is the most common congenital heart disease in the general population. Far from being a simple harmless valve malformation, it can be a complex and heterogeneous disease and a source of chronic and acute pathology (early valvular disease, aneurysm, dissection). In the previous years, intense research has been carried out to find out and understand its mechanisms, but the pathophysiology of the disease is still not fully understood and many questions remain open. Recent studies have discovered several genetic mutations involved in the development of valvular and aortic malformations, but still cannot explain more than 5\u201310% of cases. Other studies have also focused on molecular alterations and cellular processes (TGF-\u03b2 pathway, microRNAs, degradation of the extracellular matrix, metalloproteinases, etc.), being a field in constant search and development, looking for a therapeutic target to prevent the development of the disease. Increased knowledge about this multifaceted disorder, derived from both basic and clinical research, may influence the diagnosis, follow-up, prognosis, and therapies of affected patients in the near future. This review focuses on the latest and outstanding developments on the molecular and genetic investigations of the bicuspid aortopathy.<\/jats:p>","DOI":"10.3390\/ijms22115694","type":"journal-article","created":{"date-parts":[[2021,5,27]],"date-time":"2021-05-27T04:30:46Z","timestamp":1622089846000},"page":"5694","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7003-3196","authenticated-orcid":false,"given":"Alejandro","family":"Junco-Vicente","sequence":"first","affiliation":[{"name":"Cardiology Department, Heart Area, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"del R\u00edo-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Cardiac Pathology Research Group, Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Mart\u00edn","sequence":"additional","affiliation":[{"name":"Cardiology Department, Heart Area, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain"},{"name":"Cardiac Pathology Research Group, Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain"},{"name":"REDinREN from Instituto de Salud Carlos III (ISCIII), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7213-1411","authenticated-orcid":false,"given":"Isabel","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Cardiac Pathology Research Group, Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain"},{"name":"REDinREN from Instituto de Salud Carlos III (ISCIII), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1047951118001658","article-title":"Clinical and pathophysiological aspects of bicuspid aortic valve disease","volume":"29","author":"Pedersen","year":"2019","journal-title":"Cardiol. 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