Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle
Abstract Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicus...
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| Veröffentlicht in: | The American journal of medicine 2016-08, Vol.129 (8), p.796-805 |
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| creator | Longobardo, Luca, MD Jain, Renuka, MD Carerj, Scipione, MD Zito, Concetta, MD, PhD Khandheria, Bijoy K., MD |
| description | Abstract Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve. |
| doi_str_mv | 10.1016/j.amjmed.2016.03.009 |
| format | Article |
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Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve.</description><identifier>ISSN: 0002-9343</identifier><identifier>EISSN: 1555-7162</identifier><identifier>DOI: 10.1016/j.amjmed.2016.03.009</identifier><identifier>PMID: 27059385</identifier><identifier>CODEN: AJMEAZ</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Animals ; Aortic Diseases - etiology ; Aortic Valve - abnormalities ; Aortic Valve - diagnostic imaging ; Aortic Valve - pathology ; Aortic valve disease ; Aortopathy ; Bicuspid aortic valve ; Bicuspid Aortic Valve Disease ; Cardiovascular disease ; Congenital diseases ; Genetic Predisposition to Disease ; Genotype & phenotype ; Heart Valve Diseases - complications ; Heart Valve Diseases - diagnostic imaging ; Heart Valve Diseases - genetics ; Heart Valve Diseases - pathology ; Humans ; Internal Medicine ; Pathogenesis ; Phenotype ; Risk Factors</subject><ispartof>The American journal of medicine, 2016-08, Vol.129 (8), p.796-805</ispartof><rights>Elsevier Inc.</rights><rights>2016 Elsevier Inc.</rights><rights>Copyright © 2016 Elsevier Inc. All rights reserved.</rights><rights>Copyright Elsevier Science Ltd. Aug 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c445t-ef251589adb02a2f70c3ecb46dc3b541435d3ced042a54116ccef78b98aa66ba3</citedby><cites>FETCH-LOGICAL-c445t-ef251589adb02a2f70c3ecb46dc3b541435d3ced042a54116ccef78b98aa66ba3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.amjmed.2016.03.009$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27059385$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Longobardo, Luca, MD</creatorcontrib><creatorcontrib>Jain, Renuka, MD</creatorcontrib><creatorcontrib>Carerj, Scipione, MD</creatorcontrib><creatorcontrib>Zito, Concetta, MD, PhD</creatorcontrib><creatorcontrib>Khandheria, Bijoy K., MD</creatorcontrib><title>Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle</title><title>The American journal of medicine</title><addtitle>Am J Med</addtitle><description>Abstract Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve.</description><subject>Animals</subject><subject>Aortic Diseases - etiology</subject><subject>Aortic Valve - abnormalities</subject><subject>Aortic Valve - diagnostic imaging</subject><subject>Aortic Valve - pathology</subject><subject>Aortic valve disease</subject><subject>Aortopathy</subject><subject>Bicuspid aortic valve</subject><subject>Bicuspid Aortic Valve Disease</subject><subject>Cardiovascular disease</subject><subject>Congenital diseases</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype & phenotype</subject><subject>Heart Valve Diseases - complications</subject><subject>Heart Valve Diseases - diagnostic imaging</subject><subject>Heart Valve Diseases - genetics</subject><subject>Heart Valve Diseases - pathology</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Pathogenesis</subject><subject>Phenotype</subject><subject>Risk Factors</subject><issn>0002-9343</issn><issn>1555-7162</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1P3DAQhq2qqCy0_6CqIvXCJWH8lY8eKlHElwSiEtCr5TgTcMjGWztZif31OFoQEhdO1is_M_Y8Q8h3ChkFmh92mV52S2wyFlMGPAOoPpEFlVKmBc3ZZ7IAAJZWXPBdshdCFyNUMv9CdlkBsuKlXJDqjzVTWNkmOXJ-tCb5p_s1_kruht6ZRzvcJ-MDJlfOrx7cPQ44I3-nzabHr2Sn1X3Aby_nPrk7Pbk9Pk8vr88ujo8uUyOEHFNsmaSyrHRTA9OsLcBwNLXIG8NrKajgsuEGGxBMx0hzY7Atyroqtc7zWvN9crDtu_Lu_4RhVEsbDPa9HtBNQdESCiihFBDRn-_Qzk1-iL-LFC0LEBGLlNhSxrsQPLZq5e1S-ydFQc1qVae2atWsVgFX0Vss-_HSfKrnu9eiV5cR-L0FMNpYW_QqGItDnM16NKNqnP3ohfcNTG8Ha3T_iE8Y3mZRgSlQN_N65-3SnANntODPO-ifPQ</recordid><startdate>20160801</startdate><enddate>20160801</enddate><creator>Longobardo, Luca, MD</creator><creator>Jain, Renuka, MD</creator><creator>Carerj, Scipione, MD</creator><creator>Zito, Concetta, MD, PhD</creator><creator>Khandheria, Bijoy K., MD</creator><general>Elsevier Inc</general><general>Elsevier Sequoia S.A</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TO</scope><scope>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>20160801</creationdate><title>Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle</title><author>Longobardo, Luca, MD ; Jain, Renuka, MD ; Carerj, Scipione, MD ; Zito, Concetta, MD, PhD ; Khandheria, Bijoy K., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c445t-ef251589adb02a2f70c3ecb46dc3b541435d3ced042a54116ccef78b98aa66ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Animals</topic><topic>Aortic Diseases - etiology</topic><topic>Aortic Valve - abnormalities</topic><topic>Aortic Valve - diagnostic imaging</topic><topic>Aortic Valve - pathology</topic><topic>Aortic valve disease</topic><topic>Aortopathy</topic><topic>Bicuspid aortic valve</topic><topic>Bicuspid Aortic Valve Disease</topic><topic>Cardiovascular disease</topic><topic>Congenital diseases</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype & phenotype</topic><topic>Heart Valve Diseases - complications</topic><topic>Heart Valve Diseases - diagnostic imaging</topic><topic>Heart Valve Diseases - genetics</topic><topic>Heart Valve Diseases - pathology</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Pathogenesis</topic><topic>Phenotype</topic><topic>Risk Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Longobardo, Luca, MD</creatorcontrib><creatorcontrib>Jain, Renuka, MD</creatorcontrib><creatorcontrib>Carerj, Scipione, MD</creatorcontrib><creatorcontrib>Zito, Concetta, MD, PhD</creatorcontrib><creatorcontrib>Khandheria, Bijoy K., MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Physical Education Index</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>The American journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Longobardo, Luca, MD</au><au>Jain, Renuka, MD</au><au>Carerj, Scipione, MD</au><au>Zito, Concetta, MD, PhD</au><au>Khandheria, Bijoy K., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle</atitle><jtitle>The American journal of medicine</jtitle><addtitle>Am J Med</addtitle><date>2016-08-01</date><risdate>2016</risdate><volume>129</volume><issue>8</issue><spage>796</spage><epage>805</epage><pages>796-805</pages><issn>0002-9343</issn><eissn>1555-7162</eissn><coden>AJMEAZ</coden><abstract>Abstract Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>27059385</pmid><doi>10.1016/j.amjmed.2016.03.009</doi><tpages>10</tpages></addata></record> |
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| subjects | Animals Aortic Diseases - etiology Aortic Valve - abnormalities Aortic Valve - diagnostic imaging Aortic Valve - pathology Aortic valve disease Aortopathy Bicuspid aortic valve Bicuspid Aortic Valve Disease Cardiovascular disease Congenital diseases Genetic Predisposition to Disease Genotype & phenotype Heart Valve Diseases - complications Heart Valve Diseases - diagnostic imaging Heart Valve Diseases - genetics Heart Valve Diseases - pathology Humans Internal Medicine Pathogenesis Phenotype Risk Factors |
| title | Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle |
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