Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype英文文献资料.docVIP

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Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype英文文献资料.doc

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Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype英文文献资料

HindawiPublishingCorporation CardiologyResearchandPractice Volume2012,ArticleID926975,11pages doi:10.1155/2012/926975 ReviewArticle BicuspidAorticValveandThoracicAorticAneurysm: ThreePatientPopulations,TwoDiseasePhenotypes,and OneSharedGenotype RobertB.Hinton DivisionofCardiology,TheHeartInstitute,CincinnatiChildren’sHospitalMedicalCenter,240AlbertSabinWay, Cincinnati,OH45219,USA CorrespondenceshouldbeaddressedtoRobertB.Hinton,robert.hinton@ Received1March2012;Accepted5July2012 AcademicEditor:MartinMisfeld Copyright?2012RobertB.Hinton.ThisisanopenaccessarticledistributedundertheCreativeCommonsAttributionLicense, whichpermitsunrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalworkisproperlycited. Bicuspidaorticvalve(BAV)andthoracicaorticaneurysm(TAA)aretwodiscretecardiovascularphenotypescharacterizedbylatent progressivediseasestates.ThereisaclearassociationbetweenBAVandTAA;howeverthenatureandextentofthisrelationship is unclear. There are both distinct and overlapping developmental pathways that have been established to contribute to the formationoftheaorticvalveandtheaorticroot,andthematureanatomyofthesedi?erenttissuetypesisintimatelyintertwined. Likewise,humangeneticsstudieshaveestablishedapparentlyseparateandcommoncontributionstotheseclinicalphenotypes, suggestingcomplexinheritanceandasharedgeneticbasisandtranslating3patientpopulations,namely,BAV,TAA,orboth, intoacommonbutdiverseetiology.AbetterunderstandingoftheBAV-TAAassociationwillprovideanopportunitytoleverage molecularinformationtomodifyclinicalcarethroughmoresophisticateddiagnostictesting,improvedcounseling,andultimately newpharmacologictherapies. 1.BicuspidAorticValveIsanIndependentRisk FactorforAorticValveDisease developmental processes has identi?ed early mechanisms thatincitediseaseprocesses. Bicuspid aortic valve (BAV, MIM: 109730) is the most commoncardiovascularmalformation(CVM),occurringin 1-2% of the general population [1], and is a risk factor foraorticvalvedisease(AVD)[2–5]