inTurnersyndrome:twocasesandreviewof85
casesintheliterature.BMJCaseRep.
2009;2009[bcr0620091998].
29.MacCarrickG,BlackJH3rd,BowdinS,etal.
Loeys-Dietzsyndrome:aprimerfordiagnosis
andmanagement.GenetMed.2014;16(8):576–
587.
30.GlickBN,RobertsWC.Congenitallybicuspid
aorticvalveinmultiplefamilymembers.AmJ
Cardiol.1994;73(5):400–404.
31.ClementiM,NotariL,BorghiA,TenconiR.
Familialcongenitalbicuspidaorticvalve:a
disorderofuncertaininheritance.AmJMed
Genet.1996;62(4):336–338.
32.HuntingtonK,HunterAG,ChanKL.A
prospectivestudytoassessthefrequencyof
familialclusteringofcongenitalbicuspidaortic
valve.JAmCollCardiol.1997;30(7):1809–
1812.
33.GargV,MuthAN,RansomJF,etal.Mutationsin
NOTCH1causeaorticvalvedisease.Nature.
2005;437(7056):270–274.
34.EllisonJW,YagubyanM,MajumdarR,etal.
Evidenceofgeneticlocusheterogeneityfor
familialbicuspidaorticvalve.JSurgRes.
2007;142(1):28–31.
35.GuoDC,PapkeCL,Tran-FaduluV,etal.
Mutationsinsmoothmusclealpha-actin
(ACTA2)causecoronaryarterydisease,stroke,
andmoyamoyadisease,alongwiththoracic
aorticdisease.AmJHumGenet.
2009;84(5):617–627.
36.PrakashSK,BosseY,MuehlschlegelJD,etal.A
roadmaptoinvestigatethegeneticbasisof
bicuspidaorticvalveanditscomplications:
insightsfromtheinternationalBAVCon
(bicuspidaorticvalveconsortium).JAmColl
Cardiol.2014;64(8):832–839.
37.HickeyEJ,CaldaroneCA,McCrindleBW.Left
ventricularhypoplasia:aspectrumofdisease
involvingtheleftventricularoutflowtract,aortic
valve,andaorta.JAmCollCardiol.2012;59(1
suppl):S43–S54.
38.RobicsekF,ThubrikarMJ,CookJW,FowlerB.
Thecongenitallybicuspidaorticvalve:howdoes
itfunction?Whydoesitfail?AnnThoracSurg.
2004;77(1):177–185.
39.NkomoVT,Enriquez-SaranoM,AmmashNM,
etal.Bicuspidaorticvalveassociatedwithaortic
dilatation:acommunity-basedstudy.
ArteriosclerThrombVascBiol.2003;23(2):351–
356.
40.CecconiM,ManfrinM,MoracaA,etal.Aortic
dimensionsinpatientswithbicuspidaorticvalve
withoutsignificantvalvedysfunction.AmJ
Cardiol.2005;95(2):292–294.
41.BondermanD,Gharehbaghi-SchnellE,Wollenek
G,etal.Mechanismsunderlyingaorticdilatation
incongenitalaorticvalvemalformation.
Circulation.1999;99(16):2138–2143.
42.NiwaK,PerloffJK,BhutaSM,etal.Structural
abnormalitiesofgreatarterialwallsincongenital
heartdisease:lightandelectronmicroscopic
analyses.Circulation.2001;103(3):393–400.
43.GrossmanW,JonesD,McLaurinLP.Wallstress
andpatternsofhypertrophyinthehumanleft
ventricle.JClinInvest.1975;56(1):56–64.
44.ReichekN,DevereuxRB.Leftventricular
hypertrophy:relationshipofanatomic,
echocardiographicandelectrocardiographic
findings.Circulation.1981;63(6):1391–1398.
45.GaaschWH,ZileMR.Leftventricularstructural
remodelinginhealthanddisease:withspecial
emphasisonvolume,mass,andgeometry.JAm
CollCardiol.2011;58(17):1733–1740.
46.FreyN,KatusHA,OlsonEN,HillJA.
Hypertrophyoftheheart:anewtherapeutic
target?Circulation.2004;109(13):1580–1589.
47.RaderF,SachdevE,ArsanjaniR,SiegelRJ.Left
ventricularhypertrophyinvalvularaortic
stenosis:mechanismsandclinicalimplications.