pathogeneticconsiderations.
WyseRKH,Al-MahdawiS,BurnJ,etal.
CongenitalheartdiseaseinCHARGE
association.PediatrCardiol.1993;14:75–81.
ReviewofcongenitalheartdefectsinCHARGE
syndrome.
DigilioMC,CalzolariF,CapolinoR,etal.
Congenitalheartdefectsinpatientswithoculoauriculo-vertebralspectrum(Goldenhar
syndrome).AmJMedGenet.2008;146A:1815–
1819.
ReviewofcongenitalheartdefectsinGoldenhar
syndrome.
DigilioMC,MarinoB,GiannottiA,Dallapiccola
B,OpitzJM.Specificcongenitalheartdefectsin
RSH/Smith-Lemli-Opitzsyndrome:postulated
involvementofthesonichedgehogpathwayin
syndromeswithpostaxialpolydactylyor
heterotaxy.BirthDefectsResAClinMolTeratol.
2003;67:149–153.
Reviewonpathogeneticconsiderationsregarding
therelationshipbetweenciliopathiesandSonic
Hedgehogpathway.
References
1.FerenczC,RubinJD,LoffredoCA.
EpidemiologyofCongenitalHeartDisease.The
Baltimore-WashingtonInfantStudy.1981-1989.
FuturaPublishingCompanyInc:MountKisco,
NewYork;1993.
2.MillerA,Riehle-ColarussoT,AlversonCJ,Frias
JL,CorreaA.Congenitalheartdefectsand
majornoncardiacanomalies,Atlanta,Georgia,
1968to2005.JPediatr.2011;159:70–78.
3.WimalasunderaRC,GardinerHM.Congenital
heartdiseaseandaneuploidy.PrenatDiagn.
2004;24:1116–1122.
4.delaCruzMV,Sanchez-GomezC,Arteaga
MM,ArguelloC.Experimentalstudyofthe
developmentofthetruncusandtheconusinthe
chickembryo.JAnat.1977;123:661–686.
5.MarinoBS,LipkinPH,NewburgerJW,etal.
Neurodevelopmentaloutcomesinchildrenwith
congenitalheartdisease:evaluationand
management:ascientificstatementfromthe
Americanheartassociation.Circulation.
2012;126:1143–1172.
6.BurnhamN,IttenbachRF,StallingsVA,etal.
Geneticfactorsareimportantdeterminantsof
impairedgrowthafterinfantcardiacsurgery.J
ThoracCardiovascSurg.2010;140:144–149.
7.PradatP,FrancannetC,HarrisJA,etal.The
epidemiologyofcardiovasculardefects,PartI:a
studybasedondatafromthreelargeregistriesof
congenitalmalformations.PediatrCardiol.
2003;24:195–221.
8.RobinsonWM,NewburgerJW.Ethicalissues
concerningcardiacsurgeryinpatientswith
syndromicabnormalities.SeminThorac
CardiovascSurgPediatrCardSurgAnnu.
2003;6:147–151.
9.FormigariR,MichielonG,DigilioMC,etal.
Geneticsyndromesandcongenitalheartdefects:
howissurgicalmanagementaffected?EurJ
CardiothoracSurg.2009;35:606–614.
10.MarinoB,DigilioMC.Congenitalheartdisease
andgeneticsyndromes:specificcorrelation
betweencardiacphenotypeandgenotype.
CardiovascPathol.2000;9:303–315.
11.CalcagniG,UnoltM,DigilioMC,etal.
Congenitalheartdiseaseandgeneticsyndromes:
newinsightsintomolecularmechanisms.Expert
RevMolDiagn.2017;17:861–870.
12.PueschelSM.ClinicalaspectsofDown
syndromefrominfancytoadulthood.AmJMed
GenetSuppl.1990;7:52–56.