AnnotatedReferences
CalcagniG,UnoltM,DigilioMC,etal.Congenital
heartdiseaseandgeneticsyndromes:new
insightsintomolecularmechanisms.ExpertRev
MolDiagn.2017;17:861–870.
Recentreviewonanatomicandprognostic
characteristicsofcongenitalheartdefectsin
geneticsyndromes.
PrandstrallerD,MazzantiL,PicchioFM,etal.
Turner'ssyndrome:cardiologicprofileaccording
tothedifferentchromosomalpatternsandlongtermclinicalfollow-upof136non-preselected
patients.PediatrCardiol.1999;20:108–112.
Reviewofgenotype-phenotypecorrelationsfor
congenitalheartdefectsinTurnersyndrome.
KosivKA,GossettJM,BaiS,etal.Congenital
heartsurgeryonIn-hospitalmortalityintrisomy
13and18.Pediatrics.2017;140[e20170772].
Recentdiscussiononin-hospitalmortalityin
trisomy13and18withnewinsights.
BassettAS,McDonald-McGinnDM,DevriendtK,
etal.Practicalguidelinesformanagingpatients
with22q11.2deletionsyndrome.JPediatr.
2011;159:332–339.
Completeandrecentguidelinesforpatientswith
22q11.2deletionsyndrome
(DiGeorge/Velocardiofacialsyndrome).
MarinoB,DigilioMC,ToscanoA,etal.Anatomic
patternsofconotruncaldefectsassociatedwith
deletion22q11.GenetMed.2001;3:45–48.
Reviewofanatomiccharacteristicsofcongenital
heartdefectsinDel22q11.2syndrome.
MichielonG,MarinoB,OrecchioG,etal.Impact
ofDEL22q11,trisomy21,andothergenetic
syndromesonsurgicaloutcomeofconotruncal
heartdefects.JThoracCardiovascSurg.
2009;138:565–570.
Interestingcomparisonofresultsofsurgical
outcomesinpatientswithconotruncalheart
defectsindifferentgeneticsyndromes.
CalcagniG,LimongelliG,D'AmbrosioA,etal.
Cardiacdefects,morbidityandmortalityin
patientsaffectedbyRASopathies.CARNET
studyresults.IntJCardiol.2017;245:92–98.
Recentdataongenotype-phenotypecorrelations
andclinicalandprognosticaspectson
congenitalheartdefectsinRASopathies.
GelbBD,RobertsAE,TartagliaM.
CardiomyopathiesinNoonansyndromeand
otherRASopathies.ProgPediatrCardiol.
2015;39:13–19.
RecentreviewoncardiomyopathyinNoonan
syndrome.
Ruiz-PerezVL,GoodshipJA.Ellis-vanCreveld
syndromeandWeyersacrodentaldysostosisare
causedbycilia-mediateddiminishedresponseto
hedgehogligands.AmJMedGenet.
2009;151C:341–351.
Reviewonclinicalfeaturesandmolecularresults
inEllis-vanCreveldsyndrome.
DigilioMC,GnazzoM,LepriF,etal.Congenital
heartdefectsinmolecularlyprovenKabuki
syndromepatients.AmJMedGenetA.
2017;173:2912–2922.
Recentreviewonanatomictypesofcongenital
heartdefectsinKabukisyndrome.
GoldmuntzE,MooreE,SpinnerNB.The
cardiovascularmanifestationsofAlagille
syndromeandJAG1mutations.MethodsMol
Med.2006;126:217–231.
ReviewofcardiovascularanomaliesinAlagille
syndrome.
SouthgateL,KarountzosASV,SukaloM,etal.
Mutationsofthenotch1receptorareacommon
causeofAdams-Oliversyndromerelatedto
congenitalheartdefects.CircCardiovascGenet.
2015;8:572–581.
IdentificationofthegenecausingAdams-Oliver
syndromeandcongenitalheartdefect:reviewof