Andersons pediatric cardiology 2068
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CongenitalCardiacDiseaseinthe
SettingofGeneticSyndromes
M.CristinaDigilio,GiulioCalcagni,MartaUnolt,PaoloVersacci,Bruno
Marino
Abstract
Themajorityofcongenitalheartdefects(CHDs)occurasisolated
malformations,whileapproximately25%to30%ofthemareassociated
withextracardiacanomaliesinthesettingoflargeorsubmicroscopic
chromosomalanomalies,monogenicmendeliandisorders,andgenetic
associations.
SometypesofCHD,suchasatrioventricularcanaldefect(AVCD)and
conotruncalmalformations(IAA),aremorefrequentlyfoundinassociation
withgeneticsyndromessuchasDownsyndromeordeletion22q11.2
syndrome,whereasothertypesareprevalentlyisolateddefects(tricuspid
atresia,transpositionofthegreatarteries,pulmonaryatresia).Nevertheless,
alltypesofCHDsneedtobeevaluatedbyaclinicalgeneticist.Specific
genetictestingshouldbeindicatedinpatientswithextracardiacanomalies
orfamilialrecurrenceofthedisease.Inthelastseveralyears,knowledgein
thisareahasbeenevolvingdramatically,andadvancesinmoleculartesting
areleadingtotheidentificationofanincreasednumberofcausesof
syndromicandisolatedCHDs.Theimprovementinsurgicalrepairofeven
themostchallengingCHDshasallowedthesurvivalofthesepatients,
switchingourperspectivefromanexclusivelycardiacoutcometoa
multispecialistapproach.Severalphenotype-genotypecorrelationstudies
suggestthatspecificmorphogeneticmechanismsputinmotionbygenes
canresultinaspecificcardiacphenotype.Infact,therecognitionofdistinct
cardiacanatomicsubtypemayhelpinsuggestingaccuratediagnosesand
specificmedicalandsurgicaltherapy.Amultidisciplinaryapproach,
checkedfortheriskfactorsrelatedtospecificgeneticsyndromes,canbe
usedinthepatients’treatmentandfollow-up,whichcanbeconfirmedby
moleculartesting.Identificationofspecificsyndromeshasadramatic
impactofmanagement,surgicaloutcomes,long-termoutlook,andgenetic
counselingforfuturepregnancies.
Keywords
Syndrome;Congenitalcardiacdisease;Chromosome;Gene;Phenotype;
Genotype
