Andersons pediatric cardiology 294
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casesatanygivenpointintimeandisimportant
fordefiningtherequirementforresourcesand
theburdenofdiseasewithinthetotalpopulation.
Thisstudyappliesassumptionsregarding
prevalenceatlivebirthandsurvivaltoestimate
thisnumber,withparticularreferencetoadults
withcongenitallymalformedhearts.
JenkinsKJ,CorreaA,FeinsteinJA,etal.
Noninheritedriskfactorsandcongenital
cardiovasculardefects:currentknowledge:a
scientificstatementfromtheAmericanHeart
AssociationCouncilonCardiovascularDisease
intheYoung:endorsedbytheAmerican
AcademyofPediatrics.Circulation.
2007;115:2995–3014.
Thisisacontemporaryreviewofstudiesestimating
prevalenceaimedatsummarizingnongenetic
riskfactorsofpotentialetiologicandpreventive
relevance.
WilsonPD,etal.Attributablefractionforcardiac
malformations.AmJEpidemiol.1998;148:414–
423.
TheBaltimore-WashingtonInfantStudywasbased
onactivesurveillancewithacase-controldesign
andwasaimedatidentifyingpotentialgenetic
andenvironmentalriskfactors.Thisreport
estimatesthecontributiontotheoccurrenceof
specificdefectsoffamilialandenvironmental
riskfactors.
GillHK,etal.Patternsofrecurrenceofcongenital
heartdisease:ananalysisof6,640consecutive
pregnanciesevaluatedbydetailedfetal
echocardiography.JAmCollCardiol.
2003;42:923–929.
Theinvestigatorsexaminedfetalechocardiograms
forpregnancieswhereeitherthemother,father
orasiblinghadcongenitalcardiacdisease.
Theynotedarecurrenceriskinthefetusof
2.7%,withvariableconcordanceforspecific
lesionsorgroups.
CalcagniG,DigilioMC,SarkozyA,etal.Familial
recurrenceofcongenitalheartdisease:an
overviewandreviewoftheliterature.EurJ
Pediatr.2007;166:111–116.
Thisisacontemporaryreviewofpatternsof
familialrecurrenceandassociatedfactors.
GermanakisI,SifakisS.Theimpactoffetal
echocardiographyontheprevalenceofliveborn
congenitalheartdisease.PediatrCardiol.
2006;27:465–472.
Theseinvestigatorsusedmathematicalmodelingof
theprobabilityoffetalscreening,detectionof
defects,andelectiveterminationtodetermine
thepotentialimpactontheprevalenceatlive
birth.
MarelliAJ,etal.Congenitalheartdiseaseinthe
generalpopulation:changingprevalenceandage
distribution.Circulation.2007;115:163–172.
Theseinvestigatorsusedadministrativedatabases
inthecontextofasystemforhealthcare
providinguniversalcoverage,todeterminethe
pointprevalenceofcongenitalcardiacdiseasein
adults.In2000thepointprevalencewas4.09
per1000adultsforanytypeofdefectand0.38
forseriouslesions.
MitchellSC,KoronesSB,BerendesHW.
Congenitalheartdiseasein56,109births.
Incidenceandnaturalhistory.Circulation.
1971;43:323–332.
Thisstudyisoneofthefirsttouseasurveillance
programinvolvingmajortertiarycentersand
definedprevalenceatbirthof8.14per1000
beforeverificationwithechocardiographywas
possible.Casesdiagnosedatstillbirthwere
included,andanimportantproportionofcases
diagnosedwithclinicalevaluationonlywere
included.
ReportoftheNewEnglandRegionalInfant
CardiacProgram.Pediatrics.1980;65(suppl
2):375–461.
Althoughprimarilyaprogramforhealthcare,a
