Andersons pediatric cardiology 289

Autosomaldominant 50

NKX2.5
GATA4
MHC6

108,109
108
110

ModifiedfromCalcagniG,DigilioMC,SarkozyA,DallapiccolaB,MarinoB.Familialrecurrenceof
congenitalheartdisease:anoverviewandreviewoftheliterature.EurJPediatr.2007;166:111–
116.

SystemicFactors
Systemicfactorsarethosethatresultfromchangestothesystemsproviding
healthcareandincludeimprovedprenataldiagnosisandsurvivalintoadulthood.
Prenataldiagnosisallowsforselectiveterminationandfetalinterventions,which
mayaltertheprevalenceatlivebirth.Improvementsinmanagementofmost
congenitalcardiaclesionshaveledtoimprovedsurvivalintoadulthood.Thishas
resultedindramaticchangesinthepointprevalenceofcongenitalcardiac
disease,itsspectrum,anditsdemographics.


ReportedPrevalenceofCongenitalHeart
Disease
Itisunlikelythatanysinglestudywillgivethedefinitiveestimateofthe
prevalenceofcongenitalheartdefectsbecausesuchstudiesdiffer,sometimes
widely,inmethodology,quality,population,andperiodoftimestudied.Oneof
thefirstreportswasfromacardiacsubstudyoftheCollaborativeStudyof
CerebralPalsy,MentalRetardation,andOtherNeurologicalandSensory

DisordersofInfancyandChildhood,publishedin1971.26Thisstudy
prospectivelyenrolledpregnantmothersat12participatinglargeinstitutions
withintheUnitedStatesandthenrepeatedlyassessedtheinfantsuptotheageof
7years.Thestudyincludedstillbirths.Hospitalandoutpatientrecords,and
autopsyreports,werereviewedfordiagnosesofcongenitalheartdisease.From
56,109births,457caseswereidentified,with178diagnosedatautopsy,36from
surgicalfindings,42fromcardiaccatheterization,and201fromclinical
evaluationonly.Thisgaveanestimateofprevalenceof8.1per1000births.The
prevalenceamonglivebirthsonlywas7.7butamongstillbirthsonlywas27.5.
Forthoseliveborn,theprevalenceamongthosewhodiedearlierthan28days
afterbirthwas73.2per1000deathsandamongthosewhodiedbetween28days
and1yearwas112.6per1000deaths.Ventricularseptaldefectwasthemost
frequentdiagnosis,occurringin133,or30%,ofthe457cases.Table13.6
summarizesfindingsfromsomeofthelargestudiesthathaveevaluatedthe
prevalenceofcongenitalcardiacdisease.
Table13.6
SummaryofSomeImportantStudiesEvaluatingthePrevalenceof
CongenitalCardiacDisease
Reference
Mitchell.26
(Collaborative
StudyofCerebral
Palsy,Mental
Retardation,and
OtherNeurological
andSensory
Disordersof

Study
Period

Before
1971

Study
Country
United
States

Denominatorb StudyDesign
56,000births

Prospective
cohortthat
included
pregnant
womenand
followedtill
ageof7years

Methodof
Verification
Autopsy
Cardiacsurgery
Cardiac
catheterization
Clinical
confirmation

Prevalencea
8.1

Infancyand
Childhood)
ReportoftheNew
EnglandRegional
InfantCardiac
Program.27

1968– United
1974 States

1million
births

Carlgren.35

1981

93,000births

Ferencz.56(The
BaltimoreWashingtonInfant
Study)
Hiraishi.28

1981– United
1989 States

Oster.30

(Metropolitan
AtlantaCongenital
DefectsProgram
Study)

Sweden

Retrospective
review.
Denominator
identified
fromvital
statistics
Retrospective
usingnational
registries

907,000births Prospective
cohortstudy

Before Japan
1000births
1992
1998– Metropolitan 398,000births
2005 Atlanta
United
States

Autopsy
Cardiacsurgery

Cardiac
catheterization

2.08

Autopsy
9.1
Cardiacsurgery
Cardiac
catheterization
Echocardiography
Echocardiography 4.84
Catheterization

Prospective
Echocardiography
cohortstudy
Retrospective Notmentioned
review

24.3
8.14

aCasesper1000.
bApproximatedtotheclosest1000.

TheNewEnglandRegionalInfantCardiacProgrambeganin1969and
includedthesixstatesintheNewEnglandregion.27Medicalrecordsfrom
hospitalsandpractitionerswerereviewed.From1968through1974,2251cases
wereascertained,whichgaveanestimateofprevalenceof2.08per1000births.

Allcasesexcept18wereverifiedbyautopsy,surgery,orcardiaccatheterization.
Theprevalenceincreasedfrom1.82in1969to2.20in1974.Whencaseswere
includedthathadbeenidentifiedonlyfromdeathcertificates,theprevalence
increasedto2.34in1969and2.62in1974.Ventricularseptaldefectsaccounted
forapproximately17%ofthecases.
AnationalstudyfromSwedenusedfourdifferentregistriesforascertainment
ofthosebornalivewithcongenitallymalformedheartsduring1981.28Atotalof
853caseswereidentifiedfrom93,678liveandstillbirths,givingaprevalenceat
birthof9.1per1000.Ofthesecases,75werecodedassuspectedcardiac
malformations,2codedascardiacmalposition,and68withonlyanarterialduct
andabirthweightlessthan2500g.
Oneofthemostcontemporaryestimatesofprevalenceatlivebirthcomes
fromtheBaltimore-WashingtonInfantStudy.4Thisstudyinvolvedanidentified