Andersons pediatric cardiology 290

cohortandwasoneofthefirststudiestoincludeechocardiographyasamodality
forascertainment,verification,andclassificationofcases.Italsoprospectively
definedthedenominatorforthecohort.From1981to1989,4390infantswith
congenitalheartdiseasewereidentifiedfrom906,646regionallivebirths,giving
anestimateofprevalenceof4.84per1000livebirths.Theprevalenceincreased
throughouttheperiodofstudy,withtheproportionofcaseshavingdiagnostic
confirmationwithechocardiographyincreasing,andthoseconfirmedwith
cardiaccatheterizationdecreasing.Theprevalenceinthepast3yearsofthe
studywas5.5per1000livebirths.Themajorcontributortotheapparent
increaseinprevalencewasanincreaseinthenumberofperimembranousand
muscularventricularseptaldefects,reflectingbetterascertainmentwith
increasinguseandimprovementsinechocardiography.Ventricularseptaldefects
accountedfor33%ofthecases(Table13.7).
Table13.7
DistributionofDiagnosticGroupsinOrderofFrequency(n=4390)
DiagnosticGroup
Ventricularseptaldefect
Pulmonarystenosis
Atrialseptaldefectwithinovalfossa
Atrioventricularseptaldefect
TetralogyofFallot
Transposition
Coarctationofaorta
Hypoplasticleftheartsyndrome
Aorticstenosis
Patentarterialduct
Isomerismofatrialappendages
Double-outletrightventricle
Bifoliateaorticvalve
Cardiomyopathy
Pulmonaryatresiawithintactseptum

Peripheralpulmonaryarterialstenosis
Totallyanomalouspulmonaryvenousreturn
Commonarterialtrunk
Congenitallycorrectedtransposition
Ebsteinmalformation
Tricuspidatresia
Interruptedaorticarch
Otherleft-sidedlesionsa
Double-inletventricle
Otherright-sidedlesionsb
Dividedleftatrium

Number
1411
395
340
326
297
208
203
167
128
104
99
86
84
82
73
65
60

51
47
43
32
31
26
18
9
5

%
32.1
9.0
7.7
7.4
6.8
4.7
4.6
3.8
2.9
2.4
2.3
2.0
1.9
1.9
1.7
1.5
1.4
1.2
1.1

1.0
0.7
0.7
0.6
0.4
0.2
0.1


aIncludes13casesofcoronaryarterialanomalies,7anomaliesoftheaorticarch,5instancesof

mitralvalvarregurgitation,and1casewithdrainageofthesuperiorcavalveintotheleftatrium.
bIncludeseightexamplesofpartiallyanomalouspulmonaryvenousreturnandonepulmonary

arterialsling.
TheBaltimore-WashingtonInfantStudy(1981–89).
FromFerenczC,RubinJD,LoffredoCA,etal.EpidemiologyofCongenitalHeartDisease:The
Baltimore-WashingtonInfantStudy:1981–1989.Vol4.MountKisco,NY:Futura;1993.

TheBaltimore-WashingtonInfantStudyincludedacase-controlstudywithin
itsdesign,withcontrolinfantsrandomlyselectedeachyearofthestudyfromall
liveborninfantswithoutcongenitallymalformedheartsinamannerstratifiedby
thehospitalmanagingthebirths.Acomprehensivequestionnairewascompleted
bystandardizedinterviewsofmothersathomevisits.Thequestionnaire
collecteddataregardingdemographic,maternalhealth,nutritional,genetic,and
environmentalfactors.Thestudydefinedabroadspectrumoffamilialand
geneticfactors,whichwerepresentinjustover33%ofcases.Table13.8shows
theresultsofamultivariableanalysisofpotentialriskfactorswithoutinclusion
ofmaternalreproductivehistoryvariables.Whenthenumberofprevious
pregnanciesisincludedinthemodel,threeormorepregnancies,asopposedto

none,hadanadjustedoddsratioof1.29,andmaternalage,race,familial
noncardiacmalformations,localcontraceptives,andincreasingnumberofdrugs
takenwerenolongersignificantlyassociatedwithcongenitalcardiacdisease.
Whenassociationswithenvironmentalriskfactorswereexaminedseparatelyfor
caseswithandwithoutgeneticriskfactorsincomparisontocontrolswithout
geneticriskfactors,agreaternumberofenvironmentalriskfactorswithstronger
associationswerenotedintheanalysisofcaseswithgeneticriskfactors,
particularlyforexposurestotherapeuticdrugs.Thissuggeststhatenvironmental
factorsmayhaveagreaterinfluenceinthosewithanunderlyinggenetic
susceptibility.
Table13.8
MultivariableModelofPotentialRiskFactorsWithoutMaternal
ReproductiveHistoryVariables(TheBaltimore-WashingtonInfant
Study,1981–89)
Variable
GENETICFACTORSINNUCLEARFAMILY
Familialcongenitalheartdisease
Familialnoncardiacmalformations

AdjustedOddsRatio95%CI
2.20
1.27

1.69–2.85
1.02–1.57


MATERNALFACTORS
Diabetes(overt)
MATERNALAGESCORE

2.97

1.82–4.86

0(<20y)
1(20–29y)
2(30+y)

1.00
1.13
1.28

THERAPEUTICANDRECREATIONALDRUGS
Diazepam
2.14
Phenothiazines
1.74
Cocaine,paternal
1.62
Gastrointestinaldrugs
1.36
Localcontraceptives
0.82
Numberofdrugstaken
1.04a
OCCUPATIONALANDAVOCATIONALEXPOSURES
Extremecoldtemperature,paternal
2.64
Miscellaneoussolvents,maternal

1.42
SOCIODEMOGRAPHICANDOTHERFACTORS
Race(0=nonwhite,1=white)
0.88

–
1.05–1.22
1.10–1.50

1.22–3.77
1.06–2.86
1.26–2.08
1.05–1.76
0.72–0.94
1.01–1.08
1.14–6.12
1.02–1.98
0.79–0.98

aOddsratioperincrementinnumberofdrugs.

CI,Confidenceinterval.
FromFerenczC,RubinJD,LoffredoCA,Magee,CA.EpidemiologyofCongenitalHeartDisease:
TheBaltimore-WashingtonInfantStudy:1981–1989.Vol4.MountKisco,NY:FuturaPublishing
CompanyInc;1993.

TheMetropolitanAtlantaCongenitalDefectsProgram,whichisapopulationbasedsurveillancesystemforbirthdefectsinAtlanta,UnitedStates,reporteda
studyaimedtodeterminetheprevalenceofcongenitalheartdisease.Thestudy
excludedpatentforamenovaleandarterialductsinpreterminfantsand
identified3240casesamong398,140births,whichgaveanestimateofan

overallprevalenceof81.4per10,000births.Themostcommondefectswere
muscularventricularseptaldefect,perimembranousventricularseptaldefect,
andsecundumatrialseptaldefect,withprevalenceof27.5,10.6,and10.3per
10,000births,respectively.TheprevalenceoftetralogyofFallot,themost
commoncyanoticdisease,wastwicethatoftranspositionofthegreatarteries
(4.7vs.2.3per10,000births).Manycommondefectswereassociatedwitholder
maternalageandmultiple-gestationpregnancy.29Fromdatafromthe
MetropolitanAtlantaCongenitalDefectsProgram,therewasnotedtobean
improvementinsurvivalintherecenteraforcriticalcongenitalheartdisease,
whichwasdefinedasthatwhichrequiredsurgeryorcatheterization-based
interventioninthefirstyearoflife.30Thestudyshowedasurvivalto1yearof
82%.30
Criticalcongenitalheartdiseaserepresents25%ofallcongenitalheartdisease
intheUnitedStates.Althoughpatientswithcriticalcongenitalheartdiseasemay