Andersons pediatric cardiology 286
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denominator.Knowledgeofthedetailsandlimitationsofthesedatasourcesis
importantforcriticalappraisal.Themostcompletedatasourcewouldentailthe
activescreeningofadefinedpopulation-basedcohort.Asensitiveandaccurate
methodofidentificationwouldbeuniversallyappliedtoallsubjectsincludedin
thedenominator.Clinicalassessmentbypediatriccardiologistshasbeenshown
tohavesufficientthoughnotperfectsensitivityandspecificityforclinical
detection,whereasassessmentsbyothertypesofprovidershavefaredless
well.5,6Echocardiographycouldthenbeappliedmoreselectivelyforclinically
suspectedcases,toprovideverificationandspecification.
DefinitionofCases
Regardlessofthedatasourceusedforcaseascertainment,itmustbeclearly
definedwhichspecificlesionswereincludedandexcludedfromthenumerator.
Thispredominatelyappliestolesionsofminorornofunctionalconsequencebut
whichareverycommon,asdiscussedpreviously.Theinclusionorexclusionof
thesetypesoflesionscanhaveanimportantimpactoninflatingtheprevalence
estimate.Inaddition,thetimeperiodafterlivebirthduringwhichcasescouldbe
identifiedshouldbespecifiedandreported.Itshouldbeclearlystatedwhether
casesidentifiedasstillbirthsandcasesdiagnosedbyfetalassessmentbuteither
spontaneouslyorelectivelyabortedareincludedorexcluded.
Relevance
Estimatesofincidenceandprevalence,andthestudyoffactorsinfluencing
them,haverelevancetomanyaspectsofcongenitalcardiacdiseaseandits
management.ThisissummarizedinFig.13.1.
FIG.13.1 Considerationsrelatedtorelevanceofknowledgeofincidence
andprevalenceestimatesofcongenitalheartdisease.
EtiologicAssociations
Acceptingthecaveatsdiscussedearlier,knowledgeoffactorsthatareassociated
withvariationsintheprevalenceofspecificlesions,orgroupsoflesions,may
suggestetiologicinfluences.Thesefactorsmightthenbeusedtotargetprenatal
screeningandcounseling,ortheymightbeamenabletointervention,resultingin
thepreventionofcongenitalcardiacdisease.
SurveillanceandTrendsOverTime
Relatedsomewhattoetiology,thereisanongoinginterestindiscoveringtrends
intheprevalenceofcongenitalcardiacdisease.Ongoingsurveillanceis
necessarytodetectacutechangesinprevalencethatmaybeattributabletoa
specificetiology,suchasoccurredwiththeepidemicofbirthdefectsassociated
withtheuseofthalidomideduringpregnancy.
LikelihoodofDiagnosis
Knowledgeoftherelativefrequencyofspecificlesionscanaidsomewhatin
formulatingdifferentialdiagnosesandinforminganindexofsuspicion.
BurdenofDiseaseandRequirementsfor
Resources
Diseaseinvolvingthecardiovascularsystemcontinuestobethegreatest
contributortoinfantmortalityrelatedtocongenitalmalformations.However,
trendshaveshownsignificantdecreasesinmortalityandanincreasingageat
whichdeathmightoccur.Thesefactorsincreasethepointprevalenceof
congenitalcardiacdiseaseatadvancingagesandhavecreatedagrowing
populationofadultswithcongenitallymalformedhearts.Indeed,thepopulation
ofadultslivingwithcongenitalheartdiseasehaslikelyexceededthatfor
children.
