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Chapter09:AdultCongenitalHeartDisease
RelatedQuestions
Previous:ValvularHeartDisease

AdultCongenitalHeartDisease

Introduction
Advancesincareofpatientswithcongenitalheartdiseaseoverthepastsixdecadeshaveresultedin
moreadultsthanchildrenlivinginNorthAmericawiththeseconditions.Cardiovascularresiduaare
commoninpatientswithpreviousinterventionforcongenitalcardiaclesions,underscoringthe
importanceofperiodicinformedfollowupbyateamconsistingideallyoftheinternistandanadultor
pediatriccardiologisttrainedinadultcongenitalheartdisease.Specializedcareisparticularly
importantforpatientswithcomplexandcyanoticcongenitalcardiacdisease.Congenitalheart
conditionsmaybefirstidentifiedduringpregnancyorsymptomstatusmaybeworsenedbythe
physiologicchangesofpregnancy.Decisionsregardingthesafetyofpregnancyinpatientswith
congenitalcardiacdiseaseandmanagementduringpregnancyshouldbemadeonanindividualbasis
inconsultationwithacongenitalheartdiseasespecialist.

PatentForamenOvale
RelatedQuestions
Question10
Question55
Question96
Theforamenovaleallowstransferofoxygenatedplacentalbloodtothefetalcirculationandusually
closeswithinthefirstfewweeksoflife.In25%to30%ofthepopulation,however,theforamenovale
remainspatent(Figure27).Patentforamenovale(PFO)isusuallyasymptomaticandidentified
incidentally.NotreatmentorfollowupisneededforthePFOfoundincidentallyinanasymptomatic
patient.
PFOisdiagnosedbyvisualizingtheinteratrialseptumbyechocardiographyanddemonstrating
shuntingofbloodacrossthedefectbycolorflowDopplerimagingorbyusingagitatedsalineinjected
intravenouslyandsubsequenttransferthroughthePFOfromrighttoleftatrium.Iftransthoracic
echocardiography(TTE)isnondiagnostic,transesophagealechocardiography(TEE)usuallyprovides
improvedvisualizationoftheatrialseptum.
AntiplatelettherapyisrecommendedasfirstlinetherapyforpatientswithPFOandcryptogenic
stroke.ResultsofrandomizedcontrolledtrialsofdeviceclosureforcrytogenicstrokeandPFOhave
notdemonstratedbenefitcomparedwithmedicaltherapyforsecondarystrokeprevention.Patients
withcryptogenicstrokeandPFOmaybetreatedwithantiplateletoranticoagulanttherapyandshould
beencouragedtoparticipateinoneoftheongoingtrialscomparingclosurewithmedicaltherapy.
ThereisnoindicationforPFOclosureorforantiplatelettherapyinasymptomaticpatients.

ObservationalstudieshavesuggestedanassociationbetweenPFOandmigraine.However,
randomizedstudiesofPFOclosuretopreventmigrainerecurrencehavenotshownbeneficialeffect,
andPFOclosureshouldnotbeperformedfortheprophylaxisofmigraine.
Rarely,aPFOmaybeassociatedwiththeplatypneaorthodeoxiasyndrome.Platypneaorthodeoxia
syndromeisanacquireddisordercharacterizedbycyanosisanddyspneaintheuprightposition.These
symptomsarerelatedtorighttoleftshuntingacrossaPFOoratrialseptaldefectandarecausedbya
transientincreaseinrightatrialpressure,whichoccursasacomplicationofrightventricular
myocardialinfarction,pulmonaryembolism,tricuspidregurgitation,oracuterightheartfailure.
DevicePFOclosureinthesepatientsmaydecreasehypoxemiaandcyanosis.
Atrialseptalaneurysmisredundantandmobileatrialseptaltissue.Notreatmentisneededwhenatrial
septalaneurysmisdiscoveredincidentally.AtrialseptalaneurysminconjunctionwithaPFO
reportedlyincreasestheriskofstrokecomparedwithaPFOalone.Antiplatelettherapyis
recommendedforpatientswithcryptogenicstrokeandanisolatedatrialseptalaneurysm.Inpatients
withatrialseptalaneurysmandrecurrentstrokeonantiplatelettherapy,anticoagulanttherapyis
recommendedifnoothercauseofstrokeisidentified.Rarely,surgicalexcisionofanatrialseptal
aneurysmanddefectclosureisconsideredifantiplateletorwarfarintherapyfailstopreventstroke
recurrence.

KeyPoints
Antiplatelettherapyisrecommendedasfirstlinetherapyforpatientswithpatentforamenovale
andcryptogenicstroke.
Thereisnoindicationforpatentforamenovaleclosureorforantiplatelettherapyin
asymptomaticpatients.
Randomizedtrialsdonotsupportpatentforamenovaleclosuretoreduceriskofrecurrentstroke
ormigraine.

AtrialSeptalDefect
PathophysiologyandGenetics
Anatrialseptaldefect(ASD)isacommunicationbetweentheatria.Lefttorightshuntoccursand,
overtime,causesrightsidedcardiacchamberdilatation.Defectsareclassifiedaccordingtolocation
(Figure28).OstiumsecundumASDsarethemostcommontype(75%ofcases).Thesearelocatedin
themiddleportionoftheatrialseptumandareusuallyisolatedanomalies.Ostiumprimumdefects
(15%20%ofcases)arelocatedinthelowestportionoftheatrialseptumtheyarecommonly
associatedwithacleftmitralvalve,ventricularseptaldefect,andsubaorticstenosis,acollectionof
abnormalitiestermedendocardialcushiondefect.Sinusvenosusdefects(5%10%ofcases)are
usuallylocatednearthesuperiorvenacavaor,rarely,neartheinferiorvenacava.Morethan90%of
patientswithsinusvenosusASDhaveassociatedanomaliesofpulmonaryvenousconnection.A
coronarysinusASD(<1%ofcases)isacommunicationbetweenthecoronarysinusandtheleft
atrium.Thesedefectsarecommonlyassociatedwithcomplexcongenitalheartlesionsorapersistent
leftsidedsuperiorvenacava.
MostASDsoccursporadicallyhowever,severalgeneticsyndromesassociatedwithASDsare
recognized.TheHoltOramsyndromeinvolvesbilateralupperextremityboneabnormalitiesand
congenitalheartdefects,mostcommonlyanASD.FamilialostiumsecundumASDshavealsobeen
describedandmaybeautosomaldominantorarelinkedtochromosome5.Downsyndromeis
commonlyassociatedwithcongenitalheartdisease,mostcommonlyaformofatrioventricularseptal
defect,includingostiumprimumASD.

ClinicalPresentation
RelatedQuestion
Question29
ASDsmayinitiallybeidentifiedinadulthoodtheageofpresentationdependsontheshuntsizeand
associateddefects.Commonpresentingfeaturesincludefatigueexertionaldyspneaatrialfibrillation
paradoxicalembolismandabnormalitiesonthephysicalexamination,includingapulmonaryoutflow
murmurorfixedsplittingofS2or,lesscommonly,findingsthatareconsistentwithagenetic
syndromeinvolvinganASD.Occasionally,anASDisidentifiedasthecauseforrightheart
enlargementfoundincidentallyonanechocardiogram.Rarely,patientswithisolatedASDspresent
withpulmonaryarterialhypertension(PAH)thisusuallyoccursinyoungwomen,suggestingthe
coexistenceofidiopathicPAH.
ClinicalfindingsinASDincludejugularvenousdistention,aparasternalimpulse,andasystolicflow
murmuratthesecondleftintercostalspace.Largeshuntsmaycauseadiastolicflowrumbleacrossthe
tricuspidvalveowingtoalargelefttorightshunt.FixedsplittingoftheS2isthecharacteristic
auscultatoryfindinginpatientswithanASD.

DiagnosticEvaluation
RelatedQuestion
Question104
Theelectrocardiogram(ECG)andchestradiographfindingsinpatientswithASDsareoutlinedin
Table40.CompleteheartblockmayoccurinfamilialASD.
TTEisthediagnosticimagingmodalityofchoiceforidentificationofostiumprimumandsecundum
ASDs.AdditionalfindingsonTTEincluderightsidedcardiacchamberenlargement,tricuspid
regurgitationrelatedtoannulardilatation,andincreasedrightventricularsystolicpressure.Agitated
salinecontrastinjectionmayhelpidentifyarighttoleftatrialshuntifEisenmengersyndromeis
suspected(seeAdultswithCyanoticCongenitalHeartDisease,later).Sinusvenosusandcoronary
sinusASDsarelessreadilydiagnosedbyTTEinadultsandoftenrequireTEE,MRI,orCTimaging.
MRIandCTcanbeusedtoquantifyrightventricularvolumesandejectionfraction.Thesestudiesare
rarelyusedastheprimaryimagingmodalitywhenASDissuspectedbutmayhelpquantifyrightheart
enlargementinapatientwithASD.Inaddition,aCTorMRIperformedforanotherreasonmaybethe
firstimagingstudytodemonstratetheASD.MRI,CT,andTEEareusefulforidentifyinganomalous
pulmonaryveins.
Cardiaccatheterizationistheonlyreliablemethodtocalculatethepulmonarytosystemicbloodflow
ratio(Qp:Qs)butisrarelyrequiredforuncomplicatedASDs.Cardiaccatheterizationmaybe
recommendedinthepatientwithanASDandPAHtoaidindeterminingwhetherASDclosureis
indicated.

Treatment
SymptomsandrightsidedcardiacchamberenlargementarethemainindicationsforASDclosure.
Closureshouldalsobeconsideredforpatientswithplatypneaorthodeoxiasyndromeandpatientswith
intracardiacshuntbeforepacemakerplacementbecauseoftheincreasedriskofsystemic
thromboembolism.Otherconsiderationsincludepatientage,defectsizeandlocation,andassociated

abnormalitiessuchasrightheartenlargement,moderate(orless)hypertension,andtricuspid
regurgitation.AsmallASD(Qp:Qs<1.5:1.0)withnoassociatedsymptomsorrightheartenlargement
canbefollowedclinically.
PercutaneousinterventioninvolvesclosureoftheASDusingadevicedeliveredviathevenoussystem
inthecatheterizationlaboratory.Thisisthepreferredtreatmentforpatientswithanisolatedostium
secundumASDandrightsidedcardiacchamberenlargementbutnootherassociatedcardiovascular
abnormalitythatrequiresoperativeintervention.Surgicalclosureisindicatedforverylargeostium
secundumASDsorinsufficientseptalanatomyfordeviceclosureforallothertypesofASDsandfor
patientswithanytypeofASDwhenthereiscoexistentcardiovasculardiseasethatrequiresoperative
intervention,suchascoronaryarterydiseaseortricuspidvalveregurgitation.
PatientswithseverePAHandanASDmaybeconsideredforclosureprovidingthereispersistentleft
torightshuntandnoevidenceoffixedpulmonaryvasculardisease.Standardmedicaltherapyfor
PAHshouldalsobeconsidered.
PatientswithanisolatedanomalouspulmonaryvenousconnectionmaypresentwithclinicalandTTE
featuressimilartoanASD,butnoatriallevelshuntduringagitatedsalinecontraststudy.Ahigh
clinicalindexofsuspicionshouldpromptfocusedimagingwithTEE,CT,orMRI.
PatientswithsmallASDsdonotneedanylimitationofphysicalactivity.Inpatientswithlargeleftto
rightshunts,exerciseisoftenselflimitedowingtodecreasedcardiopulmonaryfunction.Ifpulmonary
vasculardiseaseispresent,patientsshouldbeadvisedagainstisometricorcompetitiveexercise.
PregnancyinpatientswithASDisgenerallywelltoleratedintheabsenceofPAH.Theriskof
congenitalheartdiseasetransmissioninpatientswithsporadicASDisestimatedtobelessthan10%.
Geneticsyndromeshavevariableinheritanceafamilyhistoryshouldbetaken.HoltOramsyndrome
isinheritedinanautosomaldominantfashion.

FollowupAfterAtrialSeptalDefectClosure
ClinicalfollowupisrecommendedforalladultpatientsaftersurgicalordeviceASDclosurethe
frequencyoffollowupshouldbeindividualized.TTEimagingisgenerallyrecommendedwithinthe
firstyearafterclosureandthenperiodicallyafterthat.Preandpostclosureatrialfibrillationoccurs
morefrequentlytheolderthepatientisatthetimeofASDclosure.Rarecomplicationsafterdevice
closureincludedevicemigration,erosionintotheaortaorpericardium,andsuddendeath.Chestpain
orsyncopeafterdeviceclosurewarrantsurgentevaluationfordeviceerosion.

KeyPoints
FixedsplittingoftheS2isthecharacteristicauscultatoryfindinginpatientswithanatrialseptal
defect.
Asmallatrialseptaldefect(pulmonarytosystemicbloodflowratio[Qp:Qs]<1.5:1)withno
associatedsymptomsorrightheartenlargementcanbefollowedclinically.
Symptomsandrightsidedcardiacchamberenlargementarethemainindicationsforatrial
septaldefectclosure.

VentricularSeptalDefect
Pathophysiology
Ventricularseptaldefects(VSDs)arecommonatbirth,butthefrequencydecreasesbyadulthood

becauseofspontaneousclosureofsmalldefects.VSDsaredefinedbytheirlocationontheventricular
septum(Figure29).ThemostcommontypeofVSDisperimembranous,comprising80%ofcases
theseareusuallyisolatedabnormalities.SubpulmonaryVSDs(alsocalledoutletorsupracristalVSDs)
accountforapproximately6%ofdefectsinthenonAsianpopulationand33%inAsians.
Spontaneousclosureofthesedefectsisrare,andprogressiveaorticvalveregurgitationiscommon
owingtoaorticcuspdistortion.MuscularVSDs(10%ofcases)canbelocatedanywhereinthe
ventricularseptumandmaybesingleormultiplethesedefectsusuallyclosespontaneously.Inlet
defects(4%)occurinthesuperiorposteriorportionoftheventricularseptumadjacenttothetricuspid
valve.Thesedefectsoccuraspartoftheatrioventricularseptaldefectcomplexandare
characteristicallyseeninpatientswithDownsyndrome.

ClinicalPresentation
ClinicalpresentationofanisolatedVSDdependsonthedefectsizeandpulmonaryvascular
resistance.PatientswithasmallVSDandnoPAHpresentwithaloudholosystolicmurmurlocatedat
theleftsternalborderthatoftenobliteratestheS2andmaybepalpable.SmallVSDsdonotcauseleft
heartenlargementorPAH.
AmoderatesizedVSDwithamoderatelefttorightshuntmaycauseleftventricularvolumeoverload
andPAH.Patientsremainasymptomaticformanyyearsbuteventuallypresentwithsymptomsof
heartfailure.Theleftventricularimpulsemaybedisplaced,suggestingvolumeoverload.A
holosystolicmurmurisnotedattheleftsternalborderthedurationandqualitydependonthepressure
gradientbetweentheleftandrightventricles.ProgressivePAHresultsinshorteningofthemurmur.
LargeVSDsassociatedwithmoderateorlargelefttorightshuntsareusuallydetectedinchildhood
bythepresenceofamurmur,heartfailure,andfailuretothrive.Unlessclosureisperformedearlyin
life,fixedPAHwillensuewithinseveralyears,resultinginEisenmengersyndromeandrighttoleft
shuntreversal.

DiagnosticEvaluation
TheECGandchestradiographfindingsinpatientswithVSDsareoutlinedinTable40.TTEisthe
primarydiagnostictestforpatientsinwhomaVSDissuspected.TTEallowsdeterminationofthe
location,size,andhemodynamicimpactoftheVSDinmostpatients,alongwiththepresenceor
absenceofassociatedvalveregurgitation,PAH,andleftheartenlargement.MRIorCTimagingmay
beusedinselectpatientsfordelineationofcardiacanatomyinpatientswithlimited
echocardiographicimagesandmeasurementofventricularvolumes.Cardiaccatheterizationisrarely
performedtoconfirmthediagnosisbutishelpfulindelineatingpulmonaryvasculardiseaseandthe
Qp:Qsratio.

Treatment
RelatedQuestion
Question45
AlthoughpercutaneousdeviceclosureispossibleforselectVSDs,mostpatientsaretreatedsurgically.
ClosureofaVSDisgenerallyindicatedwhenthereisasignificantshunt(Qp:Qsratiois2.0or
greater),andthereisevidenceofleftventricularvolumeoverloadanadditionalindicationforclosure
isahistoryofendocarditis.
ForsmallVSDswithasmalllefttorightshuntandnoleftheartenlargementorvalvedisease,
observationisappropriatewithperiodicclinicalevaluationandimaging.LargeVSDswithrightto

leftshuntreversalandPAH(Eisenmengersyndrome)shouldnotbeclosedclosurewillresultin
clinicaldeteriorationduetoreductionincardiacoutput.
PatientswithasmallVSDrequirenoactivityrestrictions.Ifpulmonaryvasculardiseaseispresent
(pulmonaryarterysystolicpressure>50mmHg),patientsshouldbeadvisedagainstisometricor
competitiveexercise.
IntheabsenceofPAH,pregnancyinwomenwithVSDsisgenerallywelltolerated.Womenwith
VSDsandassociatedPAHshouldbecounseledagainstpregnancy.

FollowupAfterVentricularSeptalDefectClosure
ComplicationsfollowingVSDrepairincluderesidualorrecurrentVSD,arrhythmias,PAH,
endocarditis,andaorticortricuspidvalveregurgitation.CardiovascularevaluationwithTTEimaging
isrecommendedwithin1yearofVSDclosure.SubsequentclinicalandTTEfollowupfrequency
dependsonclinicalandcardiacstatus.AnticoagulationisnotroutinelyrecommendedfollowingVSD
closure.

KeyPoints
Forsmallventricularseptaldefectswithasmalllefttorightshuntandnoleftheartenlargement
orvalvedisease,observationisappropriatewithperiodicclinicalevaluationandimaging.
Closureofaventricularseptaldefectisindicatedwhenthepulmonarytosystemicbloodflow
ratio(Qp:Qs)is2.0orgreater,andthereisevidenceofleftventricularvolumeoverloadora
historyofendocarditis.
Largeventricularseptaldefectswithrighttoleftshuntreversalandpulmonaryarterial
hypertension(Eisenmengersyndrome)shouldnotbeclosedasclosurewillresultinclinical
deterioration.

PatentDuctusArteriosus
Pathophysiology
Patentductusarteriosus(PDA)isthepersistenceofthearterialductthatconnectstheaortaandthe
pulmonaryarteryinthefetus.MaternalrubellaandneonatalprematuritypredisposetoPDA.The
PDAmaybeanisolatedabnormalityorassociatedwithothercongenitalcardiacdefects.

ClinicalPresentation
RelatedQuestion
Question22
APDAproducesanarteriovenousfistula,usuallyresultinginacontinuousmurmurthatenvelopsthe
S2.AtinyPDAisgenerallyasymptomaticandinaudible.PatientswithamoderatesizedPDAmay
presentwithsymptomsofdyspneaandheartfailure.Acontinuousmachinerymurmurisheard
beneaththeleftclavicle.Boundingpulsesandawidepulsepressuremayalsobenoted.
AlargePDAcausesalargelefttorightshuntand,ifunrepaired,maycausePAHwitheventualshunt
reversalfromrighttoleft(Eisenmengersyndrome).AcharacteristicfeatureofanEisenmengerPDA
isclubbingandoxygendesaturationthataffectsthefeetbutnotthehandsowingtodesaturatedblood
reachingthelowerpartofthebodypreferentially(differentialcyanosis).

DiagnosticEvaluation
TheECGandchestradiographfindingsinpatientswithPDAareoutlinedinTable40.TTEwith
colorflowDopplerimagingusuallyconfirmsthepresenceofaPDA.InpatientswithseverePAH,the
PDAmaybedifficulttovisualizeowingtoequalizationofpressuresintheaortaandpulmonary
artery.InpatientswithaPDAandelevatedpulmonaryarterypressures,cardiaccatheterizationisused
todeterminereversibilityandshuntsize.AngiographyconfirmsthesizeandshapeofthePDAand
helpstodeterminewhetherpercutaneousclosureisfeasible.CardiacCTandMRImayidentifyaPDA
butarenotusedasprimarydiagnostictechniques.

Treatment
ClosureofaPDAisindicatedforleftsidedcardiacchamberenlargementintheabsenceofsevere
PAH.Closuremaybeperformedsurgicallyorpercutaneouslyhowever,surgicalclosureofacalcified
PDAmaybechallenging.Referraltoacongenitalcardiaccenterforconsiderationofclosureoptions
isappropriateforthesepatients.
AtinyPDArequiresnointervention.InpatientswithasmallPDAandpriorendocarditis,closureis
suggested.AmoderatesizedPDAisgenerallyclosedpercutaneously.AlargePDAwithseverePAH
andshuntreversalshouldbeobserved,asclosuremaybedetrimental.Inthesepatients,medical
therapyforPAHshouldbeconsidered.
PatientswithasmallPDAwithoutPAHdonotneedanylimitationofphysicalactivity.
AnticoagulationisnotroutinelyrecommendedforpatientswithPDAorfollowingPDAclosure.

KeyPoints
Closureofapatentductusarteriosusisindicatedforleftsidedcardiacchamberenlargementin
theabsenceofseverepulmonaryarterialhypertension.
Alargepatentductusarteriosuswithseverepulmonaryarterialhypertensionandshuntreversal
shouldbeobservedasclosuremaybedetrimental.

PulmonaryValveStenosis
Pathophysiology
Pulmonaryvalvestenosisisusuallyanisolatedcongenitalcardiaclesion,causingobstructiontoright
ventricularoutflow.Noonansyndrome,anautosomaldominantdisorder,isoftenassociatedwith
isolatedpulmonaryvalvestenosisorothercongenitalcardiacdefects.AdditionalfeaturesofNoonan
syndromeincludeshortstature,variableintellectualimpairment,uniquefacialfeatures,neckwebbing,
andhypertelorism.

ClinicalPresentation
Patientswithmildormoderatepulmonaryvalvestenosisaregenerallyasymptomatic,whereasthose
withseverestenosismayhaveexertionaldyspnea.Onphysicalexamination,mildpulmonaryvalve
stenosisischaracterizedbyanormaljugularvenouswaveformandprecordialimpulse.Apulmonary
ejectionclickdecreaseswithinspiration.Moderateorseverepulmonaryvalvestenosisresultsinright
ventricularhypertrophywitharesultantprominentawaveonthejugularvenouspressurewaveform
andarightventricularlift.Anejectionclickmaybeaudible,butastheseverityofpulmonaryvalve
stenosisprogresses,theclickdisappearsowingtolossofvalvepliability.Anejectionsystolic
murmur,heardattheleftsternalborder,increasesinintensityanddurationastheseverityof

pulmonaryvalvestenosisworsens.ThepulmonaryvalvecomponentofS2isdelayedandeventually
disappearswithincreasingseverity.ArightventricularS4isheardinseverepulmonaryvalve
stenosis.

DiagnosticEvaluation
TheECGandchestradiographfindingsinpatientswithpulmonaryvalvestenosisareoutlinedin
Table40.TTEwithDopplerconfirmsthepresenceofpulmonaryvalvestenosisandallows
assessmentofitsseverity.Pulmonaryvalvestenosisisconsideredsevereifthepeakgradientis60
mmHgorgreater.Pulmonarycuspmobility,calcification,andtheeffectsofobstructionontheright
ventriclemayaffecttreatmentoptions.Rightventricularhypertrophyisexpectedinpatientswith
pulmonaryvalvestenosis,butwhenrightheartenlargementoccurs,anassociatedlesion,suchas
pulmonaryregurgitationoranASD,shouldbesuspected.Cardiaccatheterizationisprimarilyused
whenpercutaneousinterventionisconsidered.MRIandCTarenotroutinelyusedinpatientswith
pulmonaryvalvestenosis.

Treatment
RelatedQuestion
Question72
Pulmonaryballoonvalvuloplastyisthetreatmentofchoiceforpulmonaryvalvestenosisandis
indicatedforasymptomaticpatientswithappropriatepulmonaryvalvemorphologywhohaveapeak
instantaneousDopplergradientofatleast60mmHgorameangradientgreaterthan40mmHgand
pulmonaryvalveregurgitationthatislessthanmoderate.Balloonvalvuloplastyisalsorecommended
forsymptomaticpatientswithappropriatevalvemorphologywhohaveapeakinstantaneousDoppler
gradientofgreaterthan50mmHgorameangradientgreaterthan30mmHg.Operativeintervention
isrecommendedforpulmonaryvalvestenosisassociatedwithasmallpulmonaryannulus,morethan
moderatepulmonaryregurgitation,severesubvalvarorsupravalvarpulmonarystenosis,oranother
cardiaclesionthatrequiresoperativeintervention.
Patientswithpreviouspulmonaryballoonorsurgicalvalvuloplastyrarelyhaveresidualpulmonary
stenosisbutareatincreasedriskforpulmonaryvalveregurgitation.LongtermclinicalandTTE
followupisrecommendedafterinterventionthefrequencydependsontheseverityofpulmonary
valveregurgitation.
Patientswithpulmonaryvalvestenosisandapeakgradientbelow50mmHgdonotrequireexercise
restriction.Patientswithmoreseverestenosisshouldparticipateonlyinlowintensitysports.
Pregnancyisgenerallywelltoleratedinwomenwithpulmonaryvalvestenosisunlessthelesionis
severe.Percutaneousvalvotomyhasbeenperformedduringpregnancy.

KeyPoint
Pulmonaryballoonvalvuloplastyisthetreatmentofchoiceforseverepulmonaryvalvestenosis.

AorticCoarctation
Pathophysiology

Aorticcoarctationisadiscreteaorticnarrowing,usuallylocatedjustbeyondtheleftsubclavianartery,
causinghypertensionproximalandreducedbloodpressuredistaltotheaorticnarrowing.

ClinicalPresentation
RelatedQuestion
Question35
Patientswithaorticcoarctationmaybeasymptomaticorpresentwithhypertension,symptomsof
exertionallegfatigue,orheadaches.Upperextremityhypertensionandreducedbloodpressureand
pulseamplitudeinthelowerextremitiesarecharacteristicfindingsandcausearadialarteryto
femoralarterypulsedelay.Morethan50%ofpatientswithaorticcoarctationhaveabicuspidaortic
valve.
Turnersyndromeisachromosomalabnormality(45,X)characterizedbyafemalewithshortstature,a
broadchestwithwidelyspacednipples,webbedneck,andaorticcoarctation.Aorticcoarctationis
alsoassociatedwithbicuspidaorticvalve,aorticvalveandsubaorticstenosis,parachutemitralvalve,
VSD,andcerebralarteryaneurysms.
Thecharacteristicmurmurofaorticcoarctationisasystolicmurmurheardintheleftinfraclavicular
regionorovertheback.Whensevere,themurmurmaybecontinuous,andamurmurfromcollateral
intercostalvesselsmayalsobeaudibleandpalpableoverthechestwall.Inpatientswithaortic
coarctationandabicuspidaorticvalve,anejectionclickorasystolicmurmurmaybeheard.AnS4is
oftenaudible.

DiagnosticEvaluation
TheECGandchestradiographfindingsinpatientswithaorticcoarctationareoutlinedinTable40.
Thefigure3signonchestradiograph(Figure30)iscausedbydilatationoftheaortaaboveand
belowtheareaofcoarctation.Dilatationofintercostalarteriesmayresultintheradiographic
appearanceofribnotching.
TTEisusuallytheinitialdiagnostictestinpatientswithsuspectedaorticcoarctationandallows
identificationofassociatedfeatures,suchasbicuspidaorticvalveandleftventricularhypertrophy.
MRIandCTarerecommendedtoidentifycoarctationseverity,thepresenceofcollateralvessels,and
associatedabnormalitiessuchasaorticaneurysm.Cardiaccatheterizationisreservedforpatientswho
arebeingconsideredforpercutaneousintervention.

Treatment
Severeaorticcoarctationisassociatedwithreducedsurvival.Commoncausesofmorbidityand
mortalityincludesystemichypertension,coronaryarterydisease,stroke,aorticdissection,andheart
failure.
Interventionforcoarctationisrecommendedwhenthecoarctationsystolicpeak(peaktopeak)
pressuregradientis20mmHgorhigher(measuredbyTTEDopplerorcardiaccatheterization)orif
thereisradiologicevidenceofseverecoarctationwithcollateralflow.Surgicalandpercutaneous
interventionoptionsareavailable,andselectiondependsonthelength,location,andseverityofthe
coarctationaswellasthepresenceofassociatedlesions.
Patientswithsevereresidualorunrepairedcoarctation,aorticstenosis,oradilatedaortashouldbe
counseledtoavoidcontactsportsandisometricexercise.

Womenwithrepairedaorticcoarctationandnosignificantresiduagenerallytoleratepregnancywell.
Acomprehensiveprepregnancyevaluationiswarrantedtoevaluateforresidua.Womenwithsevere
unoperatedcoarctationshouldavoidpregnancypriortointervention.Patientswithmildormoderate
residualorunoperatedcoarctationwillgenerallytoleratepregnancywellbutshouldundergoblood
pressuremonitoringduringpregnancyandreceivecardiovascularfollowup.

FollowupAfterAorticCoarctationRepair
RelatedQuestion
Question75
Hypertensionoccursinupto75%ofpatientsfollowingcoarctationrepair.Bloodpressurecontrolis
recommendedtoreducehypertensionrelatedmorbidity.Interventionisoftenrequiredforbicuspid
aorticvalve,aorticaneurysm,aorticdissection,recoarctation,coronaryarterydisease,systolicor
diastolicheartfailure,andintracranialaneurysm.Ageatthetimeofrepairisthemostimportant
predictoroflongtermsurvival.Regularfollowupshouldincludeevaluationwithacongenital
cardiologistaswellasTTEandaorticimaging.

KeyPoints
Upperextremityhypertensionandreducedbloodpressureandpulseamplitudeinthelower
extremitiesarecharacteristicfindingsofaorticcoarctationandcausearadialarterytofemoral
arterypulsedelay.
Interventionforaorticcoarctationisrecommendedwhenthecoarctationsystolicpeak(peakto
peak)pressuregradientis20mmHgorhigherorifthereisradiologicevidenceofsevere
coarctationwithcollateralflow.
Patientswithsevereresidualorunrepairedaorticcoarctation,aorticstenosis,oradilatedaorta
shouldbecounseledtoavoidpregnancy,contactsports,andisometricexercise.

TetralogyofFallot
RelatedQuestion
Question1
TetralogyofFallotisthemostcommoncyanoticcongenitalcardiaclesionandincludesalarge
subaorticVSD,infundibularorvalvularpulmonarystenosis,aorticoverride,andrightventricular
hypertrophy(Figure31).Unoperatedadultpatientsarerarelyencountered.
Approximately15%ofpatientswithtetralogyofFallothavethe22q11.2chromosomemicrodeletion.
Thisincreasesthechanceofcongenitalheartdiseaseinheritancetoapproximately50%compared
with5%inpatientswithoutthemicrodeletion.Genetictestingisrecommendedforallpatientswith
tetralogyofFallotwhoareplanningreproduction.TetralogyofFallotisalsocommoninpersonswith
Downsyndrome.
SurgicalrepairoftetralogyofFallotinvolvespatchclosureoftheVSDandreliefofrightventricular
outflowtractobstructionbypatchenlargement.Thetransannularpatchprocedureinvariablydisrupts
theintegrityofthepulmonaryvalve,causingseverepulmonaryvalveregurgitation,themostcommon
reasonforreoperationinpatientsafterrepairoftetralogyofFallot.Overmanyyears,pulmonary
regurgitationcausesprogressiverightheartenlargement,tricuspidregurgitation,exerciselimitation,
andincreasedriskforarrhythmias.Annualfollowupbyacongenitalcardiologistisrecommendedto

monitorthesesequelaeanddetermineoptimaltimingforintervention.Currentsurgicaltechniques
includeattemptedreliefofpulmonaryvalvestenosiswithpreservationofnativepulmonaryvalve
function.

DiagnosticEvaluationAfterRepairofTetralogyofFallot
TheECGandchestradiographfindingsinpatientswithrepairedtetralogyofFallotareoutlinedin
Table40.Presenceofanarrhythmiashouldpromptasearchforrightheartchamberenlargement
frompulmonaryvalveregurgitation.TheQRSdurationontheECGreflectsthedegreeofright
ventriculardilatation.AQRSdurationof180msecorlongerandnonsustainedventriculartachycardia
areriskfactorsforsuddencardiacdeath.
TTEcanconfirmthepresenceofpulmonaryortricuspidvalveregurgitation,rightventricularoutflow
tractobstruction,residualVSD,aorticregurgitation,andaorticdilatation.MRIisusedtoassessright
ventricularsizeandfunction,whichhelpsdetermineappropriatetimingforpulmonaryvalve
replacement.Diagnosticcatheterizationmayberequiredtoassesshemodynamicsandresidualshunts
anddelineatecoronaryarteryandpulmonaryarteryanatomy.

TreatmentofTetralogyofFallotResidua
PulmonaryvalvereplacementisrecommendedinpatientswithrepairedtetralogyofFallotwhohave
severepulmonaryvalveregurgitationwithsymptoms,decreasedexercisetolerance,morethan
moderaterightheartenlargementordysfunction,orarrhythmias.Longstandingpulmonaryvalve
regurgitationmayresultintricuspidregurgitation,andrepairofthetricuspidvalvemayalsobe
needed.Percutaneouspulmonaryvalvereplacementisnowavailableforselectpatientswithprevious
operativeinterventionfortetralogyofFallot.
PatientswithrepairedtetralogyofFallotandresidualsequelaeshouldbecautionedregarding
participationincontactsportsandheavyisometricexercise.

KeyPoint
PulmonaryvalvereplacementisrecommendedinpatientswithrepairedtetralogyofFallotwho
haveseverepulmonaryvalveregurgitationwithsymptoms,decreasedexercisetolerance,more
thanmoderaterightheartenlargementordysfunction,orarrhythmias.

AdultswithCyanoticCongenitalHeartDisease
GeneralManagement
RelatedQuestions
Question64
Question82
Righttoleftcardiacshunts,suchasunrepairedorpalliatedtetralogyofFallot,truncusarteriosus,
tricuspidatresia,andEisenmengersyndrome,resultinhypoxemia,erythrocytosis,andcyanosis.
Erythrocytemassisincreasedinpatientswithcyanosisasacompensatoryresponsetoimprove
oxygentransport.
Physicalfeaturesincludecentralcyanosisanddigitalclubbing.Patientswithcyanoticcongenitalheart
diseasearepredisposedtoscoliosis,arthropathy,gallstones,pulmonaryhemorrhageorthrombus,

paradoxicalcerebralemboliorcerebralabscess,kidneydysfunction,andhemostaticproblems.
Becauseoftheseproblems,acongenitalcardiacspecialistshouldevaluatepatientswithcyanotic
congenitalheartdiseaseatleastannually.
Patientswithcyanoticorcomplexcongenitalheartdiseaseareatincreasedriskforendocarditis
therefore,antimicrobialprophylaxisisrecommendedpriortocertainnonsterileprocedures.Inpatients
whoarehospitalizedwitharighttoleftintracardiacshunt,filtersonintravenouslinesshouldbeused
topreventparadoxicalairembolism.Earlyambulation,pneumaticcompressiondevices,or
anticoagulationisalsorecommendedforpreventionofvenousstasisandpotentialvenousthrombosis
andparadoxicalembolism.Becauseperioperativecardiaccomplicationsarecommoninthese
patients,electiveoperationsshouldbeperformedatcentersthatcareforsuchpatientswitha
coordinatedmultidisciplinaryteamapproach.Consultationwithacongenitalcardiacspecialistis
recommendedwhenpatientsarehospitalized.
Mostpatientswithcyanosishavecompensatederythrocytosisandstablehemoglobinlevels.
Occasionally,hyperviscositysymptomsoccur,includingheadachesandreducedconcentration.
Phlebotomyisrecommendedforahemoglobinlevelgreaterthan20g/dL(200g/L)andahematocrit
levelgreaterthan65%associatedwithhyperviscositysymptomsintheabsenceofdehydration.
Phlebotomyshouldbeperformednomorethantwotothreetimeseachyear.Dehydrationshouldbe
excludedbeforeconsideringtheprocedure,anditshouldbefollowedbyintravenousfluid
administration.Repeatedphlebotomiesdepleteironstoresandmayresultintheproductionofiron
deficienterythrocytesormicrocytosis,increasingtheriskofstroke.Irondeficiencyinapatientwith
destabilizederythropoiesisistreatedwithoralirontherapyforashorttime.Irontherapyis
discontinuedwhenserumferritinandtransferrinsaturationvaluesarewithinthenormalrange.
Maternalcyanosisimpairsnormalfetalgrowthanddevelopmentandincreasestheriskofintrauterine
growthretardationandmiscarriage.Maternalandfetalmorbidityandmortalityareincreased,related
tothedegreeofcyanosis,ventricularfunction,andpulmonarypressures.Ifpregnancyoccursina
patientwithcyanoticheartdisease,physicalactivityshouldbecurtailedandsupplementaloxygenis
recommended.Preventivemeasurestodecreasetheriskofvenousthrombosisandparadoxical
embolismalsoarerecommended.

EisenmengerSyndrome
EisenmengersyndromeisseverePAHandreversalofacongenitalcardiacshuntcausedbyVSD,
PDA,or,lesscommonly,ASD.Eisenmengersyndromehasbecomeincreasinglyrareowingto
medicalscreening,includingTTEandappropriateintervention.
ConservativemedicalmeasuresarerecommendedinthemanagementofEisenmengersyndrome.
PersonswithEisenmengersyndromeshouldbecautionedregardingirondeficiency,dehydration,
acuteexposuretoexcessheat,andmoderateorseverestrenuousorisometricexercise.Routine
phlebotomybasedonhemoglobinorhematocritlevelisnotrecommendedbecauseirondeficiency
andmicrocytosismayleadtoincreasedsymptomsrather,phlebotomyshouldbeperformedonly
whensymptomsofhyperviscosityoccurandwithsalinevolumereplacement.Inaddition,chronic
highaltitudeexposureshouldbeavoided,asitfurtherreducesoxygensaturation.Womenshouldbe
cautionedtoavoidpregnancybecauseofthehighriskformaternalmortality.
AllpatientswithEisenmengersyndromeshouldbeevaluatedannuallybyacongenitalcardiac
specialist.Noncardiacsurgeryshouldbeperformedatcenterswithexpertiseinthecareofpatients
withcomplexcongenitalcardiacdiseasewheneverpossible.Meticulouscareofintravenouslineswith
filterstoavoidparadoxicalairembolismisimperative.Patientswithprogressivesymptomsmay
benefitfrompulmonaryvasodilatortherapy.
Longdistanceairtravelshouldbeapproachedwithcautionandoccurinpressurizedaircrafts.Select

patientsmaybenefitfromsupplementaloxygenduringprolongedairtravel.

KeyPoint
InpatientswithEisenmengersyndrome,meticulouscareofintravenouslineswithfiltersto
avoidparadoxicalairembolismisimperative.

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Next:DiseasesoftheAorta
Notes
Chapter09
0Notes
AdultCongenitalHeartDisease
Questions
ReferenceRanges