Clinical Manifestations and Diagnosis of Coarctation of The Aorta - UpToDate

6/1/2017
ClinicalmanifestationsanddiagnosisofcoarctationoftheaortaUpToDate
OfficialreprintfromUpToDate
www.uptodate.com2017UpToDate
Clinicalmanifestationsanddiagnosisofcoarctationoftheaorta
Authors: BrojendraNAgarwala,MD,EmileBacha,MD,FACS,QiLingCao,MD,ZiyadMHijazi,MD,MPH,FAAP,FACC,
MSCAI,FAHA
SectionEditors: DavidRFulton,MD,HeidiMConnolly,MD,FASE
DeputyEditors: CarrieArmsby,MD,MPH,SusanBYeon,MD,JD,FACC
Alltopicsareupdatedasnewevidencebecomesavailableandourpeerreviewprocessiscomplete.
Literaturereviewcurrentthrough:Dec2016.|Thistopiclastupdated:Sep21,2016.
INTRODUCTIONCoarctationoftheaortaisanarrowingofthedescendingaorta,whichistypicallylocatedat
theinsertionoftheductusarteriosusjustdistaltotheleftsubclavianartery(figure1).Thisdefectgenerally
resultsinleftventricularpressureoverload.
Theclinicalmanifestationsanddiagnosisofcoarctationoftheaortawillbereviewedhere.Themanagementof
coarctation,includingcorrectivetreatmentoptionsandoutcome,suchastheriskofrecurrentcoarctation,is
discussedseparately.(See"Managementofcoarctationoftheaorta".)
EPIDEMIOLOGYCoarctationoftheaortaaccountsfor4to6percentofallcongenitalheartdefectswitha
reportedprevalenceofapproximately4per10,000livebirths[1,2].Itoccursmorecommonlyinmalesthanin
females(59versus41percent)[3].Mostcasesaresporadic.
PATHOGENESISANDETIOLOGYAlthoughthereareacquiredcauses,theetiologyofcoarctationofthe
aortaisgenerallycongenital.
CongenitalThevastmajorityofcoarctationcasesarecongenital.Althoughtheprecisepathogenesisis
unknown,thetwomaintheoriesforthedevelopmentofcongenitalcoarctationoftheaortaare:
Reducedantegradeintrauterinebloodflowcausingunderdevelopmentofthefetalaorticarch[4]
Migrationorextensionofductaltissueintothewallofthefetalthoracicaorta[57]
Pathologicexaminationofpatientswithcongenitalcoarctationoftheaortarevealsmedialthickeningandintimal
hyperplasiaatthecoarctationsiteformingaposterolateralridgethatencirclestheaorticlumen.Thereisalso
increasingevidenceofavascularwalldefectintheascendingaortaofindividualswithcongenitalcoarctation.
Reportedaorticwallabnormalitiesinneonateswithcoarctationoftheaortainclude[810]:
IncreasedaorticwallstiffnessanddecreasedaorticdistensibilityInastudythatevaluatedtheelastic
propertiesoftheaorticwall,newbornswithcoarctationoftheaorta,bothbeforeandaftersurgicalrepair,
hadincreasedaorticwallstiffnessanddecreasedaorticdistensibilitycomparedwithneonateswithout
coarctation[8].
Increasedcollagenanddecreasedsmoothmusclemassintheprestenoticcomparedwithpoststenotic
segmentsinpatientswithcoarctationnotedbypathologicanalysisfromsurgicalspecimens[9].
Cysticmedialnecrosishasbeennotedbyhistologicexaminationofsurgicalorautopsyspecimens[10].In
somecases,thefindingswerepresentatornearbirth,suggestingthatthesechangesoccurredinutero.
Theunderlyingmechanismforthesearterialwallabnormalitiesisunknown.Geneticdefectsand/orintrauterine
insultssuchasimpairedbloodflowthatalterendothelialdevelopmentmayplayaroleandresultindisturbances
intheelasticpropertiesandnarrowingoftheaorta.Theintrinsicdefectintheaorticwallappearstopredispose
todissectionorruptureintheascendingaortaorintheareaofthecoarctationrepair.
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GeneticfactorsAgeneticpredispositionissuggestedbyreportsofcoarctationoccurringinfamily
members[1113]andbyitsassociationwithTurnersyndrome.
FamilialriskThereisevidenceofanincreasedfamilialriskforcongenitalleftventricularoutflowtract
(LVOT)obstructionmalformationsincludingcoarctationoftheaorta[11,12].Thiswasshowninastudyof
familymembersof124patientswithLVOTobstruction[11].Thirtyofthe351(9percent)relativeswhowere
evaluatedhadasymptomaticLVOTobstructionstructuralheartdefectsthatincludedabnormalitiesinthe
aorticarch(three),leftventricle(five),andaorticvalve(21).Segregationanalysissuggeststhesefindings
maybetheresultofoneormoreminorlociwithraredominantalleles.
TurnersyndromeApproximately5to15percentofgirlswithcoarctationhaveTurnersyndrome(lossof
anXchromosome)[14,15].MostgirlswithTurnersyndromehaveadditionalassociatedclinicalfindings
(eg,congenitallymphedema,webbedneck,growthfailure,renalanomalies(table1andpicture1))
however,ingirlswithmosaicism,otherclinicalfindingsmaybeabsent[14].Upto30percentofpatients
withTurnersyndromehavecoarctation.GenetictestingforTurnersyndrome(ie,karyotypeanalysis)
shouldthereforebeperformedinfemalepatientsdiagnosedwithcoarctationoftheaorta.(See'Turner
syndrome'belowand"ClinicalmanifestationsanddiagnosisofTurnersyndrome".)
AcquiredInadditiontoacongenitaletiology,aorticnarrowingcanbeanacquiredabnormalitydueto
inflammatorydiseasesoftheaorta,suchasTakayasuarteritisor,rarely,severeatherosclerosis[1618].The
midthoracicorabdominalaortaisoftenthesiteofinvolvementinTakayasu'sarteritis[16,17].(See"Clinical
featuresanddiagnosisofTakayasuarteritis".)
ANATOMY
AnatomicalvariantsAlthoughmostpatientshaveadiscretenarrowingofthedescendingaortaatthe
insertionoftheductusarteriosus,thereisaspectrumofaorticnarrowingthatencompassestheusualdiscrete
thoraciclesions,longsegmentaldefects,tubularhypoplasia,and,rarely,coarctationlocatedintheabdominal
aorta.
OthercardiaclesionsCoarctationoftheaortaisusuallyaccompaniedbyanothercardiaclesion[1921].
Therelativefrequencyofassociatedcardiaclesionsdifferssomewhatbasedupontheageofthepopulation
studied.
Inalargepediatriccaseseriesof1892patientsfromBostonChildren'sHospital,approximatelyonethirdof
patientshadothercomplexcardiacdefects(includingsingleventriclevariants[eg,hypoplasticleftheart
syndrome(figure2)],atrioventricular[AV]canaldefect(figure3),orDtranspositionofthegreatarteries[d
TGA](figure4))18percenthadaventricularseptaldefect(VSD)[20].Inthe806patientswhowereclassified
asuncomplicatedcoarctation,othercardiacabnormalitiesincludedbicuspidaorticvalve,atrialseptaldefector
patentforamenovale,mitralregurgitation,aorticstenosis,aorticregurgitation,andmitralstenosisonly17
percentofuncomplicatedcaseshadnoothercardiacproblems.
Inacaseseriesof216infants(<1yearold),48percentofpatientswerediagnosedwithcomplexcoarctation
duetothepresenceofothercardiacdefectsincludingVSD,aorticandsubaorticstenosis,AVcanaldefect,and
dTGA[21].Theremaining113patientswerediagnosedwithsimplecoarctationhowever,PDAoccurredin48
patients(42percent).Asaresult,approximatelyonethirdofaffectedinfantsdidnothaveanotherdetected
cardiacanomaly.Inthisseries,itisunclearwhetheranevaluationtodetectthepresenceofbicuspidaortic
valvewasperformed.
Inacaseseriesof500primarilyadultpatientsevaluatedwithmagneticresonanceimaging,17percenthadno
additionalcardiovascularanomalies[19].Inthiscohort,bicuspidaorticvalves,archhypoplasia,VSD,andPDA
weredetectedin60,14,13,and7percentofpatients,respectively.
PATHOPHYSIOLOGYCoarctationoftheaortadoesnotcauseahemodynamicprobleminutero,astwo
thirdsofthecombinedcardiacoutputflowsthroughthepatentductusarteriosus(PDA)intothedescending
thoracicaorta,bypassingthesiteofconstrictionattheisthmus(figure5).
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Duringtheneonatalperiod,whenthePDAandforamenovale(betweentherightandleftatria)begintoclose,
thecardiacoutputthatmustcrossthenarrowedaorticsegmenttoreachthelowerextremitiessteadily
increases.Withthesechangesthehemodynamicchangesmayrangefrommildsystolichypertensiontosevere
heartfailuredependingupontheseverityofthecoarctationanduponthepresenceofotherassociatedlesions.
Atbirth,theleftventricularafterloadincreasesbecauseofoutflowtractobstructionresultinginincreased
systolicpressureintheleftventricleandproximalaorta.Incasesofsevereobstruction,thesystolicpressure
gradientmayreach50to60mmHgatrest.
Severalcompensatorymechanismsarisetosurmounttheleftventricularoutflowtractobstruction.These
includeleftventricularmyocardialhypertrophy,whichmaintainsnormalsystolicfunctionandejectionfraction,
andthedevelopmentofcollateralbloodflowinvolvingtheintercostal,internalmammary,andscapularvessels,
whichcircumventsthestenoticlesion[20,21].However,inneonateswithseverelesions,heartfailuremay
developbecausethereisinsufficienttimeforthedevelopmentofmyocardialhypertrophyorcollateralblood
flow.
Othercardiaclesionsmayaddfurtherstrainonventricularfunction.Valvarandsubvalvaraorticstenosismay
furtherincreaseleftventricularsystolicpressureandafterload,whereasalargeventricularseptaldefect,PDA,
ormitralregurgitationwillincreaseleftventricularenddiastolicvolumeandpreload,whichsubsequentlyleads
toincreasedleftventricularenddiastolicpressureandtopulmonaryarteryhypertension.Thesepatientswith
complexcoarctationarelikelytodevelopheartfailureandpulmonaryarteryhypertension.
CLINICALMANIFESTATIONS
ManifestationsaccordingtoageTheclinicalmanifestationsofcoarctationvaryindifferentagegroups.
(See"Clinicalmanifestationsanddiagnosisofpatentductusarteriosusinterminfants,children,andadults".)
NeonatesThenewborninfantmayremainasymptomaticifthereisapersistentpatentductusarteriosus
(PDA)orifthecoarctationisnotsevere.Onphysicalexamination,aclinicaldiagnosisismadeifthereisan
absentordelayedfemoralpulse(whencomparedwiththebrachialpulse).Amurmurmaybeassociatedwith
othercardiacdefects,suchasPDA,aorticstenosis,orventricularseptaldefect(VSD).Asystolicclickmaybe
heardduetoabicuspidaorticvalve.Differentialcyanosisisseeninaneonatewithseverecoarctationofthe
aorta,andwithalargePDAwitharighttoleftshuntintothedescendingthoracicaorta.
Aneonatewithseverecoarctationmaypresentwithheartfailureand/orshockwhenthePDAcloses(image1).
Thesepatientsarepale,irritable,diaphoretic,anddyspneicwithabsentfemoralpulsesand,often,
hepatomegaly.Thepulsesmaybepoorinallfourextremities.Intheclinicalsettingofneonatalshock,important
diagnosestoconsiderincludeseverecoarctation,sepsis,andmetabolicabnormalities.(See"Managementof
coarctationoftheaorta",sectionon'Criticalcoarctationininfancy'and"Heartfailureinchildren:Etiology,clinical
manifestations,anddiagnosis",sectionon'Clinicalmanifestations'and"Inbornerrorsofmetabolism:
Epidemiology,pathogenesis,andclinicalfeatures"and"Inbornerrorsofmetabolism:Metabolicemergencies".)
OlderinfantsandchildrenDiagnosisisoftendelayedinolderinfantsandchildrenbecausephysical
findingsaresubtleandbecausemostpatientsareasymptomatic.Withcarefulhistorytaking,somepatientswill
reportchestpain,coldextremities,andclaudicationwithphysicalexertion.However,theseareoftennotedafter
thediagnosisofcoarctationismade.Carefulmeasurementofbloodpressureandpalpationofpulsesinallfour
extremitiessuggesttheclinicaldiagnosiswithlowersystolicbloodpressureinthelowerextremitiescompared
withupperextremitiesandbrachialorradialarterytofemoralarterypulsedelay.Inyoungchildren,coarctation
oftheaortamaypresentwithhypertensionand/ormurmursresultingfromcollateralsorassociatedheart
defects.Heartfailurerarelyoccursbeyondtheneonatalperiod.
AdultsInpreviouslyundiagnosedadults,theclassicpresentingsignishypertension.Despitethe
variabilityinbloodpressureintheupperandlowerextremities,regionalbloodflowisgenerallymaintained
withinnormallimitsbyautoregulatoryvasoconstrictioninthehypertensiveareasandbyvasodilationinthe
hypotensiveareas[22].Mostpatientsareasymptomaticunlessseverehypertensionispresent,whichmaylead
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toheadache,epistaxis,heartfailure,oraorticdissection.Inaddition,claudicationofthelowerextremitiescan
occurduetoreducedflow,especiallywithphysicalexertion.
NaturalhistoryDataonthenaturalhistoryofcoarctationoftheaortaarelargelyderivedfromhospital
postmortemrecordsandfromcaseseriespriortotheavailabilityofoperativerepair(introducedin1945)[23].
Theaveragesurvivalageofindividualswithunoperatedcoarctationwasapproximately35yearsofage,with75
percentmortalityby46yearsofage[24].Commoncomplicationsinunoperatedpatientsorinthoseoperated
onduringlaterchildhoodoradulthoodweresystemichypertension,acceleratedcoronaryarterydisease,stroke,
aorticdissection,andheartfailure.Causesofdeathincludeheartfailure,aorticrupture,aorticdissection,
endocarditis,endarteritis,intracerebralhemorrhage,andmyocardialinfarction[23,24].Patientswithan
associatedbicuspidaorticvalvemayalsodevelopsignificantaorticstenosis,aorticregurgitation,anddilated
ascendingaortafrommyxomatousdegenerationofthemedialwalloftheaorta.(See"Clinicalmanifestations
anddiagnosisofbicuspidaorticvalveinadults".)
PhysicalfindingsThefindingsofreducedsystolicbloodpressureinthelowerextremitiescomparedwith
upperextremitiesandradialarterytofemoralarterypulsedelaysuggestadiagnosisofcoarctationoftheaorta,
whichisusuallyconfirmedbyechocardiographyoralternateimagingmodalities.(See'Diagnosis'below.)
BloodpressureandpulsesTheclassicfindingsofcoarctationoftheaortaaresystolichypertensionin
theupperextremities,diminishedordelayedfemoralpulses(brachialfemoraldelay),andloworunobtainable
arterialbloodpressureinthelowerextremities(figure6)[25].(See"Evaluationofsecondaryhypertension"and
"Definitionanddiagnosisofhypertensioninchildrenandadolescents",sectionon'TechniqueofBP
measurement'.)
Inourpractice,wefollowtherecommendationsoutlinedbythe2008AmericanCollegeofCardiology
(ACC)/AmericanHeartAssociation(AHA)guidelinesforadultswithcongenitalheartdiseasetoscreenfor
coarctationinbothhypertensivechildrenandadults[24]:
Everypatientwithsystemicarterialhypertensionshouldhavetheradial/brachialandfemoralpulses
palpatedsimultaneouslytoassesstimingandamplitudetosearchforthe"brachialfemoraldelay"of
significantaorticcoarctation(figure6).(See"Examinationofthearterialpulse",sectionon'Unequalor
delayedpulses'.)
Upperandlowerextremitybloodpressuremeasurementshouldalsobeperformedclassicallyitis
suggestedthatsupinebilateralarm(brachialartery)bloodpressuresandpronerightorleftsupineleg
(popliteal)bloodpressuresbemeasuredtosearchfordifferentialpressure.However,inclinicalpracticeit
maynotbefeasibletoobtainpronepoplitealbloodpressure,inthiscaseananklebloodpressuremaybe
analternative.
Thesiteoforiginoftheleftsubclavianarteryandtheseverityofthecoarctationdeterminethepatternofpulse
andbloodpressurefindings:
Inmostcases,theoriginoftheleftsubclavianarteryisproximaltothecoarctation,resultinginhypertension
inbotharms(figure1).
Lessoften,theoriginoftheleftsubclavianarteryisjustdistaltothecoarctation,sotheleftbrachialpulseis
diminishedandisequaltothefemoralpulse.Asaresult,inthissetting,comparingthebloodpressurefrom
theleftarmandlegscanbemisleading,asthecoarctationisproximaltotheoriginoftheleftsubclavian
artery.
Inapproximately3to4percentofcases,boththerightandleftsubclavianarteriesoriginatebelowthearea
ofcoarctation,resultinginthebloodpressuresandpulsesthatareequallydecreasedinallfourextremities.
Inmildcoarctationoftheaorta,allthepulsesmaybeeasilypalpable,buttheremaybeadelayinthe
femoralpulsecomparedwiththebrachialpulse.
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Iftheoriginoftherightsubclavianarteryisanomalouslylocateddistaltothecoarctation,comparingblood
pressuremeasurementsbetweentherightarmandlegmaybemisleadingastheywillbediminishedtoa
similardegree.
Themechanicalobstructiontoflowislargelyresponsiblefortheelevationofbloodpressureintheupper
extremities.Inaddition,renalhypoperfusionmayleadtoenhancedreninsecretionandtosubsequentvolume
expansion[26].Volumeexpansionproducesafurtherelevationinbloodpressure,restoringrenalperfusionand
reninsecretiontowardnormal.
Becauseotherconditionscanalsocauseunequalpulsesandbloodpressures(eg,atheroscleroticdisease,
aorticdissection),thesedisordersshouldalsobeconsideredwhenpulseandbloodpressurediscrepanciesare
found.(See'Differentialdiagnosis'belowand"Examinationofthearterialpulse",sectionon'Unequalor
delayedpulses'.)
Whencoarctationoftheaortaisaccompaniedbysubstantialcollaterals,thefemoralpulsesmaybeless
diminished,andthegradient(differentialsystolicbloodpressures)acrossthecoarctationmaybelesssevere
thanexpectedforthedegreeofobstruction[24].
CardiacexaminationCardiacauscultationmaybenormaliftherearenoassociatedcardiac
abnormalities[25].
Thefirstandsecondheartsoundsareusuallynormal.Rarely,pulmonaryhypertensionispresentwhen
thisoccurs,thepulmoniccomponentofthesecondheartsoundisaccentuated(movie1).(See"Approach
totheinfantorchildwithacardiacmurmur",sectionon'Heartsounds'.)
Theremaybeanejectionsystolicclickandasystolicejectionmurmurfromabicuspidaorticvalve(movie
2),whichisheardbestattheapexorleftsternalborder.(See"Approachtotheinfantorchildwitha
cardiacmurmur",sectionon'Othersounds'and"Auscultationofheartsounds",sectionon'Ejection
sounds'and"Auscultationofcardiacmurmursinadults",sectionon'Midsystolicejectionmurmurs'.)
Asystolicmurmurcanextendbeyondthesecondheartsound,attheleftparavertebralinterscapulararea,
duetoflowacrossthenarrowcoarctationarea.
Continuousmurmursmaybecausedbyflowthroughlargecollateralvessels.(See"Auscultationofcardiac
murmursinadults",sectionon'Continuousmurmurs'.)
Systolicmurmursmaybepresentduetocoexistingcardiacdefects(eg,PDA(movie3),VSD(movie4),or
aorticstenosis(movie5)).
Ininfantswithheartfailure,aprominentrightventricularimpulseistypical.Inolderchildrenandadults,theleft
ventricularimpulseispalpableandsustained,andpulsationsmaybepalpableintheintercostalspacesfrom
largecollateralarteries.(See"Examinationoftheprecordialpulsation"and"Approachtotheinfantorchildwith
acardiacmurmur",sectionon'Palpationofthechest'.)
Noncardiacmanifestations
IntracranialaneurysmsAdultpatientswithcoarctationoftheaortaareatincreasedriskforintracranial
aneurysms(IA)[2730].Severalstudiesusingmagneticresonanceangiography(MRA)orcomputed
tomographyangiographyhavedemonstratedIAinapproximately10percentofadultpatients,whichis
substantiallyhigherthanthe2to3percentriskreportedinthegeneralpopulation.TheriskofIAisgreatestin
olderpatientsandthosewithhypertension[29,30].(See"Unrupturedintracranialaneurysms",sectionon
'Epidemiology'.)
Incontrast,theredoesnotappeartobeanincreasedriskofIAamongchildrenwithcoarctationwhoundergo
treatmentearlyinlife.Inastudyof80childrenwithcoarctation,treatedwithsurgicalorendovascular
interventioninearlychildhood(meanageof2.6years),MRAperformedatmeanageof15.7yearsfoundno
evidenceofIAinanyoftheenrolledpatients[31].
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Inadditiontotheriskofintracranialaneurysms,dilatedcollateralarterieswithinthespinalcanalmay
accompanycoarctation.Thesevesselscancompressthespinalcordorcanrupture,causingaclinicalpictureof
subarachnoidhemorrhage[3234].
TurnersyndromeFemalepatientsshouldbeexaminedforthedysmorphicfeaturesofTurnersyndrome
(see"ClinicalmanifestationsanddiagnosisofTurnersyndrome",sectionon'Clinicalmanifestations'):
Neonatesmayhavecongenitallymphedemaofthehandsandfeet,awebbedneck,andalowhairline.
Oldergirlsandwomenaretypicallyshortwithabroad,shieldshapedchestandwithwidelyspacednipples
(picture1).
GenetictestingforTurnersyndrome(ie,karyotypeanalysis)shouldbeperformedinallgirlsdiagnosedwith
coarctationbecauseofthehighrateofassociation(approximately5to15percentoffemalepatients)and
becauseclinicalfindingssuggestiveofTurnersyndromemaybeabsentingirlswithmosaicism[14,15].(See
"ClinicalmanifestationsanddiagnosisofTurnersyndrome",sectionon'Diagnosis'.)
WomenwithTurnersyndromearegenerallyinfertilehowever,pregnancycanbeachievedthroughoocyte
donation.Comprehensivecardiovascularevaluationshouldbeperformedbeforeinitiatingfertilitytherapy
becausethesepatientsareatincreasedriskofdeathfromruptureordissectionoftheaortaduringpregnancy.
(See"ManagementofTurnersyndrome",sectionon'Managementoffertilityandpregnancy'.)
ECGandXrayfindingsMostpatientswillundergoinitialtestingthatincludeselectrocardiography(ECG)
andchestradiography.However,thediagnosisisgenerallyconfirmedbyechocardiography.Insomecases,
particularlyadultsandthosewithcomplexconditions,magneticresonanceimaging(MRI)orcomputerized
tomographyareusedtoconfirmthediagnosis,delineatethelengthofcoarctation,andhelpplanintervention.
(See'Echocardiography'belowand'Magneticresonanceimaging/computedtomography'below.)
ElectrocardiogramECGvarieswithageofthepatientandseverityofthelesion.Eveninneonatesand
younginfantswithaseveredefect,theECGmaybenormalandmaydisplaytheageappropriateright
ventricularhypertrophy.Sometimesbiventricularhypertrophyisseen.Inolderchildrenandadults,theECG
eithermaybenormalormayshowleftventricularhypertrophy,withincreasedvoltageandSTandTwave
changesintheleftprecordialleads.TheECGwilloccasionallyshowrightventricularconductiondelay[24].
(See"Electrocardiographicdiagnosisofleftventricularhypertrophy".)
ChestradiographThechestradiographvarieswithageandseverityofthecoarctation.
Ininfantswithheartfailure,thechestradiographshowsgeneralizedcardiomegalywithincreased
pulmonaryvascularmarkingsduetopulmonaryvenouscongestion(image1).
Inolderchildrenandadults,theheartsizemaybenormal,butthefollowingabnormalitiesareoften
present:
Notchingoftheposterioronethirdofthethirdtoeighthribsduetoerosionbythelargecollateral
arteries.Ribnotchingincreaseswithageandusuallybecomesapparentbetweentheagesof4and12
years(image2).Notchingisnotseenintheanteriorribsbecausetheanteriorintercostalarteriesare
notlocatedincostalgrooves[25].
Indentationoftheaorticwallatthesiteofcoarctationwithpreandpostcoarctationdilatation,which
canproducea"3"sign(image3).Bariumswallowandcardiacangiogram,whicharenolonger
performedroutinely,mayshowareverse"3"or"E"sign(image4).
DIAGNOSIS
PrenataldiagnosisItischallengingtodetectcoarctationbyantenatalultrasoundbecauseonly10percent
ofthefetalcardiacoutputflowsacrossthedefect(figure5)[3537].Inaddition,thepresenceofthepatent
ductuslimitstheabilitytodetectanypressuregradientatthecoarctationsite,andmayalsomaketheanatomic
narrowinglessmarked.Ifthediagnosisismade,itcanbemadeasearlyasat16to18weeksofgestational
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age.Thepresenceofalongsegmentcoarctationorothercardiacfindings(eg,smallleftventricle,smallmitral
annulus,ordilatedrightventricle)improvesdetection.
Inastudyof90infantswithisolatedcriticalcoarctationborninSwedenbetween2003and2012,onlythree
caseswerediagnosedprenatallydespite97percentofpregnantwomeninSwedenhavingasecondtrimester
ultrasound[38].Theultrasoundassessmentincludedafourchamberviewofthefetalheartinallcases
whereasthepracticeofobtainingviewsoftheoutflowtractwassteadilyintroducedduringthestudyperiod,with
65percentofunitsroutinelyapplyingthispracticebytheendofthe2012.
Antenataldetectionbyechocardiographyappearstobeimprovedbyserialstudiesthatusetransverseviewsof
theaorticandductalarches,whichcomparetheratiooftheaorticandductalarcheswithnormativedata[39].
Fetuseswithcoarctationcomparedwiththosewithoutcoarctationweremorelikelytohavealowerratioofthe
distalaorticisthmustoarterialductdiameters.(See"Fetalcardiacabnormalities:Screening,evaluation,and
pregnancymanagement",sectionon'Advancedfetalcardiacevaluation'.)
PostnataldiagnosisTheclinicaldiagnosisofcoarctationoftheaortaisbaseduponthecharacteristic
findingsofsystolichypertensionintheupperextremities,diminishedordelayedfemoralpulses(brachial
femoraldelay),andloworunobtainablearterialbloodpressureinthelowerextremities.Thediagnosisis
confirmedbynoninvasiveimagingmethods,particularlyechocardiography.
EchocardiographyInmostpatients,highqualitytwodimensionalandDopplerechocardiographycan
establishthediagnosisandseverityofcoarctationoftheaorta,includinginneonateswithapatentductus
arteriosus[24,4042].Echocardiographycanalsodetectassociatedcardiacdefects,includingaortichypoplasia,
andcanbeusedforfollowupafterrepair[40,41].
Inthehighparasternalorsuprasternallongaxisview,adiscreteareaofnarrowing(posteriorshelf)withinthe
lumenoftheproximaldescendingthoracicaortaistypicallyvisualized(image5).ColorandpulsedDoppler
echocardiographycanlocalizetheareaofcoarctationbydemonstratingincreasedvelocitiesandturbulence,as
wellasforwarddiastolicflow.
ContinuouswaveDopplercanestimatetheseverityofcoarctationbaseduponthemaximalflowvelocityacross
thenarrowarea,bycalculatingthepressuregradientacrossthecoarctationwithappropriatecorrectionfor
velocityproximaltothesiteofcoarctation.Theseverityofcoarctationcanalsobeestimatedbycalculatingthe
ratioofthemaximalvelocityacrossthecoarctation(inthesuprasternalview)tothepeakvelocityinthe
abdominalaorta(inthesubcostalview)[40].Ofnote,thepresenceofcollateralbloodflowmaydiminishthe
gradientacrossthecoarctationthegradientmaybelessseverethanexpectedforthedegreeofobstruction
[24].Therefore,indicationsforinterventionarenotbasedsolelyupongradient.(See"Managementof
coarctationoftheaorta".)
Identificationofcharacteristicdiastolicrunoffshouldbeincludedintheroutineevaluationforcoarctation
becauselowamplitude,undulating,continuousDopplerflowwithinthedescendingthoracicaortabelowthe
areaofcoarctationandwithintheabdominalaortaprovidesindirectevidenceofcoarctation.Abnormalflowin
collateralvesselsmayalsobedetectedbycolorflowandpulsedwaveDoppler.PulsedwaveDoppler
assessmentoftheabdominalaortainpatientswithcoarctationgenerallydemonstratesreducedanddelayed
systolicamplitudewithpersistentflowduringdiastole.Thisfindingmaybethefirstcluetotheechocardiographic
diagnosisofcoarctation.
Becausemostpatientswithcoarctationwillalsohaveassociatedcardiacanomalies,echocardiographic
evaluationshouldincludedetailedaorticandcardiacchambermeasurements,identificationofaorticvalve
anatomy,andidentificationofotherpotentialassociatedlesionssuchasventricularseptaldefect,subvalvular
aorticstenosis,andmitralvalvedeformity.
Magneticresonanceimaging/computedtomographyMagneticresonance(MR)orcomputed
tomography(CT)angiographyclearlydefinesthelocationandseverityofcoarctationoftheaorta,aswellas
collateralvessels(image6)[40].MRimaging(MRI)alsomayaccuratelyidentifypatientswithsignificant
pressuregradientacrossthecoarctation[43,44].
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Inchildrenwithcoarctation,echocardiographyoftenprovidesadequateanatomicandhemodynamicinformation
forthesurgeonorinterventionalcardiologistwithouttheneedforafurtherimagingstudy.However,MRIorCT
isgenerallyusedasacomplementarydiagnostictoolinadolescentandadultpatients,andprovidesimportant
anatomicdatapriortointervention.Inthe2008AmericanCollegeofCardiologyandAmericanHeart
Association(ACC/AHA)adultcongenitalheartdiseaseguidelines,itisrecommendedthateveryadultpatient
withcoarctation(repairedornot)shouldhaveatleastonecardiovascularMRIorCTforcompleteevaluationof
thethoracicaorta[24].MRIcanalsodetectassociatedcardiacabnormalitiesandcanbeusedforserialfollow
upaftersurgicalrepairorballoonangioplasty[41].IfMRIiscontraindicated,CTimagingmaybeusedto
diagnosecoarctation.MRIisgenerallypreferredtoCTtodecreasethelifetimeradiationburden.
Inadults,cranialMRangiography(orCTangiography)isalsoappropriatetosearchforintracranialaneurysms.
(See'Intracranialaneurysms'above.)
CardiaccatheterizationGiventheaccuracyofnoninvasivemethodsfordiagnosisanddeterminationof
severity[45],cardiaccatheterizationforanisolatedcoarctationoftheaortainchildrenisgenerallyperformedin
conjunctionwithatherapeuticintervention(eg,stentplacement)(image4andimage7andimage8)[45].
Catheterizationmayalsobenecessarywhencoarctationisassociatedwithcomplexcardiacdefects.
Inadults,cardiaccatheterizationisindicatedwhenassociatedcoronaryarterydiseaseissuspected.
DIFFERENTIALDIAGNOSISThedifferentialdiagnosisforcoarctationvariesbasedupontheclinical
presentation:
Inneonatalheartfailure,severecoarctationshouldbeinthedifferentialdiagnosis.Otherpossiblecauses
includesevereobstructiontooutflowoftheleftheart(eg,hypoplasticleftheartsyndromeandsevere
criticalaorticvalvestenosis),sepsis,myocarditis,andperinatalhypoxia.Echocardiographydistinguishes
thesedisordersfromcoarctation.
Inpatientswithunequalpulsesandbloodpressures,thedifferentialdiagnosisincludesobstructive
peripheralarterialdiseases(eg,fromatherosclerosis,orarterialthrombosisfrompriorcatheterization),
priorsurgicalligation(eg,historyofclassicBlalockTaussigshunt),aorticdissection,andsupravalvaraortic
stenosis.Echocardiographydistinguishescoarctationfromthesedisorders.
INFORMATIONFORPATIENTSUpToDateofferstwotypesofpatienteducationmaterials,"TheBasics"and
"BeyondtheBasics."TheBasicspatienteducationpiecesarewritteninplainlanguage,atthe5thto6thgrade
readinglevel,andtheyanswerthefourorfivekeyquestionsapatientmighthaveaboutagivencondition.
Thesearticlesarebestforpatientswhowantageneraloverviewandwhoprefershort,easytoreadmaterials.
BeyondtheBasicspatienteducationpiecesarelonger,moresophisticated,andmoredetailed.Thesearticles
arewrittenatthe10thto12thgradereadinglevelandarebestforpatientswhowantindepthinformationand
arecomfortablewithsomemedicaljargon.
Herearethepatienteducationarticlesthatarerelevanttothistopic.Weencourageyoutoprintoremailthese
topicstoyourpatients.(Youcanalsolocatepatienteducationarticlesonavarietyofsubjectsbysearchingon
"patientinfo"andthekeyword(s)ofinterest.)
Basicslinks(see"Patienteducation:Aorticcoarctationinadults(TheBasics)"and"Patienteducation:
Aorticcoarctationinchildren(TheBasics)")
SUMMARYANDRECOMMENDATIONS
Coarctationoftheaortaisacommonmalformationaccountingfor4to6percentofallcongenitalheart
defectswithaprevalenceof4per10,000livebirths.(See'Epidemiology'above.)
Coarctationoftheaortaisgenerallycongenitalinorigin.Theunderlyingpathogenesisisunknown.There
maybeageneticpredispositionbaseduponfamilialriskofleftventricularoutflowtractobstructive
malformations,includingcoarctation,andupontheassociationofTurnersyndromewithcoarctation.There
arerareacquiredcauses.(See'Pathogenesisandetiology'above.)
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Thereisaspectrumofanatomicvariantsfromtheusualdiscretethoraciclesionstolongsegmental
defects,tubularhypoplasia,and,rarely,coarctationoftheabdominalaorta.Coarctationoftheaortais
usuallyaccompaniedbyanothercardiaclesionincludingbicuspidaorticvalve,ventricularseptaldefect,or
patentductusarteriosus(PDA).(See'Anatomy'above.)
Thepostnatalpresentationvariesdependingupontheageofthepatientandtheseverityofthelesion.
(See'Manifestationsaccordingtoage'above.)
NeonatesmaybeasymptomaticifthereisapersistentPDAorifthecoarctationisnotsevere.
However,patientswithseveredefectsmaypresentwithheartfailureand/orshockwhenthePDA
closes(image1).
Olderinfantsandchildrenareoftenasymptomaticandpresentwithhypertension,murmurscausedby
collateralbloodfloworassociatedheartdefects,orsymptomsofchestpainorclaudication.
Hypertensionisthetypicalpresentingsigninadults.Claudicationandheadachesmayalsobenotedin
adultswithunrepairedcoarctation.
Theclassicalphysicalfindingsaresystolicbloodpressurewhichislowerinthelowerextremitiescompared
withtheupperextremitiesand/orradial(orbrachial)arterytofemoralarterypulsedelay.(See'Physical
findings'above.)
Everyindividualwithsystemicarterialhypertensionshouldbeassessedforthepresenceofcoarctationby
simultaneouspalpationofthebrachialorradialandfemoralpulsestodetectthepresenceofa"radial
femoraldelay,"andbybilateralarmandlegbloodpressurestodetectalowerextremitybloodpressure
reduction.(See'Bloodpressureandpulses'aboveand"Examinationofthearterialpulse",sectionon
'Unequalordelayedpulses'.)
Adultpatientswithcoarctationoftheaortaareatincreasedriskforintracranialaneurysms.Theriskofis
greatestinolderpatientsandthosewithhypertension.(See'Intracranialaneurysms'aboveand
"Unrupturedintracranialaneurysms".)
GenetictestingforTurnersyndrome(ie,karyotypeanalysis)shouldbeperformedinallgirlsdiagnosedwith
coarctationbecauseofthehighrateofassociation(approximately5to15percentoffemalepatients)and
becauseclinicalfindingssuggestiveofTurnersyndromemaybeabsentingirlswithmosaicism.(See
'Turnersyndrome'aboveand"ClinicalmanifestationsanddiagnosisofTurnersyndrome",sectionon
'Diagnosis'.)
Chestradiographicfindingsvarywithageandseverityofthecoarctation.Ininfantswithheartfailure,the
chestradiographusuallyshowsgeneralizedcardiomegalywithincreasedpulmonaryvascularmarkingsdue
topulmonaryvenouscongestion(image1).Inolderchildrenandadults,theheartsizemayremainnormal,
butotherfindingsincluderibnotchingandthe"3"sign(indentationoftheaorticwallatthesiteof
coarctationwithpreandpostcoarctationdilatation)(image2andimage3).(See'Chestradiograph'
above.)
Theprenataldiagnosisofcoarctationischallengingasitisdifficulttodetectaorticnarrowingbecauseonly
10percentofthefetalcardiacoutputflowsthroughthethoracicaorta.(See'Prenataldiagnosis'above.)
ThediagnosisofcoarctationisgenerallyconfirmedbytwodimensionalandDopplertransthoracic
echocardiography.Inadolescents,adults,andsomepediatriccases,magneticresonanceimaging(MRI)or
computerizedtomography(CT)(image6)isusedasacomplementarydiagnostictool.MRIorCTdefine
thelocationandlengthofobstructionandidentifycollateralvesselsandotherassociatedlesionssuchas
aorticdilatation.(See'Postnataldiagnosis'aboveand"Managementofcoarctationoftheaorta",sectionon
'Monitoring'.)
UseofUpToDateissubjecttotheSubscriptionandLicenseAgreement.
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Atlanta,19982005.JPediatr2008153:807.
2.HoffmanJI,KaplanS.Theincidenceofcongenitalheartdisease.JAmCollCardiol200239:1890.
3.ReportoftheNewEnglandRegionalInfantCardiacProgram.Pediatrics198065:375.
4.RudolphAM,HeymannMA,SpitznasU.Hemodynamicconsiderationsinthedevelopmentofnarrowingof
theaorta.AmJCardiol197230:514.
5.WielengaG,DankmeijerJ.Coarctationoftheaorta.JPatholBacteriol196895:265.
6.RussellGA,BerryPJ,WattersonK,etal.Patternsofductaltissueincoarctationoftheaortainthefirst
threemonthsoflife.JThoracCardiovascSurg1991102:596.
7.HoSY,AndersonRH.Coarctation,tubularhypoplasia,andtheductusarteriosus.Histologicalstudyof35
specimens.BrHeartJ197941:268.
8.VogtM,KhnA,BaumgartnerD,etal.Impairedelasticpropertiesoftheascendingaortainnewborns
beforeandearlyaftersuccessfulcoarctationrepair:proofofasystemicvasculardiseaseofthe
prestenoticarteries?Circulation2005111:3269.
9.NiwaK,PerloffJK,BhutaSM,etal.Structuralabnormalitiesofgreatarterialwallsincongenitalheart
disease:lightandelectronmicroscopicanalyses.Circulation2001103:393.
10.IsnerJM,DonaldsonRF,FultonD,etal.Cysticmedialnecrosisincoarctationoftheaorta:apotential
factorcontributingtoadverseconsequencesobservedafterpercutaneousballoonangioplastyof
coarctationsites.Circulation198775:689.
11.McBrideKL,PignatelliR,LewinM,etal.Inheritanceanalysisofcongenitalleftventricularoutflowtract
obstructionmalformations:Segregation,multiplexrelativerisk,andheritability.AmJMedGenetA2005
134A:180.
12.WesselsMW,BergerRM,FrohnMulderIM,etal.Autosomaldominantinheritanceofleftventricular
outflowtractobstruction.AmJMedGenetA2005134A:171.
13.SehestedJ.Coarctationoftheaortainmonozygotictwins.BrHeartJ198247:619.
14.EckhauserA,SouthST,MeyersL,etal.TurnerSyndromeinGirlsPresentingwithCoarctationofthe
Aorta.JPediatr2015167:1062.
15.WongSC,BurgessT,CheungM,ZacharinM.Theprevalenceofturnersyndromeingirlspresentingwith
coarctationoftheaorta.JPediatr2014164:259.
16.D'SouzaSJ,TsaiWS,SilverMM,etal.Diagnosisandmanagementofstenoticaortoarteriopathyin
childhood.JPediatr1998132:1016.
17.PagniS,DenataleRW,BoltaxRS.Takayasu'sarteritis:themiddleaorticsyndrome.AmSurg1996
62:409.
18.SheikhzadehA,GiannitsisE,GehlHB,etal.Acquiredthromboatheromatouscoarctationoftheaorta:
acquiredcoarctationoftheaorta.IntJCardiol199969:87.
19.TeoLL,CannellT,BabuNarayanSV,etal.Prevalenceofassociatedcardiovascularabnormalitiesin500
patientswithaorticcoarctationreferredforcardiovascularmagneticresonanceimagingtoatertiary
center.PediatrCardiol201132:1120.
20.KeaneJF,FlyerDC.Coarctationoftheaorta.In:Nadas'PediatricCardiology,2nded,KeaneJF,LockJE,
FylerDC(Eds),SaundersElsevier,Philadelphia2006.p.627.
21.BeekmanRHIII.CoarctationoftheAorta.In:MossandAdams'HeartDiseaseinInfants,Children,and
Adolescents,6thed,AllenHD,DriscollDJ,ShaddyRE,FeltesTF(Eds),WKLippincottWillamsand
Wilkins,Philadelphia2008.Vol2,p.987.
22.TobianLJr.Aviewpointconcerningtheenigmaofhypertension.AmJMed197252:595.
https://www.uptodate.com/contents/clinicalmanifestationsanddiagnosisofcoarctationoftheaorta/print?source=search_result&search=coarctation%
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23.JenkinsNP,WardC.Coarctationoftheaorta:naturalhistoryandoutcomeaftersurgicaltreatment.QJM
199992:365.
24.WarnesCA,WilliamsRG,BashoreTM,etal.ACC/AHA2008GuidelinesfortheManagementofAdults
withCongenitalHeartDisease:areportoftheAmericanCollegeofCardiology/AmericanHeart
AssociationTaskForceonPracticeGuidelines(writingcommitteetodevelopguidelinesonthe
managementofadultswithcongenitalheartdisease).Circulation2008118:e714.
25.BricknerME,HillisLD,LangeRA.Congenitalheartdiseaseinadults.Firstoftwoparts.NEnglJMed
2000342:256.
26.AlpertBS,BainHH,BalfeJW,etal.Roleofthereninangiotensinaldosteronesysteminhypertensive
childrenwithcoarctationoftheaorta.AmJCardiol197943:828.
27.HODESHL,STEINFELDL,BLUMENTHALS.Congenitalcerebralaneurysmsandcoarctationofthe
aorta.ArchPediatr195976:28.
28.ConnollyHM,HustonJ3rd,BrownRDJr,etal.Intracranialaneurysmsinpatientswithcoarctationofthe
aorta:aprospectivemagneticresonanceangiographicstudyof100patients.MayoClinProc2003
78:1491.
29.CurtisSL,BradleyM,WildeP,etal.Resultsofscreeningforintracranialaneurysmsinpatientswith
coarctationoftheaorta.AJNRAmJNeuroradiol201233:1182.
30.CookSC,HickeyJ,MaulTM,etal.Assessmentofthecerebralcirculationinadultswithcoarctationofthe
aorta.CongenitHeartDis20138:289.
31.DontiA,SpinardiL,BrighentiM,etal.FrequencyofIntracranialAneurysmsDeterminedbyMagnetic
ResonanceAngiographyinChildren(MeanAge16)HavingOperativeorEndovascularTreatmentof
CoarctationoftheAorta(MeanAge3).AmJCardiol2015116:630.
32.BannaMM,RosePG,PearceGW.Coarctationoftheaortaasacauseofspinalsubarachnoid
hemorrhage.Casereport.JNeurosurg197339:761.
33.WatsonAB.Spinalsubarachnoidhaemorrhageinpatientwithcoarctationofaorta.BrMedJ19674:278.
34.ChadduckWM,CatheySL,GearhartAT,etal.Paraplegiacausedbycoarctationoftheaortaand
hydrocephalus.ChildsNervSyst19862:162.
35.HeadCE,JowettVC,SharlandGK,SimpsonJM.Timingofpresentationandpostnataloutcomeofinfants
suspectedofhavingcoarctationoftheaortaduringfetallife.Heart200591:1070.
36.WrenC,ReinhardtZ,KhawajaK.Twentyyeartrendsindiagnosisoflifethreateningneonatal
cardiovascularmalformations.ArchDisChildFetalNeonatalEd200893:F33.
37.BrownKL,RidoutDA,HoskoteA,etal.Delayeddiagnosisofcongenitalheartdiseaseworsens
preoperativeconditionandoutcomeofsurgeryinneonates.Heart200692:1298.
38.LanneringK,BartosM,MellanderM.LateDiagnosisofCoarctationDespitePrenatalUltrasoundand
PostnatalPulseOximetry.Pediatrics2015136:e406.
39.MatsuiH,MellanderM,RoughtonM,etal.Morphologicalandphysiologicalpredictorsoffetalaortic
coarctation.Circulation2008118:1793.
40.TeienDE,WendelH,BjrnebrinkJ,EkelundL.EvaluationofanatomicalobstructionbyDoppler
echocardiographyandmagneticresonanceimaginginpatientswithcoarctationoftheaorta.BrHeartJ
199369:352.
41.GreenbergSB,BalsaraRK,FaerberEN.Coarctationoftheaorta:diagnosticimagingaftercorrective
surgery.JThoracImaging199510:36.
42.LuCW,WangJK,ChangCI,etal.Noninvasivediagnosisofaorticcoarctationinneonateswithpatent
ductusarteriosus.JPediatr2006148:217.
43.NielsenJC,PowellAJ,GauvreauK,etal.Magneticresonanceimagingpredictorsofcoarctationseverity.
Circulation2005111:622.
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44.MuzzarelliS,MeadowsAK,OrdovasKG,etal.Predictionofhemodynamicseverityofcoarctationby
magneticresonanceimaging.AmJCardiol2011108:1335.
45.MarekJ,SkovrnekJ,HucnB,etal.Sevenyearexperienceofnoninvasivepreoperativediagnosticsin
childrenwithcongenitalheartdefects:comprehensiveanalysisof2,788consecutivepatients.Cardiology
199586:488.
Topic5760Version28.0
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GRAPHICS
Criticalcoarctationoftheaorta
Coarctationoftheaortaisanarrowingofthedescendingaorta.Thenarrowing
typicallyisattheisthmus,thesegmentjustdistaltotheleftsubclavianartery.In
criticalcoarctation,thenarrowingissevereandbloodflowtothedescending
aortaisdependentonapatentductusarteriosus(PDA).WhenthePDAcloses,
neonateswithcriticalcoarctationdevelopheartfailureand/orshock.Onphysical
exam,femoralpulsesareweakorabsent.
Graphic103747Version3.0
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ApproximateincidenceofmajorclinicalabnormalitiesinTurnersyndrome
Frequency
(percent)
Abnormalities
Skeletalgrowthdisturbances
Shortstature
95to100
Growthfailure
90to95
Increaseduppertolow
segmentratio
>90
Defectivedental
development,
malocclusion
upto75
Characteristicfacieswith
micrognathia
Frequency
(percent)
Abnormalities
Otherfeatures
Cardiacmalformations
upto50
Aorticvalveabnormalities(primarily
bicuspidaorticvalve)
15to30
Elongatedtransverseaorticarch
40to50
Coarctationoftheaorta
upto17
Ventricularseptaldefects
1to4
60
Atrialseptaldefects
1to2
8to13
Cubitusvalgus
50
Systemicvenousabnormalities(suchas
persistentleftsuperiorvenacava)
Kyphosis
50
Pulmonaryvenousabnormalities
13to15
Shortneck
40
Renalandrenovascularanomalies
>30
Genuvalgum
35
Hypertension
30
Higharchedpalate
35
Ocularabnormalities
Widelyspacednipples,
broadchest
30to35
Shortmetacarpals
Myopiaorhyperopia
20to50
Strabismus
15to30
35
Amblyopia
>15
Scoliosis
10to20
Ptosis
10to30
Madelungdeformity
Lymphaticobstruction
Lowposteriorhairline
40
Edemaofhands/feet
20to30
Characteristic
dermatoglyphics
30
Webbedneck
25
Earlobeanomalies(eg,
rotated)
15to20
Naildysplasia
10
Germcellchromosomaldefects
Infertility
95
Ovarianfailure
90
Gonadaldysgenesis
85to90
Gonadoblastoma
Earsandhearing
Recurrentotitismedia
50to70
Sensorineuralhearingloss
50(by
adulthood)
Conductivehearingloss
10to40
Cholesteatoma
Skin
Multiplepigmentednevi
25
Vitiligo
Alopecia
Autoimmune
Thyroiditis
15to30
(rateincreaseswithage)
Celiacdisease
Inflammatoryboweldisease
References:
1.GravholtCH,JuulS,NaeraaRW,HansenJ.MorbidityinTurnersyndrome.JClinEpidemiol199851:147.
2.SylvnL,HagenfeldtK,BrndumNielsenK,vonSchoultzB.MiddleagedwomenwithTurner'ssyndrome.Medical
status,hormonaltreatmentandsociallife.ActaEndocrinol(Copenh)1991125:359.
3.LippeB.Turnersyndrome.EndocrinolMetabClinNorthAm199120:121.
4.GtzscheCO,KragOlsenB,NielsenJ,etal.Prevalenceofcardiovascularmalformationsandassociationwith
karyotypesinTurner'ssyndrome.ArchDisChild199471:433.
5.KimHK,GottliebsonW,HorK,etal.CardiovascularanomaliesinTurnersyndrome:spectrum,prevalence,and
cardiacMRIfindingsinapediatricandyoungadultpopulation.AJRAmJRoentgenol2011196:454.
6.MortensenKH,AndersenNH,GravholtCH.CardiovascularphenotypeinTurnersyndromeintegratingcardiology,
genetics,andendocrinology.EndocrRev201233:677.
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ClinicalfeaturesofTurnersyndrome
Elevenyearoldwithclassicalappearanceof45,XTurnersyndrome,including
shortstature,lackofbreastdevelopment,andshieldchestwithwidelyspaced
nipples.Additionalfeaturesmayincludewebbedneck,cubitusvalgus,and
shortenedfourthmetatarsals.
Reproducedwithpermissionfrom:RebarRW,PaupooAAV.Puberty.In:Berekand
Novak'sGynecology,Berek,JS(Ed),Philadelphia:LippincottWilliams&Wilkins,
2012.Copyright2012LippincottWilliams&Wilkins.www.lww.com.
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Spectrumofhypoplasticleftheartsyndrome
Thespectrumofhypoplasticleftheartsyndrome(HLHS).
(PanelA)AorticatresiawithmitralatresiaisthemostextremeformofHLHS.Theleftventricle(LV)is
diminutive.Theascendingaortaandarchareextremelyhypoplastic,andflowisretrograde.Systemic
outputisductaldependent.
(PanelB)Aorticatresiawithapatentmitralvalve.Asinaorticatresia,theascendingaortaandarchare
hypoplasticandallsystemicoutputisductaldependent.Thereisinflowwithoutoutflow.Asaresult,the
leftventricleishypertensivewithhypertrophyandendocardialfibroelastosis.Theleftventricularmass
canbegreaterthannormalandresultindistortionoftheinflowoftherightventricle,resultingin
tricuspidvalveinsufficiency.
(PanelC)Aorticvalvestenosiswithapatentmitralvalve.Theleftventricleishypoplastic,but
antegradeflowthroughtheaorticvalvepersists.Thedegreeofaorticandarchhypoplasiaislessthan
thatobservedwithaorticatresia.ThisendofthespectrumofHLHSblendssmoothlyintocriticalaortic
stenosis,anddecisionmakingconcerningsuitabilityfortwoventriclerepaircanbechallenging.
Reproducedwithpermissionfrom:TweddellJ,HoffmanG,GhanayemN,etal.Hypoplasticleftheart
syndrome.In:MossandAdams'HeartDiseaseinInfants,ChildrenandAdolescents:IncludingtheFetusand
YoungAdult,7thed,AllenH,DriscollD,ShaddyR,etal(Eds),LippincottWilliams&Wilkins,Philadelphia
2008.Copyright2008LippincottWilliams&Wilkins.www.lww.com.
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Differentformsofatrioventricularcanaldefects
Anatomicandphysiologicsimilaritiesbetweenthedifferentformsofatrioventricularseptaldefect
(AVSD)areillustrated.CompleteAVSDshaveoneannuluswithlargeinteratrialand
interventricularcommunications.Intermediatedefects(oneannulus,twoorifices)areasubtype
ofcompleteAVSD.CompleteAVSDshavephysiologyofventricularseptaldefects(VSD)and
atrialseptaldefects(ASD).Incontrast,partialAVSDshavephysiologyofASDs.Transitional
defectsareaformofcompleteAVSDinwhichasmallinsignificantinletVSDispresent,andasa
resultthephysiologyismoresimilartothatofapartialdefect.Partialdefectsandthe
intermediateformofcompleteAVSDshareasimilaranatomicfeature:atongueoftissuedivides
thecommonatrioventericularvalveintodistinctrightandleftorifices.
LA:leftatriumLPV:leftpulmonaryveinLV:leftventricleRA:rightatriumRPV:rightpulmonary
veinRV:rightventricle.
Reproducedwithpermissionfrom:CettaF,MinichLL,EdwardsWD,etal.Atrioventricularseptal
defects.In:MossandAdams'HeartDiseaseinInfants,Children,andAdolescentsIncludingtheFetus
andYoungAdult,7thed,AllenHD,ShaddyRE,DriscollDJ,FeltesTF(Eds),LippincottWilliams&
Wilkins,Philadelphia2007.Copyright2007LippincottWilliams&Wilkins.www.lww.com.
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Diagramofthedextrotypeoftranspositionofthegreat
arteries
Diagramofthedextrotypeoftranspositionofthegreatarteriesshowingthe
abnormalpositionoftheaorta(Ao)andthepulmonaryartery(PA).
Ao:aortaLA:leftatriumLV:leftventriclePA:pulmonaryarteryRA:rightatrium
RV:rightventricle.
Reproducedwithpermissionfrom:MultimediaLibraryofCongenitalHeartDisease,
Children'sHospital,Boston,editorRobertGeggelMD,
www.childrenshospital.org/mml/cvp.
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Fetalcirculation
Thedegreeofoxygensaturationisindicatedbyshading,asexplainedinthefigurekey.
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Chestradiographyofaninfantwithcriticalcoarctationoftheaortaand
heartfailure
Thisisachestradiographofanewborninfantwhopresentedwithrespiratorydistress.ImageAisa
frontalradiographofthechestdemonstratingpulmonaryedemacausedbycriticalcoarctationofthe
descendingaorta,whichwasdiagnosedbyechocardiography.ImageBisthelateralchestradiographfrom
thesamepatient.
CourtesyofLachlanSmith,MD.
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Brachialandfemoralarteryrecordingsfromanadult
withcoarctationofaorta
Tracingsofthepulsepressureofthebrachialandfemoralarteriesdemonstrate
thedelayinthepeaksystolicpressureofthefemoralarterycomparedwiththe
peakpulsepressureinthebrachialartery.
CrawfordMH.Inspectionandpalpationofvenousandarterialpulses.In:
ExaminationoftheHeart.Part2.AmericanHeartAssociationNewYork1990.
Reprintedwithpermission.Copyright1990AmericanHeartAssociation,Inc.
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Ribnotchingcoarctationoftheaorta
Thischestradiographofanadultpatientwithcoarctationoftheaortashowsribnotching.ImageAshows
ribnotchingintheposteriorandinferioraspectsoftherightsidedribsstartingatthethirdribandismost
pronouncedinribs7and8(arrow).ImageBisamagnifiedviewofthenotchingofribs7and8.
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Chestradiographofapatientwithcoarctationoftheaorta
Posterioranterior(PA)chestradiographofapatientwithcoarctationoftheaorta(A)
showssofttissuefullnessintheregionoftheectaticsubclavianartery(arrow)andwith
subtleribnotchingbestappreciatedinthefourthrightrib(arrowhead).Thelateral
examination(B)showsthecharacteristic3signconsistingoftheenlargedanddistorted
aorticknobandsubclavianarteryformingtheupperportionofthe3,thewaistatthesite
ofthecoarctation(arrow),andthelowerportionformedbythepoststenoticdilatationof
theproximaldescendingaorta.
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Aortogramcoarctationshowingaorta"3"sign
Theaortogramshowsthe"3"signconsistingoftheenlargedanddistorted
aorticknobandsubclavianarteryformingtheupperportionofthe3,thewaist
atthesiteofthecoarctation(arrow),andthelowerportionformedbythepost
stenoticdilatationoftheproximaldescendingaorta.
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Transthoracicechocardiographic(TTE)imageswithDopplerassessmentinapatient
withcoarctationoftheaorta
(A)TwodimensionalsuprasternalTTEimagedemonstratingseverenarrowinginthedescendingthoracicaorta(arrow).
(B)ColorflowDopplerdemonstratingmarkedflowaccelerationatthenarrowedsite.
(C)ParasternalshortaxisTTEimageshowingabicuspidaorticvalve(doubleasterisk),whichfrequentlyisseenin
patientswithcoarctation.
(D)PulsedwaveDoppleroftheabdominalaortademonstratingalowantegradesystolicvelocitywithpersistentflowin
diastole(arrow).
(E)ContinuouswaveDopplerdemonstratingsevereobstructionatthesiteofcoarctationwithapeaksystolicgradientof
65mmHgandameangradientof33mmHg.Notepersistentforwardflowduringdiastole,consistentwithpersistent
pressuregradientacrosstheobstruction.
AAO:ascendingaortaDAO:descendingaortaTTE:transthoracicechocardiographic.
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Computedtomographicthreedimensionalreconstructionofcoarctation
oftheaorta
Computedtomographicthreedimensionalvolumerenderedreconstructionofthethoracicaorta
demonstrating:
(A)Severeaorticcoarctation(arrow)ina22yearoldpatientwithhypertensionandanewdiagnosis
ofaorticcoarctation.
(B)Demonstratesextensivecollateralvesselsinthesamepatient.
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Angiogramsofcoarctationsoftheaorta
(A)AngiogramofatwomonthfemaleinfantwithTurnersyndrome.Arrowshowingdiscreteareaof
narrowing.Arrowheadisshowinghypoplasticaorticarch.Dashedarrowisshowingaverysmallpatent
ductusarteriosus(PDA).
(B)Transverseaorticarchangiogramimageina31yearoldmalepatientwhopresentedwith
hypertensionandwasfoundtohaveseverecoarctation.Theangiogramrevealspresenceofsevere
narrowingdistaltotheleftsubclavianartery(arrow).
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Preandpoststentaortogramofapatientwithcoarctationoftheaorta
(A)Aortogramdemonstratingcoarctationoftheaortapriortostentplacementina16yearold
patient.Thearrowindicatesthediscretenarrowingoftheaorta.
(B)Thearrowshowsthattheareaofnarrowinghasdisappearedafterstentplacement.
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ContributorDisclosures
BrojendraNAgarwala,MD Nothingtodisclose EmileBacha,MD,FACS Nothingtodisclose QiLingCao,
MD Nothingtodisclose ZiyadMHijazi,MD,MPH,FAAP,FACC,MSCAI,FAHA Consultant/AdvisoryBoards:
NuMEDInc[Coarctationoftheaorta(Angioplastyballoons)]. DavidRFulton,MD Nothingtodisclose HeidiM
Connolly,MD,FASE Nothingtodisclose CarrieArmsby,MD,MPH Nothingtodisclose SusanBYeon,MD,
JD,FACC Nothingtodisclose
Contributordisclosuresarereviewedforconflictsofinterestbytheeditorialgroup.Whenfound,theseare
addressedbyvettingthroughamultilevelreviewprocess,andthroughrequirementsforreferencestobe
providedtosupportthecontent.Appropriatelyreferencedcontentisrequiredofallauthorsandmustconformto
UpToDatestandardsofevidence.
Conflictofinterestpolicy
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Clinical Manifestations and Diagnosis of Coarctation of The Aorta - UpToDate

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