Download Introduc-on to Adult Congenital Heart Disease

Introduc)on to Adult
Congenital Heart Disease
DavidLaughrun,M.D.,F.A.C.C.
Disclosure of Relevant Financial Rela)onships
–  Employee—MercyDesMoines
Adult Congenital Heart Disease
– Defini&on
–  Examples
–  Demographics
–  Evolu>onofSpecialtyCare
–  UniqueMedicalandNon-medicalConcerns
Adult Congenital Heart Disease
– Structuralheartabnormalitypresentatbirth.
– RangefromSimpletoModeratelyComplextoHighly
Complex.
– RepairedorUnrepaired.
– Cyano>corNon-cyano>c.
Down Syndrome
–  Trisomy21.
–  AVCanalDefect,VSD,ASD,TOF,ormul>pledefects.
Turner Syndrome
–  AbsentorabnormalXchromosome(~50%are45XO).
–  Coarcta>on,PAPVR.
Noonan Syndrome
–  SimilartoTurnerSyndromebutwithnormalcomplementof
chromosomes.MutatedPTPN11orKRASgene.Autosomal
dominant.
–  PS,PAS,ASD.
Holt-Oram (“Heart-Hand”) Syndrome
–  Muta>onofTBX5gene;autosomaldominant.
–  Abnormalradial,wrist,thenarandthumbbones.
–  ASD,VSD(s),AVBlock,atrialfibrilla>on.
Adult Congenital Heart Disease: E)ology
– Gene>c(complexpa^erns;approximately25%).
– Environmentaltoxins(ETOH,maternalRubella,drugs).
– Mul>factorial(egDM).
– MajorityofisolatedcasesofCHDhaveno
apparentcause.
Adult Congenital Heart Disease
–  Defini>on
– Examples
–  Demographics
–  Evolu>onofSpecialtyCare
–  UniqueMedicalandNon-medicalConcerns
Normal Heart
ACHD-Simple:
Secundum Atrial Septal Defect
Secundum ASD: Percutaneous or Surgical
Closure if RA and RV Enlargement Secundum ASD:
Percutaneous Closure
Repaired Secundum ASD Followup – PercutaneousClosure:3monthsto1yearthen“periodically”
thereacer.Watchfor:migra>on,erosion,thrombosis.
– SurgicalClosure:Indefinitefollowupifadultat>meofsurgery,
pulmonaryHTN,arrhythmias,RVdysfunc>onorassociatedlesions.
ACHD-Moderately Complex:
Repaired Tetralogy of Fallot
TOF Repair of RVOT and PA Obstruc)on
Pulmonary Regurgita)on s/p TOF Repair
Repaired TOF Pa)ent: Long Term Followup
–  Re-opera>onforpulmonicregurgita>on,residualRVOTobstruc>on
oraor>cregurgita>on?
–  Heritablecause(eg:22q11dele>on)?
–  Arrhythmias?
–  IncreasedriskofSCD.
–  Favorablelongtermprognosis(86%30yearspostop)but:
– RepairedTOFisnotcuredTOF.
ACHD-Highly Complex:
VSD with Eisenmenger Physiology
–  VSDcorrectedbeforeEisenmengerphysiologydevelopshasan
excellentlongtermoutlook.
VSD with Eisenmenger Physiology
VSD with Eisenmenger Physiology
–  Ini>alLtoRshuntleadstomedialthickeningofpulmonary
vasculature.
–  Resultantincreaseinpulmonaryvascularresistanceul>matelyleads
toRtoLshunt.
–  O2-unresponsivehypoxemiaresults.
VSD with Eisenmenger Physiology
–  WhenPVRexceeds70%ofSVRduetoirreversiblechangesinthe
pulmonaryvasculature,theriskofsurgicalrepairoftheVSDbecomes
prohibi>veduetothelikelihoodofpostopera>vedeathfromRV
failure.
Eisenmenger Syndrome
VSD with Eisenmenger Physiology
–  Progressivedyspneaonexer>on.
–  Secondaryerythrocytosisandirondeficiencycanleadto
hyperviscosityproblems(cerebrovascular,renal).
–  Rightheartfailure.
–  Paradoxicalembolism.
–  Angina(RVischemiaorcoronaryarterycompressionbydilatedPA).
–  Deathfrom:SCD,hemoptysis,HF,pregnancy,non-cardiacsurgery,
brainabscess,infec>ousendocardi>s,stroke.
VSD with Eisenmenger Syndrome:
Mangement
–  Absoluteavoidanceofpregnancy.
–  Avoid:airbubblesinIV,dehydra>on,moderateorgreaterexercise
(especiallyisometric),excessiveheat,highal>tude.
–  Maintainadequateironstores.
–  Uncommonlyusetherapeu>cphlebotomy(Hb>20withsymptoms).
–  MedicaltreatmentofPAH.
–  Considerheart-lungtransplantorVSDrepair-lungtransplant.
VSD with Eisenmenger: Transplant Considera)ons
–  10yearsurvivals/pHLTapproximately20%
–  WithoutHLT:
ACHD-Highly Complex: Dextrocardia, DORV, VSD,
L-TGA, Pulmonary Atresia
Modified Blalock-Taussig Shunt: Subclavian
Artery to Pulmonary Artery Glenn Shunt: Superior Vena Cava to
Pulmonary Artery
ACHD-Highly Complex: Dextrocardia, DORV,
VSD, L-TGA, Pulmonary Atresia –  Infant:LGlennShunt
–  Infant:RBlalock-TaussigShunt
–  11y.o.:Rsidedunifocaliza>onsurgerywithbovinepericardialgrac.
–  12y.o.:PatchclosureofmorphologicRAVvalve+excisionof
interatrialseptum.
–  23y.o.:Successfulpregnancy.
–  27y.o.:Pulmonaryarterystent+coilingofGlenn“pop-off”
collaterals.
–  30y.o.:CoilingofnewGlenncollaterals.
AlthoughVivienThomas(MosDef),ablackmaninthe1930s,isoriginallyhiredasajanitor,heproveshimselfadeptatassis>ng
the''BlueBabydoctor,''AlfredBlalock(AlanRickman),withhismedicalresearch.WhenBlalockinsiststhatThomasfollowhimto
JohnsHopkinsUniversity,theymustfindawaytoskirtaracistsystemtocon>nuetheirstudyofinfantheartdisease.Thomasis
indispensabletoBlalock'sprogress,butBlalockistheonlyonewhoisallowedtoreceivetheacclaim.
Vivien Thomas
–  InstructorofSurgeryandHonoraryDoctorateJohnsHopkins
University1976.
Adult Congenital Heart Disease
–  Defini>on
–  Examples
– Demographics
–  Evolu>onofSpecialtyCare
–  UniqueMedicalandNon-medicalConcerns
ACHD-Demographics
–  Approximately1in100birthshavesomeformofheartdefect.
–  In1960,<40%survivedtoadulthood.
–  Today,>90%survivetoadulthood.
–  >1millionadultsinU.S.livingwithCHD.
–  ACHDpopula>ongrowingatanes>mated5%peryear.
Improved CHD Survival
–  Improvedimagingandearlydiagnosis.
–  Improvedsurgicalandinterven>onaltechniques.
–  Advancesincri>calcareandEP.
ACHD-Demographics
–  MoreadultsthanchildrenarenowlivingwithCHD.
Adult Congenital Heart Disease
–  Defini>on
–  Examples
–  Demographics
– Evolu&onofSpecialtyCare
–  UniqueMedicalandNon-medicalConcerns
ACHD-Evolu)on of Specialty Care
–  Es>mated>50%ofCHDpa>entsarelosttofollow-upacer
adolescence.Only10%receivesubspecialtycare.
–  AdultCardiologyFellowshipsrequireonly6hoursoflecturetraining
inCHD.
–  In2012,76%ofPediatricCardiologistssurveyedcitedalackof
qualifiedACHDproviders.
– Currentlytherearemanypa?entswithtoo
fewspecialistsandprogramstotakecareof
them.
ACHD-Evolu)on of Specialty Care
–  “Bethesda32”2000:ACCconcludestheU.S.isnotmee>ngthe
needsofadultswithCHD.RecommendsACHDCenters.
–  ACCGuidelines2008:Specificpersonnelandservicesrecommended
forACHDCenters.Diseasespecificguidelinesforthecareofadults
withCHD.
–  ABIMOctober2015:FirstofferingofBoardExaminACHD.
–  ABIMhasappliedtoACGMEforaccredita&onofpostgraduate
trainingprogramsintheU.S.
–  ACHA2015:beginprocessofaccredi&ngACHDCenters.
Adult Congenital Heart Disease
–  Defini>on
–  Examples
–  Demographics
–  Evolu>onofSpecialtyCare
– UniqueMedicalandNon-medicalConcerns
Unique Concerns for ACHD
–  Congenitalsyndromes.
–  Endocardi>s,brainabscess.
–  Endocardi>sprophylaxis
–  Secondaryerythropoiesiswithirondeficiency.
–  Noncardiacsurgeryrisk.
–  Depressionandanxiety.
–  Insurance.
–  Medicalrecords.
–  Careerchoice.
–  Finances.
–  Transi>onofCare
–  Hemostasis.
–  Renalfunc>on.
–  Gallstones.
–  Pulmonaryvasculardisease.
–  Restric>velungdisease.
–  Orthopedic/rheumatologicdisease.
–  Varicoseveins.
–  Hepa>cconges>on/cirrhosis.
–  Thromboembolicdisease.
–  Proteinlosingenteropathy.
–  ?Opera>on,re-opera>on,interven>on,transplant.
–  Mortality
–  PregnancyandContracep>on
–  ExerciseandSports
–  ArrhythmiasandriskofSCD
Exercise and Sports
–  Symptomsaccountforonly30%ofallbarrierstoexercise.
–  Otherbarriers:lackofexperiencewithexerciseinchildhood,fear,
coexis>ngdisabili>es,culturalattudes.
–  Providershouldemphasizewhattodoforexerciseandde-emphasize
restric>ons.
–  “Bethesda36”Guidelinesavailableforcompe>>veathle>cs.
Compe>>onmayhinderprudentrecogni>onofsymptoms.
–  Nosuchguidelinesfornoncompe>>veexercise.
Regular, Moderate, Symptom-Limited Exercise
(Braunwald)
–  ReducescardiovascularmorbidityandmortalityinCADpa>ents.
–  Improvesfunc>onalcapacity,qualityoflifeandriskfactorsin
pa>entswithHTN,valvularheartdiseaseandchronicheartfailure.
–  Mostindividualswithstructuralheartdiseasecansafelypar>cipatein
prescribedphysicalac>vity.
Exercise
– “Progressgraduallyandpaya^en>ontoyoursymptoms.”
– Stopifchestdiscomfort,lightheaded,heartracing,orshort
ofbreathtopointyoucan’ttalk.
– Goal30+minuteseverydayofmoderatesymptomlimited
exercise.
– Caveatsfor:Marfan’s,cyano>cCHD,aor>cstenosis,
coarcta>on,devices.(Avoidanceofisometricexercise,high
intensitysportsandcontactsports).
Arrhythmias
– Symptoma>carrhythmiasarethemostfrequentreasonfor
hospitaladmissioninadultswithCHD.
– Hemodynamicstress,structuralabnormali>es,scars,
patches,andaccessorypathwaysallcontributetothehigh
incidenceoftachyandbradyarrhythmias.
Arrhythmias: IART
– Intra-AtrialRe-entrantTachycardia(IART)isseeninupto50%of
pa>entsinlongtermfollowupacersurgeryinvolvingtheRA
and/orLAduetomacroreentrantcircuits.
– 170-250bpm(vs300bpmfortypicalatrialflu^er).Canconduct
1:1toventriclesandcausesyncopeorevenSCD.
– PharmacologicRxdisappoin>ng.ConsiderATP,atrialICD,
abla>on.
Typical Atrial FluXer with 2:1 AV Conduc)on
A rate = 300, V rate = 150
IART (s/p atrial switch) with 1:1 AV Conduc)on
A rate = 190, V rate = 190
Bradyarrhythmias in ACHD
–  Sinusnodedamageacersurgeriesinvolvingtheatria.
–  AVBlockcomplica>ngsurgery(VSDrepair,LVOTrepair,AVR).
–  CongenitalAVBlock(CCTGA,AVSD).
–  Pacemakerindica>onsgenerallyfollowconven>onalguidelines.
Transient Complete Heart Block
(Septum Primum Atrial Septal Defect)
Arrhythmias: VT
–  35%ofrepairedTOFpa>entshavePVC’sorNSVT.Approximate6%
riskofsustainedVTorlateSCDduringlongtermfollowup.
–  Clinicalpredictors(imperfect)acerrepairedTOF:RVdilata>on,QRS
180msorgreater,ventricularectopyonHoltermonitor,PES.
–  Nogenerallyacceptedschemeforrhythmsurveillancein
asymptoma>cpa>ents.
–  Symptomsshouldpromptathoroughinves>ga>on.
Arrhythmias: Sustained VT, SCD
– Echo,cath,EPS.Ifsurgeryindicatedforstructuralheart
indica>onthenconsiderintra-opera>veVTmappingand
abla>on.
– Ifnosurgeryindicatedthenconsidercatheterabla>onofVT
(recurrencemaybe20%orgreaterinlongtermfollowup).
– Cardiacarrest,hemodynamicallysignificantVTandsustained
VTareClassIIaindica>onsforICDplacement.
– Op>mal>mingofICDplacementrepresentsacrucial
researchgap.
Arrhythmias: Device Concerns
– Venousreturntoheartocenabnormal.
– Incyano>cpa>entswithRtoLshuntthereisariskofleadrelatedsystemicembolism.
– Considerepicardialleadsorsubcutaneousdefibrillator.
– Abdominalorsubmusculargeneratorplacementanop>on
forcosme>cpurposes.
Subcutaneous ICD
Leadless Pacemaker
Adult Congenital Heart Disease
•  Growingpopula>on.
•  EvolvingNewSpecialty.
•  Uniqueconcerns.