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.� RangefromSimpletoModeratelyComplextoHighlyComplex.

� RepairedorUnrepaired.� Cyano>corNon-cyano>c.

Down Syndrome � Trisomy21.� AVCanalDefect,VSD,ASD,TOF,ormul>pledefects.

Turner Syndrome � AbsentorabnormalXchromosome(~50%are45XO).� Coarcta>on,PAPVR.

Noonan Syndrome

�  SimilartoTurnerSyndromebutwithnormalcomplementofchromosomes.MutatedPTPN11orKRASgene.Autosomaldominant.

� 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).

� MajorityofisolatedcasesofCHDhavenoapparentcause.

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>onoraor>cregurgita>on?

�  Heritablecause(eg:22q11dele>on)?�  Arrhythmias?�  IncreasedriskofSCD.�  Favorablelongtermprognosis(86%30yearspostop)but:

� RepairedTOFisnotcuredTOF.

ACHD-Highly Complex: VSD with Eisenmenger Physiology

� VSDcorrectedbeforeEisenmengerphysiologydevelopshasanexcellentlongtermoutlook.

VSD with Eisenmenger Physiology

VSD with Eisenmenger Physiology

�  Ini>alLtoRshuntleadstomedialthickeningofpulmonaryvasculature.

� Resultantincreaseinpulmonaryvascularresistanceul>matelyleadstoRtoLshunt.

� O2-unresponsivehypoxemiaresults.

VSD with Eisenmenger Physiology

� WhenPVRexceeds70%ofSVRduetoirreversiblechangesinthepulmonaryvasculature,theriskofsurgicalrepairoftheVSDbecomesprohibi>veduetothelikelihoodofpostopera>vedeathfromRVfailure.

Eisenmenger Syndrome

VSD with Eisenmenger Physiology

� Progressivedyspneaonexer>on.�  Secondaryerythrocytosisandirondeficiencycanleadtohyperviscosityproblems(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+excisionofinteratrialseptum.

� 23y.o.:Successfulpregnancy.� 27y.o.:Pulmonaryarterystent+coilingofGlenn“pop-off”collaterals.

� 30y.o.:CoilingofnewGlenncollaterals.

AlthoughVivienThomas(MosDef),ablackmaninthe1930s,isoriginallyhiredasajanitor,heproveshimselfadeptatassis>ngthe''BlueBabydoctor,''AlfredBlalock(AlanRickman),withhismedicalresearch.WhenBlalockinsiststhatThomasfollowhimtoJohnsHopkinsUniversity,theymustfindawaytoskirtaracistsystemtocon>nuetheirstudyofinfantheartdisease.ThomasisindispensabletoBlalock'sprogress,butBlalockistheonlyonewhoisallowedtoreceivetheacclaim.

Vivien Thomas

�  InstructorofSurgeryandHonoraryDoctorateJohnsHopkinsUniversity1976.

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-upaceradolescence.Only10%receivesubspecialtycare.

� AdultCardiologyFellowshipsrequireonly6hoursoflecturetraininginCHD.

�  In2012,76%ofPediatricCardiologistssurveyedcitedalackofqualifiedACHDproviders.

� Currentlytherearemanypa?entswithtoofewspecialistsandprogramstotakecareofthem.

ACHD-Evolu)on of Specialty Care

�  “Bethesda32”2000:ACCconcludestheU.S.isnotmee>ngtheneedsofadultswithCHD.RecommendsACHDCenters.

� ACCGuidelines2008:SpecificpersonnelandservicesrecommendedforACHDCenters.DiseasespecificguidelinesforthecareofadultswithCHD.

� ABIMOctober2015:FirstofferingofBoardExaminACHD.� ABIMhasappliedtoACGMEforaccredita&onofpostgraduatetrainingprogramsintheU.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.

�  Hemostasis.

�  Renalfunc>on.

�  Gallstones.

�  Pulmonaryvasculardisease.

�  Restric>velungdisease.

�  Orthopedic/rheumatologicdisease.

�  Varicoseveins.�  Hepa>cconges>on/cirrhosis.

�  Thromboembolicdisease.

�  Proteinlosingenteropathy.

�  ?Opera>on,re-opera>on,interven>on,transplant.

�  Insurance.�  Medicalrecords.�  Careerchoice.�  Finances.�  Transi>onofCare

� Mortality� PregnancyandContracep>on� ExerciseandSports� ArrhythmiasandriskofSCD

Exercise and Sports

�  Symptomsaccountforonly30%ofallbarrierstoexercise.� Otherbarriers:lackofexperiencewithexerciseinchildhood,fear,coexis>ngdisabili>es,culturalattudes.

� Providershouldemphasizewhattodoforexerciseandde-emphasizerestric>ons.

�  “Bethesda36”Guidelinesavailableforcompe>>veathle>cs.Compe>>onmayhinderprudentrecogni>onofsymptoms.

� Nosuchguidelinesfornoncompe>>veexercise.

Regular, Moderate, Symptom-Limited Exercise (Braunwald)

� ReducescardiovascularmorbidityandmortalityinCADpa>ents.�  Improvesfunc>onalcapacity,qualityoflifeandriskfactorsinpa>entswithHTN,valvularheartdiseaseandchronicheartfailure.

� Mostindividualswithstructuralheartdiseasecansafelypar>cipateinprescribedphysicalac>vity.

Exercise

� “Progressgraduallyandpaya^en>ontoyoursymptoms.”� Stopifchestdiscomfort,lightheaded,heartracing,orshortofbreathtopointyoucan’ttalk.

� Goal30+minuteseverydayofmoderatesymptomlimitedexercise.

� Caveatsfor:Marfan’s,cyano>cCHD,aor>cstenosis,coarcta>on,devices.(Avoidanceofisometricexercise,highintensitysportsandcontactsports).

Arrhythmias

� Symptoma>carrhythmiasarethemostfrequentreasonforhospitaladmissioninadultswithCHD.

� Hemodynamicstress,structuralabnormali>es,scars,patches,andaccessorypathwaysallcontributetothehighincidenceoftachyandbradyarrhythmias.

Arrhythmias: IART �  Intra-AtrialRe-entrantTachycardia(IART)isseeninupto50%ofpa>entsinlongtermfollowupacersurgeryinvolvingtheRAand/orLAduetomacroreentrantcircuits.

� 170-250bpm(vs300bpmfortypicalatrialflu^er).Canconduct1:1toventriclesandcausesyncopeorevenSCD.

� 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,QRS180msorgreater,ventricularectopyonHoltermonitor,PES.

� Nogenerallyacceptedschemeforrhythmsurveillanceinasymptoma>cpa>ents.

�  Symptomsshouldpromptathoroughinves>ga>on.

Arrhythmias: Sustained VT, SCD

� Echo,cath,EPS.Ifsurgeryindicatedforstructuralheartindica>onthenconsiderintra-opera>veVTmappingandabla>on.

� Ifnosurgeryindicatedthenconsidercatheterabla>onofVT(recurrencemaybe20%orgreaterinlongtermfollowup).

� Cardiacarrest,hemodynamicallysignificantVTandsustainedVTareClassIIaindica>onsforICDplacement.

� Op>mal>mingofICDplacementrepresentsacrucialresearchgap.

Arrhythmias: Device Concerns

� Venousreturntoheartocenabnormal.� Incyano>cpa>entswithRtoLshuntthereisariskoflead-relatedsystemicembolism.

� Considerepicardialleadsorsubcutaneousdefibrillator.� Abdominalorsubmusculargeneratorplacementanop>onforcosme>cpurposes.

Subcutaneous ICD

Leadless Pacemaker

Adult Congenital Heart Disease

• Growingpopula>on.•  EvolvingNewSpecialty.• Uniqueconcerns.