L’anatomie des cardiopathies congénitales : un apprentissage

sans fin? Lucile HOUYEL

Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique

Necker-Enfants Malades - M3C

40èmeSéminairedeCardiologieCongénitaleetPédiatrique

Paris,21mars2019

Cardiac anatomy : a very old science…

•  500BC:Alcméon,Crotone:thefirsttopracticedissections,differencebetweenarteriesandveins

•  Firstanatomicdescriptionoftheheart:Philistion,Sicilia,300-350BC

•  ThefirstCHDdescribed=1671:Stenson 1888:Fallot

•  Malpositionsofthegreatarteries–  1797:Baillie:«averysingularmalformationoftheheart» 1814:Farré:transpositionofthe greatvessels

–  1875:vonRokitansky:congenitallycorrectedtransposition

–  1888:Vierordt:partialtransposition(DORV=1957,Taussig-Bing1949)

–  1967:DOLV,anatomicallycorrectedmalpositionofthegreatarteries

Cardiac anatomy : congenital heart defects

The modern era : the pioneers

Stella et Richard Van Praagh Boston, MA, USA

Robert H. Anderson London, GB

1964 1971

Anatomy of CHD : are we still learning ?

•  Yes,ofcourse•  Constantly!•  Newcases,newmalformationsneverdescribedbefore

•  Classifications•  «Revisiting»alreadyknownmalformations

–  Linkwithcardiacdevelopmentandgenetics–  Improvethedescriptionofthephenotypes

Can we still find « new » CHD?

•  Firstpregnancy•  Antenataldiagnosisofcommonarterialtrunk(2ndtrimester)

•  Truncalvalvequadricuspid,stenotic

•  Coarctation?IAA?•  ??????

Can we still find « new » CHD ?

JacobsML.AnnThoracSurg2000VanPraaghR.EurJCardiothSurg1987

Can we still find « new » CHD ? Common arterial trunk « 3/4 »

CourtesyF.Raimondi

Classifications What for?

«Malnommerunobjetc’estajouteraumalheurdecemonde»AlbertCamus

Classifications : the end of the Babel’s tower?

•  Classifications:absolutenecessity,inordertospeakthesamelanguage

•  Multimodalityimaging

•  Clinicians,imagers,andsurgeons

First classification of CHD : Maude Abbott

Centenary Meeting of the British Medical Association in London, England, 1932

Atlas of congenital cardiac disease Maude Abbott, 1936

•  92casesofpersistenceofthe«shuntbetweenaortaandPA»

•  1938:Gross=ligatureofpersistentarterialduct

•  1945:firstBlalock-Taussig-Thomasshunt

Atlas of congenital cardiac disease Maude Abbott, 1936

Anatomic and Clinical

Classification of Congenital Heart Defects

(ACC-CHD) based on the IPCCC

EPICARDStudy«HoBoClassification»

HouyelL,KhoshnoodB,AndersonRH,LelongN,ThieulinAC,GoffinetF,BonnetD;theEPICARDStudygroup.OrphanetJRareDis.2011Oct3;6(1):64KhoshnoodB,LelongN,HouyelL,ThieulinAC,JouannicJM,MagnierS,DelezoideAL,MagnyJF,RambaudC,BonnetD,GoffinetF;onbehalfoftheEPICARDStudyGroup.Heart2012;98;1667-73.

•  10maincategories1.   Heterotaxy,includingisomerism2.  Anomaliesofthevenousreturns3.  Anomaliesoftheatriaandinteratrialcommunications4.  Anomaliesoftheatrioventricularjunctionandvalves5.  Complexanomaliesoftheatrioventricularconnections6.   Functionallyuniventricularhearts7.   Ventricularseptaldefects8.  Anomaliesoftheventricularoutflowtracts(VAconnections)9.  Anomaliesoftheextrapericardialarterialtrunks10. Congenitalanomaliesofthecoronaryarteries

•  23subcategories•  IPCCCcodes

Anatomic and Clinical Classification of Congenital Heart Defects (ACC-CHD) based on the IPCCC

ICD (International classification of

diseases, WHO) and Congenital Heart Defects

•  ICD-9(1975):29items

•  ICD-10(1989):73items

•  ICD-11(2018):324items,withcorrespondingIPCCCcode,definitions,synonymsandcommentaries

FranklinRCGetal.Nomenclatureforcongenitalandpaediatriccardiacdisease:TheIPCCCandtheICD-11.CardiolYoung2017;27:1872-1938.

International Society for Nomenclature of Paediatric and Congenital Heart Disease

Why do we need classifications ?

•  ToestablishanuniversallanguageforpeopledealingwithCHDallovertheworld

•  ICD-11:translationinprogress BélandMJetal.CanJCardiol2018

•  Databases•  Codingnotonlyforbilling,butalsoforscientificpurposes

•  Toimprovetheprecisionofdiagnosticandbetteridentifythephenotypes

Revisiting the anatomy of CHD Do we have still something to learn?

•  Heterotaxy•  Ventricularseptaldefects•  CongenitallycorrectedTGA(doublediscordance)

Revisiting the anatomy of CHD Heterotaxy

HTX

Heterotaxy.. or isomerism?

•  Isomerism:impliesanideaofsymmetryandanotsorandomorganisation

•  Isomerismofthepectinatemuscles:notalwayspresentinheterotaxy

•  Lateralitydefect•  Randomorganisationoftheintrathoracicandintraabdominalorgans

UemuraHetal.AnnThoracSurg1995TremblayCetal.CardiolYoung2017

AndersonRH

VanPraaghR,VanPraaghS.AmJCardiol1990

Pectinatemuscles

Leftatrium

CSorifice

Rightatrium

Coronarysinus

Fetalheart,32SABronchopulmonaryleftisomerism,midlineliver,

intestinalmalrotation,bilobedspleen

InterruptionoftheIVCwithazygosreturn,LSVCtocoronarysinus,normalPVsCompleteAVcanal,DORV{S,D,D},LV

hypoplasia,coarctation

RSVC

Heterotaxy.. or isomerism?

Heterotaxy: can (should) we classify? •  Aim:toestablishdevelopmentalandgeneticlinks

•  Historically:rightisomerism=asplenia, leftisomerism=polysplenia

•  But:thespleenisabnormalonlyin60%ofheterotaxypatients(Lin,AmJMedGenetA2014)

•  Bronchialanatomy:bettercorrelation,butdiscordancein21%to25%ofpatients(Loomba,CardiolYoung2016)(Yim,CircCVimaging2018)

•  Pectinatemusclescanbeanalysedonlyatautopsy…..

•  Moreandmoreexceptions,challengingallclassifications

•  Eachpatientisunique,andthearrangementoforgansisoftenamixofthetwocategories«right-sidedness»et«left-sidedness»

Heterotaxy? Or isomerism?

•  Establishthediagnosisofheterotaxy–  Abnormalsymmetryofcertain

visceraandveins,and/orsitusdiscordancebetweenvariousorgansystemsandbetweenthevarioussegmentsoftheheart(VanPraaghS,2006)

–  Atleast3/8characteristicCHDorextracardiacabnormalities (Lin2014)

•  Lookforbronchialisomerism

•  Then:describeandbeanalytic++++

1 CharacteristicCHD-  TAPVR,PAPVR-  AtrialSIorSA,commonatrium-  AVSD-  Ventricularhypoplasiaor

malposition-  VAalignmentabnormalities

(DORV,DOLV,TGA,CAT,TOF)-  LVOTOorRVOTO

2 Biliaryatresia

3 Abdominalsitusabnormality

4 Spleenabnormality

5 Isomerismofbronchi

6 Isomerismofthelungs

7 Similarmorphologyoftheatrialappendages

8 2ofthefollowing:-  Systemicvenousanomalies-  Intestinalmalrotation-  Absentgallbladder

VSD International Society for Nomenclature of Paediatric and Congenital Heart Disease

Revisiting the anatomy of CHD The VSDs

Outlet VSD Anatomic characteristics

q  AlloutletVSDs(exceptsomejuxta-arterialVSDs)arelocatedbetweenthetwolimbsoftheYoftheseptalband

q  Lackoffusionbetweentheoutletseptumandtheventricularseptum

q  AllcardiacneuralcrestdefectssharethesameVSD

q  Borders:thepostero-inferior rimcanbefibrous («outletpm»)or muscular(outlet muscular)

PAOutletS

Mostefa-Karaetal,JTCS2015

PA

OTrotation

Outlet VSD with anteriorly malaligned outlet septum: same geography, different borders

Fibrous(«outletperimembranous») Muscular(«outletmuscular»)

TV

Outletseptum

Outletseptum

CourtesyD.Bonnet

Outlet VSD versus central perimembranous VSD: same borders, different geography

CentralpmVSD:BELOWtheupperseptalattachmentsoftheTV

OutletVSDwithanteriorlymalalignedoutletseptum:ABOVEtheupperseptalattachmentsoftheTV

•  Antenataldiagnosis•  OutletVSD=cardiacneuralcrestdefects(microdeletion22q1.1)

•  CentralpmVSD=trisomies

Outlet VSD versus central perimembranous VSD: same borders, different geography

CourtesyX.Iriart

Classification and nomenclature of VSDs q ISNPCHDICD-11q Classificationin4maincategories,basedon

geographyq  Centralperimembranousq  Inletq  Trabecularmuscularq  Outlet

q Ineachcategory(outletVSDs):subclassificationaccordingtobordersq  Perimembranous(fibrouscontinuity)q  Muscular

q Aim:harmonizeandunifythedifferentapproachesbetweenclinicians,imagers,surgeons,andanatomists

Les CIV

q  CentralperimembranousVSD(07.10.01)q  InletVSDwithoutacommonatrioventricularjunction(07.14.05)*

§  InletVSDwithoutatrioventricularseptalmalalignmentwithoutacommonAVjunctionandwithperimembranousextension(07.10.02)§  InletVSDwithatrioventricularseptalmalalignmentandwithoutacommonAVjunction(07.14.06)§  InletmuscularVSD(07.11.02)

q  TrabecularmuscularVSD(07.11.01)§  TrabecularmuscularVSD:Midseptal(07.11.04)§  TrabecularmuscularVSD:Apical(07.11.03)§  TrabecularmuscularVSD:Postero-inferior(07.11.12)§  TrabecularmuscularVSD:Anterosuperior(07.11.07)§  TrabecularmuscularVSD:Multiple(“Swisscheese”septum)(07.11.05)

q  OutletVSD(07.12.00)v  OutletVSDwithoutmalalignment(07.12.09)

•  OutletmuscularVSDwithoutmalalignment(07.11.06)•  Doublycommittedjuxta-arterialVSDwithoutmalalignment(07.12.01) Doublycommittedjuxta-arterialVSDwithoutmalalignmentandwithmuscularpostero-inferiorrim(07.12.02) Doublycommittedjuxta-arterialVSDwithoutmalalignmentandwithperimembranousextension(07.12.03)

v  OutletVSDwithanteriorlymalalignedoutletseptum(07.10.17)

•  OutletmuscularVSDwithanteriorlymalalignedoutletseptum(07.11.15)•  OutletVSDwithanteriorlymalalignedoutletseptumandperimembranousextension(07.10.04)•  Doublycommittedjuxta-arterialVSDwithanteriorlymalalignedfibrousoutletseptum(07.12.12)Doublycommittedjuxta-arterialVSDwithanteriorlymalalignedfibrousoutletseptumandmuscularpostero-inferiorrim(07.12.07)Doublycommittedjuxta-arterialVSDwithanteriorlymalalignedfibrousoutletseptumandperimembranousextension(07.12.05)

v  OutletVSDwithposteriorlymalalignedoutletseptum(07.10.18)•  OutletmuscularVSDwithposteriorlymalalignedoutletseptum(07.11.16)•  OutletVSDwithposteriorlymalalignedoutletseptumandperimembranousextension(07.10.19)•  Doublycommittedjuxta-arterialVSDwithposteriorlymalalignedfibrousoutletseptum(07.12.13)Doublycommittedjuxta-arterialVSDwithposteriorlymalalignedfibrousoutletseptumandmuscularpostero-inferiorrim(07.12.08)Doublycommittedjuxta-arterialVSDwithposteriorlymalalignedfibrousoutletseptumandperimembranousextension(07.12.06)

*TheinterventricularcommunicationassociatedwithacommonAVjunction(VSDcomponentofanAVseptalorAVcanaldefect)shouldbeconsideredinthecommonAVjunctionsectionforcodingpurposes(AVseptaldefect:ventricularcomponent,06.06.04).

Classification of VSD for ICD-11 (LopezLetal.AnnThoracSurg2018;106:1578-89)

Central perimembranous VSD: Parasternal long-axis and short-axis view

CourtesyX.Iriart

Inlet VSD : the 4-chamber view

CentralperimembranousVSD InletVSD InletVSDwithinletextension CommonAVjunction MalalignementAS/VS

StraddlingTV

The membranous septum

MoriSetal.ClinicalAnatomy2016;29:353–363

PA

T

SB

AL

PL

PMC VIF

AML

Ao

LV

Atrioventricularmembranousseptum

Interventricularmembranousseptum

Central/inlet perimembranous VSD

INDIRECTfibrouscontinuitybetweenMandTvalves =CENTRALPM

DIRECTfibrouscontinuitybetweenMandTvalves=CENTRALPMWITHINLETEXTENSION(=INLETpmVSD)

VSD:Whatdidwelearn?

OUTLET

INLET

CENTRALPM

TRABECULARMUSCULAR

OUTLETSEPTUM:Associatedlesions,outcomeBORDERS:Conductiontissue

GEOGRAPHY:Etiology,associatedlesions,outcome

BORDERS:differentialdiagnosis

Revisiting the anatomy of CHD ccTGA (double discordance)

•  0,5%ofallCHD•  Lateralitydefect•  DiscordantAVconnections•  DiscordantVAconnections•  S,L,L•  Rarelyisolated•  OftenassociatedwithVSD,RV

hypoplasia,subpulmonarystenosisorpulmonaryatresia

•  Alwaysassociatedwithabnormallocationoftheconductionsystem

Revisiting the anatomy of CHD ccTGA (double discordance)

ccTGA (double discordance) the VSD enigma

•  VSD:80-85%(anatomicseries) 60-65%(clinicalseries)

•  1.WhereistheVSD?–  Subpulmonary,outletpm?

–  Inlet?–  Centralpmwithinletextension?

–  Outlet(conoventricular)?

•  2.Whyisitsodifficulttodescribe?

Allworketal.AmJCardiol1976

Kuttyetal.Heart2018

VanPraaghetal.AmHeartJ1998

Hornungetal.Heart2010

q  TheRVandthetricuspidvalvearealmostalwaysabnormal

q RVsinushypoplasia,+/-Ebstein

q Constrictionofthejunctionbetweeninletandoutlet

q TheYoftheseptalbandlooksabnormal

Ao

Inlet

Outlet

Allworketal.AmJCardiol1976Bridaetal.Circulation2018;137:508-18

The RV in double discordance

Apex

TV

q  AretheventriclesinccTGAjustinverted?Orcompletelydifferentfromanormalheart?

q Aretheyreallydifferentordotheyjustappeardifferent?

q Opticalillusion?q Iftheyaredifferent,isitbecauseoftheL-loop?OroftheL-malpositionofthevessels?

Questions

The VSD in ccTGA Nicolas Arribard, M2

•  31ccTGA:VSD=84%•  Classification:TVupperseptalattachments– Above:outletVSD–  Below:InletVSD

•  Results– Outlet=65%–  Inlet=23%– Muscular=4%

–  Confluent=8%(inlet/outlet)

VSD

Ao

UpperseptalTVattachmentsAo

VSD

UpperseptalTVattachments

Lopezetal.AnnThoracSurg2018

ccTGA: the membranous septum •  Isonlyanatrioventricularstructure(LA/LV)•  FillsthegapbetweenthemalalignedAandVseptum

Ao

Ao

SB

PB

LA

PA

M

Leftventricle,right-sided Rightventricle,left-sided

The anatomy of the right ventricle in ccTGA

q  31ccTGA,36TGA,35normalhearts

q  Anatomyoftheseptalband:ccTGAisclosertonormalheartthanTGA!

q  PosteriorlimbshorterinccTGA:illusionofaninletVSD

ccTGA TGA Normalheart

p

AngleAL/PL 76°4 90°8* 76°1 0.01

AngleAL/arterialvalve

70°6 90°6* 69°1 0.0004

RatioAL/PL 3.7* 2.3 1.5 0.0003

AB

C

1

2 3

4

The anatomy of the right ventricle in ccTGA

q  Thegoemetryoftheoutflowtractissimilar(butmirror-imaged)inNHandinccTGA,despitetheVAdiscordance

q  InTGA,theoutflowtractisstraight(norotation)

q  ccTGAisnotaTGA!!!q  Couldthisexplainthebetter

longevityofthesystemicRVinccTGAvsTGApost-atrialswitch?

Ao

AoPA

NH

TGA

ccTGA

L’anatomie des cardiopathies congénitales :

Imaginer demain

Cardiac specimens.. A thing of the past?

CourtesyTWINMEDICAL