心肌病的分类.ppt

,The4thChina-JapanCardiovascularForumNewClassificationsofCardiomyopathies,AkiraMatsumori,MD,PhD,FACC,FAHA,FESCPresident,InternationalSocietyofCardiomyopathiesandHeartFailureSecretary,WorldHeartFederationChairman,ScientificAdvisoryBoard113:1807-1816,IonChannelDisorders,LQTS,Brugada,SQTS,CPVT,AsianSUNDS,*Predominantlynongenetic,PRKAG2,Danon,GlycogenStorage,SecondaryCardiomyopathies,InfiltrativeStorageToxicityEndomyocardialInflammatory(granulomatous)EndocrineCardiofacialNeuromuscular/neurologicalNutritionaldeficiencyAutoimmune/collagenElectrolyteimbalanceConsequenceofCancertherapy,Circulation2019;113:1807-1816,GeneMutationsAssociatedwithMultiplePhenotypesofCardiomyopathies,-MyosinheavychainCardiactroponinT-TropomyosinCardiacmyosinbindingProteinCCardiactroponinIActinTitinDesminMuscleLIMproteinTelethoninDesmoplakinPlakoglobin,Gene,Phenotypes,HCM,DCM,RCM,ARVC/D,Sarcomereproteins,Z-discprotein,Desmosomeprotein,Intermediatefilaments,HypertrophicCardiomyopathy,Abouthalfofcasesshowfamilialoccurrence.AbouthalfoffamilialHCMhavegenemutationsofsarcomereproteins(25%oftotalHCM).Specific(Secondary)cardiomyopathiesoftenshowHCMphenotype.Storage:FabrysdiseaseInflammatory:SarcoidosisHCVcardiomyopathy,CoxsackieBvirusAdenovirusHepatitisCvirus,DilatedCardiomyopathy,Myocarditis,ViralInfectionandPhenotypesofCardiomyopathies,Circulation2019;92:2519-2525BiochemBiophysResCommun2019;222:678-682LabInv.2000;80:1137-1142,HypertrophicCardiomyopathy,ViralInfectionoftheHeart,DiffuseCHF/DCM,SystolicHF,RegionalAneurysm,SubendocardialRCM,DiastolicHF,ARVC/DLVAneurysm,RandomHypertrophy/HCM,Completerecovery,Diffusehypokinesis,Regionalabnormality,Subendocardiallesions,Increasedwallthickness,Unclassifiedabnormality,ViralMyocarditis,CHF/DCMSystolicHF,HCM,RCM,ARVC/D,DiastolicHF,HepatitisCVirus,L,V,Aneurysm,ARVC,HCM,DCM,Myocarditis,MatsumoriACircRes2019;96:144-147,HypertrophicObstructiveCardiomyopathyAssociatedwithHCVInfection,HE,CoreA-2,ApicalHypertrophicCardiomyopathyAssociatedwithHCVInfection,EndomyocardialBiopsyinPatientswithHCMwithHCVInfection,APatientwithHCM,HepatitisandNephritisAssociatedwithHCVInfection,BiopsyFindinginaPatientwithHypertropicCardiomyopathy,HepatitisandNephritis,Kidney,Heart,Liver,AcuteHepatitis,ChronicHepatitis,LiverCirrhosis,MyocardialFibrosis,DCM,AcuteMyocarditis,ChronicInflammation,HepaticFailure,HCC,HCM,85%,20%,6%,4%,HCVHepatitis,HCVCardiomyopathies,AnAtypicalVariantofFabrysDiseaseinMenwithLeftVentricularHypertrophy.,NakaoSetalNEJM2019;333:288-293,FabrysdiseaseisanX-linkedrecessivedisorderthatresultsfromadeficiencyof-galactosidase.Sevenofthe230patients(3%)ofHCM.,FabrysDiseasePresentedasHCM,Alpha-galactosidaseactivity0.7nmoles/hr/ml(Normal4.8-17.6nmoles/hr/ml),IVST20mmLVPWT11mmLVEDD58mmLVESD45mmLVEF45%UCG,201TlScintigraphy,IncreaseduptakeatIVSandanteriorwallIncreasedLVcavitycomparedtothoseof1.5yrbefore.,HeartDiseaseinFriedreichsAtaxiaObservationofaCaseforHalfaCentury.,KawaiC,KatoSetalJpnCircJ2000;64:229-236,IVST14mmLVPWT12mm,Disarrangementofbizzare-shapedmyocardialfiberswithhypertrophyandinterstitialfibrosis,HypertrophicCardiomyopathyasaManifestationofCardiacSarcoidosis.,MatsumoriAetalJpnCircJ2000;64:679-683,Sixof82(7.3%)patientswithsarcoidosishaveechocardiographicabnormality.Fourof82(4.8%)showedphenotypeofHCM.ASH:2cases,APH:1case,Depar,tmentofCardiovascular,Medicine,KyotoUniversity,LVAneurysminaPatientwithHCVCardiomyopathy,VT,HepatitisC(IFNRx),Lymphadenopathy,FH:HepatitisC,HCCin2brothers,UCG:IVS16mm,LVPW13mm,LVDd47mm,LVDs37mm,EF36%,RAO,ED,ES,MT,52,M,DetectionofHCVRNAinHeartTissuesfromPatientswithARVC,n,Positiven,Frequency,WHFCouncilofCardiomyopathiesNationalCardiovascularCenter,Japan,639,224,33.0%66.7%44.4%,Total,ImmunohistochemicalStainingofHCVCoreProteinintheHeartfromPatientswithARVC/D,GeneticBackgroundoftheHostInfluencesthePhenotypeofCardiomyopathies,HLAandHCM,HLA-DRW4antigenlinkageinpatientswithhypertrophicobstructivecardiomyopathyMatsumoriAetal.AmHeartJ.1981;101:14-16.HLAinhypertrophiccardiomyopathyandrheumaticheartdiseaseMatsumoriAetal.JpnCircJ1979;43:445-449HL-AandHypertrophicCardiomyopathyMatsumoriAetal.AmHeartJ1979;97:428-431,FrequenciesofDPB1AllelesinPatientsWithHCV-AssociatedCardiomyopathyandControls,BothDPB1*0401andDPB*0901wassignificantlyassociatedwithHCV-HCM(*P0.05),whereasnoneofDPB1alleledemonstratedsignificantassociationwithHCV-DCM,ShichiD,MatsumoriA,etal.IntJImmunogenet2019;35:37-43,AssociationwithPolymorphicofDP-ChaininHCV-HCM,ShichiD,MatsumoriA,etal.IntJImmunogenet2019;35:37-43,ThepolymorphicresiduesfromDPB1alleleslocatedinP9pockets(atposition36Aand55A)showedpositiveassociationswithHCV-HCM.Incontrast,fivepolymorphicresiduesshowedsignificantnegativeassociations:76MinP4pockets;8Land11GinP6pockets;9FinP9pocketsand57EadjacenttoP9pocket.Quiteinterestingly,alltheresiduesshowingsignificantpositiveornegativeassociationscomposedofDPB1*0401.,TheSusceptibleGeneMappingforHCV-DCMandHCMwithMicrosatelliteMarkersthroughouttheHLAregion,OddsRatio,CorrectedP,SusceptibilitytoHCV-DCMwasmappedatthelocusspanningfromNFKBlL1toBAT1lociwithintheHLAclassIIIsubregion.HCV-HCMwasassociatedwithDPB1alleles.Thecandidategenesmayencodemoleculesinvolvedintheimmunityandinflammation.,ShichiDetalTissueAntigen2019:66:200,HCM,DCM,HLAandHCVInfection,OurstudyprovidesnewandsuggestiveinformationontheimmunologicalinvolvementofDPB1geneintheHCV-HCMdevelopment.ThepolymorphicaminoacidsresiduesbywhichtheDPchainadoptspecificitypocketappeartoinfluenceondisease-susceptibilityattheallelicmannerlevel.TheexistenceofdifferentriskallelesamongHCV-relateddiseasesincludingchronicliverdisease,asymptomaticcarrierandHCV-DCMsuggeststhateachclinicaloutcomemayarisefromdistinctpathogenicconditionsonthebasisofdifferentialHLA-mediatedimmuneresponses.,EtiologyofHCM,HCM,Genetic,Inflammatory,Sarcomere,Storage,Virus,Unknown,EtiologyofDCM,DCM,Genetic,Inflammatory,Sarcomere,Storage,Virus,Unknown,EtiologyofARVC/D,ARVC/D,Genetic,Inflammatory,Virus,Unknown,DefinitionandClassificationsofCardiomyopathies,EtiologicalClassificationA.GeneticB.InfectiousC.NutritionalD.UnknownII.Anatomical(Structural)ClassificationA.Dilateda.LVb.RVB.Hypertrophica.Septumb.Diffusec.Freewalld.ApexIII.Physiological(mechanical)ClassificationA.Systolicfailure/dysfunctionB.Diastolicfailure/dysfunctionC.BothD.NormalfunctionIV.ElectricalClassificationIonchanneldisordersConductionsystemdiseaseOthers,Definitiona