心肌病的分类ppt课件

1、 The 4th China-Japan Cardiovascular Forum New Classifications of Cardiomyopathies Akira Matsumori, MD, PhD, FACC, FAHA, FESCPresident, International Society of Cardiomyopathies and Heart FailureSecretary, World Heart FederationChairman, Scientific Advisory Board & Treasurer, APSCKyoto University

2、 Graduate School of MedicineKyoto , JapanOctober 23, 2021, NormalDilatedHypertrophicRestrictiveArrhythmogenicRight VentricularSystoleDiastoleClassification of CardiomyopathiesPrimary Cardiomyopathies(predominantly involving the heart)GeneticMixed*AcquiredHCMARVC/DLVNCConductionDefectsMitochondrialmy

3、opathiesDCMRestrictive(non-hypertrophiedand non-dilated)Inflammatory(myocarditis)Stress-provokedtako-tsuboPeripartumTachycardia-inducedInfants of insulin-dependentDiabetic mothersCirculation 2006; 113:1807-1816Ion Channel DisordersLQTSBrugadaSQTSCPVTAsian SUNDS*Predominantly nongeneticPRKAG2DanonGly

4、cogenStorageSecondary CardiomyopathiesInfiltrativeStorageToxicityEndomyocardialInflammatory (granulomatous)EndocrineCardiofacialNeuromuscular/ neurologicalNutritional deficiencyAutoimmune/ collagenElectrolyte imbalanceConsequence of Cancer therapyCirculation 2006; 113:1807-1816Gene Mutations Associa

5、ted with Multiple Phenotypes of Cardiomyopathies -Myosin heavy chainCardiac troponin T -TropomyosinCardiac myosin bindingProtein CCardiac troponin I ActinTitinDesminMuscle LIM proteinTelethoninDesmoplakinPlakoglobinGenePhenotypesHCMDCMRCMARVC/DSarcomere proteinsZ-disc proteinDesmosome proteinInterme

6、diate filamentsHypertrophic Cardiomyopathy About half of cases show familial occurrence. About half of familial HCM have gene mutations of sarcomere proteins (25% of total HCM). Specific (Secondary) cardiomyopathies often show HCM phenotype. Storage: Fabry s disease Inflammatory: Sarcoidosis HCV car

7、diomyopathyCoxsackie B virusAdenovirusHepatitis C virusDilated Cardiomyopathy Myocarditis Viral Infection and Phenotypes of CardiomyopathiesCirculation 1995; 92: 2519-2525Biochem Biophys Res Commun 1996; 222: 678-682Lab Inv. 2000; 80: 1-1142Hypertrophic CardiomyopathyViral Infection of the HeartDiff

8、useCHF/DCMSystolic HFRegionalAneurysmSubendocardialRCMDiastolic HFARVC/DLV AneurysmRandomHypertrophy/HCMVirusReceptorMyocyteFibroblastCompleterecoveryDiffusehypokinesisRegionalabnormalitySubendocardiallesionsIncreasedwall thicknessUnclassifiedabnormalityViral MyocarditisCHF/DCMSystolic HFHCMRCMARVC/

9、DDiastolic HFHepatitis C Virus LV AneurysmARVCHCMDCMMyocarditisMatsumori A Circ Res 2005;96:144-147Hypertrophic Obstructive Cardiomyopathy Associated with HCV InfectionHECoreA-2Immunohistochemical Staining of HCV Core Antigen in the Heart of a Patient with HCM Apical Hypertrophic Cardiomyopathy Asso

10、ciated with HCV InfectionEndomyocardial Biopsy in Patients with HCM with HCV InfectionA Patient with HCM, Hepatitis and Nephritis Associated with HCV InfectionBiopsy Finding in a Patient with Hypertropic Cardiomyopathy,Hepatitis and NephritisKidneyHeartLiverAcute HepatitisChronic HepatitisLiver Cirr

11、hosisMyocardialFibrosisDCMAcute MyocarditisChronicInflammationHepaticFailureHCCHCM85%20%6%4%HCV HepatitisHCV CardiomyopathiesAn Atypical Variant of Fabrys Disease in Men with Left Ventricular Hypertrophy. Nakao S et al NEJM 1995;333:288-293 Fabry s disease is an X-linked recessive disorder that resu

12、lts from a deficiency of -galactosidase. Seven of the 230 patients (3%) of HCM.Fabry s Disease Presented as HCM Alpha-galactosidase activity 0.7 n moles/hr/ml (Normal 4.8-17.6 n moles/hr/ml)IVST 20 mmLVPWT 11 mmLVEDD 58 mmLVESD 45 mmLVEF 45%UCG201 Tl ScintigraphyIncreased uptake at IVS and anterior

13、wallIncreased LV cavity compared to those of1.5 yr before.Heart Disease in Friedreichs Ataxia Observation of a Case for Half a Century. Kawai C, Kato S et al Jpn Circ J 2000;64:229-236IVST 14mmLVPWT 12mmDisarrangement of bizzare-shapedmyocardial fibers with hypertrophy and interstitial fibrosis Hype

14、rtrophic Cardiomyopathy as a Manifestation of Cardiac Sarcoidosis. Matsumori A et al Jpn Circ J 2000;64:679-683 Six of 82 (7.3%) patients with sarcoidosis have echocardiographic abnormality. Four of 82(4.8%) showed phenotype of HCM. ASH: 2 cases, APH: 1 caseDepar tment of Cardiovascular Medicine, Ky

15、oto University LV Aneurysm in a Patient with HCV CardiomyopathyVT , Hepatitis C (IFN Rx), Lymphadenopathy FH: Hepatitis C, HCC in 2 brothers UCG: IVS 16mm, LVPW 13mm, LVDd 47mm, LVDs 37mm, EF 36%RAOEDESMT 52 MDetection of HCV RNA in Heart Tissues from Patients with ARVCnPositive nFrequencyWHF Counci

16、l ofCardiomyopathiesNational CardiovascularCenter, Japan63922433.0%66.7%44.4%TotalImmunohistochemical Staining of HCV Core Protein in the Heart from Patients with ARVC/DGenetic Background of the Host Influences the Phenotype of CardiomyopathiesHLA and HCMHLA-DRW4 antigen linkage in patients with hyp

17、ertrophic obstructive cardiomyopathy Matsumori A et al. Am Heart J. 1981;101:14-16. HLA in hypertrophic cardiomyopathy and rheumatic heart disease Matsumori A et al. Jpn Circ J 1979;43:445-449HL-A and Hypertrophic Cardiomyopathy Matsumori A et al. Am Heart J 1979;97:428-431 Frequencies of DPB1 Allel

18、es in PatientsWith HCV-Associated Cardiomyopathy and ControlsBoth DPB1*0401 and DPB*0901 was significantly associated with HCV-HCM (* P0.05), whereas none of DPB1 allele demonstrated significant association with HCV-DCMShichi D, Matsumori A, et al. Int J Immunogenet 2021;35:37-43 DPB1alleleHCV-HCM(2

19、n=76)HCV-DCM(2n=42)Control(2n=264)*0201 0.145 0.143 0.205*03010.053 0.095 0.057*04010.079* 0.024 0.023*05010.368 0.381 0.413*06010.013 0.004*09010.184* 0.119 0.095Association with Polymorphic of DP-Chain in HCV-HCMShichi D, Matsumori A, et al. Int J Immunogenet 2021;35:37-43 PositionAmino acidresidu

20、eCases (n=38)+ -DP 8DP 9DP 11DP 36DP 55DP 57DP 76LeuPheGlyAlaAlaGluMetControls (n=132)+ -OR (95% CI)PPc 6 6 63131 6 6129129129 7 7129129 3 3 3125125 3 3323232 7 73232 0.12(0.03-0.52) 0.12(0.03-0.52) 0.12(0.03-0.52)4.03(1.32-12.35)4.03(1.32-12.35) 0.12(0.03-0.52) 0.12(0.03-0.52)0.0040.0040.0040.0170.

21、0170.0040.0040.0080.0120.0080.0340.0510.0080.012(Pockets)(6)(9)(6)(9)(9)(-)(4)The polymorphic residues from DPB1 alleles located in P9 pockets (at position 36A and 55A) showed positive associations with HCV-HCM. In contrast, five polymorphic residues showed significant negative associations: 76M in

22、P4 pockets; 8L and 11G in P6 pockets; 9F in P9 pockets and 57E adjacent to P9 pocket. Quite interestingly, all the residues showing significant positive or negative associations composed of DPB1*0401. The Susceptible Gene Mapping for HCV-DCM and HCMwith Microsatellite Markers throughout the HLA regi

23、onOdds RatioCorrected PSusceptibility to HCV-DCM was mapped at the locus spanning from NFKBlL1 to BAT1 loci within the HLA class III subregion. HCV-HCM was associated with DPB1 alleles.The candidate genes may encode molecules involved in the immunity and inflammation.Shichi D et alTissue Antigen2005

24、:66:200HCMDCMHLA and HCV Infection Our study provides new and suggestive information on the immunological involvement of DPB1 gene in the HCV-HCM development. The polymorphic amino acids residues by which the DP chain adopt specificity pocket appear to influence on disease-susceptibility at the alle

25、lic manner level. The existence of different risk alleles among HCV-related diseases including chronic liver disease, asymptomatic carrier and HCV- DCM suggests that each clinical outcome may arise from distinct pathogenic conditions on the basis of differential HLA-mediated immune responses.Etiolog

26、y of HCMHCMGeneticInflammatorySarcomereStorageVirusUnknownEtiology of DCMDCMGeneticInflammatorySarcomereStorageVirusUnknownEtiology of ARVC/DARVC/DGeneticInflammatoryVirusUnknownDefinition and Classifications of CardiomyopathiesEtiological ClassificationA.GeneticB.InfectiousC.NutritionalD.UnknownII. Anatomical (Structural) ClassificationA.Dilated a. LV b. RVB.Hypertrophica. Septum b. Diffuse c. Free wall d. ApexIII. Physiological (mechanical) ClassificationA. Systolic failure/dysfunctionB. Diastolic failure/dysfunctionC. BothD. Normal functionIV