心肌病的分类（英文）课件幻灯

The 4th China-Japan Cardiovascular Forum New Classifications of CardiomyopathiesAkira Matsumori, MD, PhD, FACC, FAHA, FESCPresident, International Society of Cardiomyopathies and Heart FailureSecretary, World Heart FederationChairman, Scientific Advisory Board 113:1807-1816Ion Channel DisordersLQTS Brugada SQTSCPVT Asian SUNDS*Predominantly nongeneticPRKAG2DanonGlycogenStorageSecondary CardiomyopathiesInfiltrativeStorageToxicityEndomyocardialInflammatory (granulomatous)EndocrineCardiofacialNeuromuscular/ neurologicalNutritional deficiencyAutoimmune/ collagenElectrolyte imbalanceConsequence of Cancer therapyCirculation 2006; 113:1807-1816Gene Mutations Associated with Multiple Phenotypes of Cardiomyopathies-Myosin heavy chainCardiac troponin T-TropomyosinCardiac myosin bindingProtein CCardiac troponin I ActinTitinDesminMuscle LIM proteinTelethoninDesmoplakinPlakoglobinGene PhenotypesHCMDCMRCMARVC/DSarcomere proteinsZ-disc proteinDesmosome proteinIntermediate filamentsHypertrophic CardiomyopathyAbout 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: Fabrys diseaseInflammatory: Sarcoidosis HCV cardiomyopathyCoxsackie B virusAdenovirusHepatitis C virusDilated CardiomyopathyMyocarditis Viral Infection and Phenotypes of CardiomyopathiesCirculation 1995; 92: 2519-2525Biochem Biophys Res Commun 1996; 222: 678-682Lab Inv. 2000; 80: 1137-1142Hypertrophic CardiomyopathyViral Infection of the HeartDiffuseCHF/DCMSystolic HFRegionalAneurysmSubendocardialRCMDiastolic HFARVC/DLV AneurysmRandomHypertrophy/HCMVirusReceptorMyocyteFibroblastCompleterecoveryDiffusehypokinesisRegionalabnormalitySubendocardiallesionsIncreasedwall thicknessUnclassifiedabnormalityViral MyocarditisCHF/DCMSystolic HFHCMRCMARVC/DDiastolic HFHepatitis C Virus LV AneurysmARVCHCMDCMMyocarditisMatsumori A Circ Res 2005;96:144-147Hypertrophic Obstructive Cardiomyopathy Associated with HCV InfectionHE CoreA-2Immunohistochemical Staining of HCV Core Antigen in the Heart of a Patient with HCM Apical Hypertrophic Cardiomyopathy Associated 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 NephritisKidney HeartLiverAcute HepatitisChronic HepatitisLiver Cirrhosis MyocardialFibrosisDCMAcute MyocarditisChronicInflammationHepaticFailure HCC HCM85%20%6% 4%HCV Hepatitis HCV CardiomyopathiesAn Atypical Variant of Fabrys Disease in Men with Left Ventricular Hypertrophy. Nakao S et al NEJM 1995;333:288-293Fabrys disease is an X-linked recessive disorderthat results from a deficiency of -galactosidase.Seven of the 230 patients (3%) of HCM.Fabrys Disease Presented as HCMAlpha-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 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 Hypertrophic Cardiomyopathy as a Manifestation of Cardiac Sarcoidosis. Matsumori A et al Jpn Circ J 2000;64:679-683Six of 82 (7.3%) patients with sarcoidosis have echocardiographic abnormality.Four of 82(4.8%) showed phenotype of HCM.ASH: 2 cases, APH: 1 caseDepartment of Cardiovascular Medicine, Kyoto UniversityLV 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%RAOED ESMT 52 MDetection of HCV RNA in Heart Tissues from Patients with ARVCn Positive n FrequencyWHF Council 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 hypertrophic obstructive cardiomyopathyMatsumori A et al. Am Heart J. 1981;101:14-16. HLA in hypertrophic cardiomyopathy and rheumatic heart diseaseMatsumori A et al. Jpn Circ J 1979;43:445-449HL-A and Hypertrophic CardiomyopathyMatsumori A et al. Am Heart J 1979;97:428-431Frequencies of DPB1 Alleles 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 2008;35:37-43 DPB1alleleHCV-HCM(2n=76)HCV-DCM(2n=42)Control(2n=264)*0201 0.145 0.143 0.205*0301 0.053 0.095 0.057*0401 0.079* 0.024 0.023*0501 0.368 0.381 0.413*0601 0.013 0.004*0901 0.184* 0.119 0.095Association with Polymorphic of DP-Chain in HCV-HCMShichi D, Matsumori A, et al. Int J Immunogenet 2008;35:37-43 Position Amino acidresidue Cases (n=38)+ -DP 8DP 9DP 11DP 36DP 55DP 57DP 76LeuPheGlyAlaAlaGluMetControls (n=132)+ -OR (95% CI) P Pc66631316612912912977129129333125125333232327732320.12(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)0.0040.0040.0040.0170.0170.0040.0040.0080.0120.0080.0340.0510.0080.012(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