Hipertrófiás kardiomiopátia
Hipertrófiás kardiomiopátia (125 gén)
Hipertrófiás kardiomiopátia (125 gén)
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, APOA1, ATAD3A, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CBL, COA5, COX15, CPT2, CRYAB, CSRP3, DES, ELAC2, EPG5, FBXL4, FHL1, FHOD3, FLNC, FOXRED1, FXN, GAA, GLA, GLB1, GSK3B, GUSB, GYG1, HRAS, JPH2, KCNQ1, KLF10, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIPEP, MRPL3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NRAS, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RIT1, SCO2, SHOC2, SLC25A3, SLC25A4, SOS1, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63,TSFM, TTN, TTR, VCL
A hipertrófiás kardiomiopátia (Hyperthrophic Cardiomyopathy - HCM) egy genetikai eredetű szívbetegség, amelyre a szívizom megvastagodása jellemző, különösen az intraventrikuláris septumban (a két kamra közötti falban) következik be. Ez a megvastagodás akadályozhatja a szív normális működését, különösen a vér kiáramlását a bal kamrából.
Kiváltó okok:
A betegség kialakulásához általában domináns autoszómális öröklődést mutató genetikai mutációk vezetnek.
BETEGSÉGCSOPORTHOZ TARTOZÓ PANELEK
Kardiomiopátia - teljes panel (202 gén)
ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, ATAD3A, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHKB, CHRM2, COA5, COX15, CPT2, CRYAB, CTNNA3, CSRP3, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA, FBXL4, FBXO32, FHL1, FHOD3, FKRP, FKTN, FLII, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GATC, GBE1, GLA, GLB1, GSK3B, GUSB, GYG1, HAND1, HCN4, HRAS, ILK, JPH2, JUP, KCNQ1, KLF10, KLHL24, KRAS, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MIB1, MIPEP, MLYCD, MRPL3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NKX2-5, NRAP, NRAS, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAF1, RBCK1, RBM20, RHBDF1, RIT1, RMND1, RPL3L, RYR2, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC6A6, SOS1, SPEG, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TSFM, TTN, TTR, VCL, VPS13A
Hipertrófiás kardiomiopátia (125 gén)
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, APOA1, ATAD3A, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CBL, COA5, COX15, CPT2, CRYAB, CSRP3, DES, ELAC2, EPG5, FBXL4, FHL1, FHOD3, FLNC, FOXRED1, FXN, GAA, GLA, GLB1, GSK3B, GUSB, GYG1, HRAS, JPH2, KCNQ1, KLF10, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIPEP, MRPL3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NRAS, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RIT1, SCO2, SHOC2, SLC25A3, SLC25A4, SOS1, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63,TSFM, TTN, TTR, VCL
Szívritmuszavar
(pitvarfibrilláció, kamrai tachycardia, Brugada-szindróma) (89 gén)
ABCC9, ABCB4, AKAP9, ALG10, ALG10B, ANK2, BAG3, CACNA1C, CACNA1D, CACNA2D1, CACNA2D4, CACNB2, CALM1, CALM2, CALM3, CAV3, CASQ2, CDH2, CTNNA3, DBH, DES, DLG1, DSC2, DSG2, DSP, FLNC, GATA6, GJA1, GJA5, GNB5, GPD1L, HADHA, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ5, KCNJ2, KCNJ8, KCNQ1, LDB3, LEMD2, LMNA, LRP5, MYH6, MYH7, NPPA, NKX2-5, NOS1AP, NUP155, PLN, PKP2, PPA2, PRKAG2, RANGRF, RBM20, RYR2, SALL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SCNN1B, SCNN1G, SLC12A3, SLC22A5, SLC4A3, SLMAP, SNTA1, TANGO2, TECRL, TBX5, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN
Rövid QT, hosszú QT szindróma (45 gén)
ABCC9, AKAP9, ALG10, ALG10B, ANK2, CACNA1C, CACNA1B, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, DLG1, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LRP5, NOS1AP, PKP2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN10A, SCN5A, , SCN4B, SCN5A, SLC22A5, SLC4A3, SLC12A3, SLMAP, SNTA1,TECRL, TRDN, TRPM4
Aritmogén jobb kamrai kardiomiopátia (24 gén)
ANK2, BAG3, CAVIN4, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LEMD2, LMNA, MYH7, NKX2-5, PKP2, PLN, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TTN
Dilatatív kardiomiopátia (144 gén)
ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, BAG3, CASZ1, CDH2, CHKB, CHRM2, CRYAB, CSRP3, CPT2, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA, FBXO32, FHOD3, FKRP, FKTN, FLII, FLNC, FOXD4, GATAD1, GATA4, GATA6, GATC, GBE1, GLB1, GSK3B, HAND1, HCN4, ILK, JPH2, JUP, KLHL24, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL4, MYLK3, MYPN, NEXN, NKX2-5, NRAP, PCCA, PCCB, PKP2, PLEKHM2, PLN, PPCS, PRDM16, QRSL1, RAF1, RBCK1, RBM20, RHBDF1, RMND1,RPL3L, RYR2, SCN5A, SGCD, SLC6A6, SLC22A5, SPEG, TAB2, TAZ, TBX20, TBX5, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TTN, TTR, VCL, VPS13A
Bal kamrai nem kompakciós kardiomiopátia (42 gén)
ABCC9, ACTC1, BAG3, CASQ2, CTNNA3, DES, DMD, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, FBXO32, FLNC, HCN4, JPH2, JUP, LAMP2, LDB3, LMNA, MIB1, MIPEP, MYBPC3, MYH6, MYH7, PKP2, PLEKHM2, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, SDHA, TAZ, TCAP, TNNI3, TNNT2, TPM1, TTN, VCL