Tabella 1: CardioScreen® - Prevenzione arresto cardiaco improvviso. Elenco dei geni analizzati e della malattie genetiche investigate DISEASE NAME 1 2 3 4 5 6 7 8 9 10 11 Atrial fibrillation, familial, 12 Sitosterolemia Sitosterolemia Myopathy, actin, congenital, with cores Aortic aneurysm, familial thoracic 6 Atrial septal defect 5 Cardiomyopathy, dilated, 1AA, with or without LVNC Long QT syndrome-‐11 Alstrom syndrome 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 PhenoMIM 614050 210250 210250 161800 611788 612794 612158 611820 203800 GENE ABCC9 ABCG5 ABCG8 ACTA1 ACTA2 ACTC1 ACTN2 AKAP9 ALMS1 ANK2 ANKRD1 Cardiac arrhythmia, ankyrin-‐B-‐related 600919 Cardiomyopathy, hypertrophic/Cardiomyopathy, dilated 609599 Hyperchylomicronemia, late-‐onset Hypercholesterolemia, due to ligand-‐defective apo B Hyperlipoproteinemia, type Ib Lipoprotein glomerulopathy Cardiomyopathy, dilated, 1HH Cardiofaciocutaneous syndrome Brugada syndrome 3 Brugada syndrome 4 Long QT syndrome 14 Ventricular tachycardia, catecholaminergic polymorphic, 4 Cardiomyopathy, hypertrophic, 19 Ventricular tachycardia, catecholaminergic polymorphic, 2 Cardiomyopathy, familial hypertrophic Long QT syndrome 9 Noonan syndrome-‐like disorder with or without juvenile myelomonocytic leukemia Homocystinuria, B6-‐responsive and nonresponsive types Hyperalphalipoproteinemia Ehlers-‐Danlos syndrome, type III Ehlers-‐Danlos syndrome, classic type Ehlers-‐Danlos syndrome, classic type Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 144650 144010 207750 611771 613881 115150 611875 611876 616247 614916 613875 611938 192600 611818 APOA5 APOB APOC2 APOE BAG3 BRAF CACNA1C CACNB2 CALM1 613563 CBL 236200 143470 130020 130000 130000 CBS CETP COL3A1 COL5A1 COL5A2 615119 COX15 CALR3 CASQ2 CAV3 Pag. 1 di 5 30 31 32 33 34 Cardiomyopathy, dilated, 1I 604765 CRELD1 CRYAB CSRP3 CTF1 DES 35 36 37 38 39 40 41 302045 610198 610768 612956 610476 610193 607450 DMD DNAJC19 DOLK DPP6 DSC2 DSG2 DSP 604169 DTNA 614437 185500 310300 605362 154700 121050 300696 602633 EFEMP2 ELN EMD EYA4 FBN1 FBN2 FHL1 FHL2 42 Atrioventricular septal defect, partial, with heterotaxy syndrome Cardiomyopathy, dilated, 1II Cardiomyopathy, dilated, 1M Cardiomyopathy, dilated Cardiomyopathy, dilated, 3B 3-‐methylglutaconic aciduria, type V Congenital disorder of glycosylation, type Im Ventricular fibrillation, paroxysmal familial, 2 Arrhythmogenic right ventricular dysplasia 11 Arrhythmogenic right ventricular dysplasia 10 Arrhythmogenic right ventricular dysplasia 8 Left ventricular noncompaction 1, with or without congenital heart defects Cutis laxa, autosomal recessive, type IB Supravalvar aortic stenosis Emery-‐Dreifuss muscular dystrophy 1, X-‐linked Cardiomyopathy, dilated, 1J Marfan syndrome Contractural arachnodactyly, congenital Emery-‐Dreifuss muscular dystrophy 6, X-‐linked 43 44 45 46 47 48 49 50 Cardiomyopathy, dilated 606217 615184 607482 600435 51 Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 FKRP 52 53 54 55 56 57 58 59 60 61 62 63 64 65 Cardiomyopathy, dilated, 1X Friedreich ataxia Glycogen storage disease II Cardiomyopathy, dilated, 2B Fasting plasma glucose level QTL 5 Atrial fibrillation, familial, 11 Fabry disease, cardiac variant Pseudohypoparathyroidism Brugada syndrome 2 Hyperlipoproteinemia, type 1D LCHAD deficiency Brugada syndrome 8 Hemochromatosis Congenital myopathy with excess of muscle spindles 611615 229300 232300 614672 613463 614049 301500 612463 611777 615947 609016 613123 235200 218040 FKTN FXN GAA GATAD1 GCKR GJA5 GLA GNAS GPD1L GPIHBP1 HADHA HCN4 HFE HRAS Pag. 2 di 5 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 Neuropathy, distal hereditary motor, type IIA Alagille syndrome Cardiomyopathy, hypertrophic, 17 Arrhythmogenic right ventricular dysplasia 12 Atrial fibrillation, familial, 7 Brugada syndrome 9 Long QT syndrome 5 Long QT syndrome 6 Brugada syndrome 6 Long QT syndrome 2 Short QT syndrome 1 Long QT syndrome 2, acquired, susceptibility to Atrial fibrillation, familial, 9 Long QT syndrome 13 Atrial fibrillation, familial, 3 Long QT syndrome 1 Short QT syndrome 2 Cardiofaciocutaneous syndrome 2 Muscular dystrophy, congenital merosin-‐deficient Cardiomyopathy, dilated, 1JJ Danon disease Cardiomyopathy, dilated, 1C, with or without LVNC Cardiomyopathy, hypertrophic, 24 Left ventricular noncompaction 3 Hypercholesterolemia, familial Hypercholesterolemia, familial, autosomal recessive Lipase deficiency, combined Cardiomyopathy, dilated, 1A Combined hyperlipidemia, familial Weill-‐Marchesani syndrome 3, recessive Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous syndrome 4 Left ventricular noncompaction 7 Cardiomyopathy, dilated, 1MM Aortic aneurysm, familial thoracic 4 Atrial septal defect 3 Cardiomyopathy, dilated, 1S Cardiomyopathy, hypertrophic, 10 Cardiomyopathy, hypertrophic, 8 158590 118450 613873 611528 612240 616399 613695 613693 613119 613688 609620 613688 613980 613485 607554 609621 192500 615278 607855 615235 300257 601493 601493 601493 143890 603813 246650 115200 144250 614819 615279 615280 615092 615396 132900 614089 613426 608758 608751 HSPB8 JAG1 JPH2 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5 KCNQ1 KRAS LAMA2 LAMA4 LAMP2 LDB3 LDLR LDLRAP1 LMF1 LMNA LPL LTBP2 MAP2K1 MAP2K2 MIB1 MYBPC3 MYH11 MYH6 MYH7 MYL2 MYL3 Pag. 3 di 5 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 Aortic aneurysm, familial thoracic 7 Cardiomyopathy, hypertrophic, 1, digenic Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Cardiomyopathy, hypertrophic, 16 Cardiomyopathy, dilated, 1KK Cardiomyopathy, dilated, 1CC Atrial septal defect 7, with or without AV conduction defects Heterotaxy, visceral, 5 Aortic valve disease 1 Atrial fibrillation, familial, 6 Autoimmune lymphoproliferative syndrome type IV Hypercholesterolemia, familial, 3 Arrhythmogenic right ventricular dysplasia 9 Cardiomyopathy, dilated, 1P Cardiomyopathy, dilated, 1LL Cardiomyopathy, hypertrophic 6 Myxoma, intracardiac LEOPARD syndrome 1 Cardiomyopathy, dilated, 1NN Cardiomyopathy, dilated, 1DD Central core disease Arrhythmogenic right ventricular dysplasia 2 IVIC syndrome Atrial fibrillation, familial, 13 Brugada syndrome 5 Cardiac conduction defect, nonspecific Atrial fibrillation, familial, 14 Atrial fibrillation, familial, 16 Atrial fibrillation, familial, 17 Atrial fibrillation, familial, 10 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Cardiomyopathy, dilated, 1GG Myopathy, congenital, with fiber-‐type disproportion Muscular dystrophy, limb-‐girdle, type 2E Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-‐girdle, type 2C Noonan-‐like syndrome with loose anagen hair Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) 613780 192600 606346 613838 615248 613122 108900 270100 109730 612201 614470 603776 609040 609909 615373 600858 255960 151100 615916 613172 117000 600996 147750 615377 612838 612838 615378 613120 611819 614022 MYLK MYLK2 MYO6 MYOZ2 MYPN NEXN NKX2-‐5 NODAL NOTCH1 NPPA NRAS PCSK9 PKP2 PLN PRDM16 PRKAG2 PRKAR1A PTPN11 RAF1 RBM20 RYR1 RYR2 SALL4 SCN1B 604377 SCO2 613642 255310 604286 606685 253700 607721 615418 SDHA SEPN1 SGCB SGCD SGCG SHOC2 SLC25A4 SCN2B SCN3B SCN4B SCN5A Pag. 4 di 5 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 Arterial tortuosity syndrome Loeys-‐Dietz syndrome, type 3 Myhre syndrome Long QT syndrome 12 Noonan syndrome 4 Barth syndrome Atrial septal defect 4 Ulnar-‐mammary syndrome Holt-‐Oram syndrome Cardiomyopathy, hypertrophic, 25 Loeys-‐Dietz syndrome, type 4 Arrhythmogenic right ventricular dysplasia 1 Loeys-‐Dietz syndrome, type 1 Loeys-‐Dietz syndrome, type 2 Arrhythmogenic right ventricular dysplasia 5 Cardiomyopathy, dilated, 1T Cardiomyopathy, dilated, 1Z Cardiomyopathy, dilated, 1FF Cardiomyopathy, dilated, 1D Cardiomyopathy, dilated, 1Y Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Progressive familial heart block, type IB Cardiomyopathy, dilated, 1G Amyloidosis, hereditary, transthyretin-‐related Cardiomyopathy, dilated, 1W Cardiomyopathy, hypertrophic, 15 Congenital heart defects, nonsyndromic, 1, X-‐linked 208050 613795 139210 612955 610733 302060 611363 181450 142900 607487 614816 107970 609192 610168 604400 613740 611879 613286 601494 611878 SLC2A10 SMAD3 SMAD4 SNTA1 SOS1 TAZ TBX20 TBX3 TBX5 TCAP TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 615441 TRDN 604559 604145 105210 611407 613255 306955 TRPM4 TTN TTR VCL ZIC3 Pag. 5 di 5
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