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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Tabella 1: CardioScreen® - Prevenzione arresto cardiaco