Panel de precisión de miocardiopatía
Las miocardiopatías son un grupo de afecciones con un fuerte trasfondo genético que dificultan estructuralmente que el corazón bombee sangre al resto del cuerpo debido a la debilidad de los músculos del corazón.

La utilidad clínica de este panel es:
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
AARS2 |
Combined Oxidative |
AR |
100 |
54 OF 54 |
ABCC9 |
Familial Atrial Fibrillation, |
AD |
100 |
51 OF 51 |
ACAD9 |
Acyl-CoAa Dehydrogenase Deficiency |
AR |
100 |
62 OF 62 |
ACADVL |
Acyl-CoA Dehydrogenase Deficiency, |
AR |
100 |
329 OF 329 |
ACTA1 |
Congenital Myopathy With |
AD,AR |
100 |
224 OF 224 |
ACTC1 |
Atrial Septal Defect, |
AD |
99.93 |
72 OF 74 |
ACTN2 |
Dilated Cardiomyopathy |
AD |
100 |
56 OF 56 |
AGL |
Glycogen Storage Disease III |
AR |
100 |
253 OF 253 |
ALMS1 |
Alstrom Syndrome |
AR |
99.92 |
302 OF 305 |
ALPK3 |
Familial Hypertrophic Cardiomyopathy |
AR |
97.29 |
7 OF 7 |
ANO5 |
Miyoshi Muscular Dystrophy, |
AD,AR |
99.78 |
171 OF 173 |
APOA1 |
Familial Visceral Amyloidosis, |
AD |
99.89 |
68 OF 70 |
ATP6 |
Leber Optic Atrophy , Neuropathy, |
MI |
NA |
NA |
ATP8 |
Kearns-Sayre Syndrome |
|
98.02 |
NA OF NA |
BAG3 |
Dilated Cardiomyopathy |
AD |
100 |
83 OF 85 |
BRAF |
Cardiofaciocutaneous Syndrome, |
AD |
100 |
80 OF 80 |
CACNA1C |
Brugada Syndrome, Timothy Syndrome, |
AD |
99.8 |
85 OF 85 |
CALR3 |
Hypertrophic Cardiomyopathy, |
|
100 |
5 OF 5 |
CAPN3 |
Limb-Girdle Muscular Dystrophy |
AD,AR |
100 |
503 OF 505 |
CASQ2 |
Catecholaminergic Polymorphic |
AD,AR |
100 |
39 OF 40 |
CBL |
Noonan Syndrome |
AD |
100 |
46 OF 47 |
CDH2 |
Familial Arrhythmogenic Right |
AD |
99.98 |
16 OF 16 |
CHRM2 |
Dilated Cardiomyopathy |
|
99.98 |
1 OF 1 |
COX15 |
Fatal Infantile Cardioencephalomyopathy, |
AR,MI |
100 |
5 OF 5 |
COX3 |
Leber Optic Atrophy , |
MI |
NA |
NA |
CPT2 |
Carnitine Palmitoyltransferase |
AD,AR |
99.99 |
116 OF 116 |
CRPPA |
Muscular Dystrophy- |
AR |
97.69 |
NA OF NA |
CRYAB |
Dilated Cardiomyopathy |
AD,AR |
100 |
30 OF 30 |
CSRP3 |
Dilated Cardiomyopathy, |
AD |
100 |
36 OF 36 |
CTNNA3 |
Familial Arrhythmogenic Right |
AD |
99.97 |
14 OF 17 |
CYTB |
Histiocytoid Cardiomyopathy |
MI |
98.8 |
NA OF NA |
DBH |
Dopamine Beta-Hydroxylase |
AR |
100 |
11 OF 11 |
DES |
Dilated Cardiomyopathy |
AD,AR |
99.97 |
133 OF 134 |
DMD |
Dilated Cardiomyopathy |
X,XR,G |
99.96 |
NA OF NA |
DNAJC19 |
Dilated Cardiomyopathy With Ataxia |
AR |
100 |
6 OF 6 |
DOLK |
Familial Isolated Dilated |
AR |
99.98 |
13 OF 13 |
DPM3 |
Congenital Disorder Of Glycosylation |
AR |
100 |
4 OF 4 |
DSC2 |
Familial Arrhythmogenic Right |
AD,AR |
100 |
123 OF 124 |
DSG2 |
Familial Arrhythmogenic Right |
AD |
99.38 |
167 OF 169 |
DSP |
Familial Arrhythmogenic Right |
AD,AR |
99.91 |
366 OF 369 |
DTNA |
Left Ventricular Noncompaction |
AD |
97 |
10 OF 10 |
DYSF |
Miyoshi Myopathy, Limb-Girdle |
AR |
100 |
604 OF 606 |
EEF1A2 |
Early Infantile |
AD |
100 |
14 OF 14 |
ELAC2 |
Combined Oxidative |
AR |
100 |
32 OF 32 |
EMD |
X-linked Emery-Dreifuss Muscular Dystrophy |
X,XR,G |
99.92 |
NA OF NA |
EPG5 |
Immunodeficiency With |
AR |
98.98 |
73 OF 73 |
ETFA |
Multiple Acyl-CoA Dehydrogenase |
AR |
92.33 |
32 OF 32 |
ETFB |
Multiple Acyl-CoA Dehydrogenase |
AR |
100 |
21 OF 21 |
ETFDH |
Multiple Acyl-CoA Dehydrogenase |
AR |
100 |
221 OF 222 |
EYA4 |
Dilated Cardiomyopathy |
AD |
100 |
32 OF 32 |
FBXL4 |
Mitochondrial DNA |
AR |
99.26 |
46 OF 51 |
FBXO32 |
Dilated Cardiomyopathy |
|
100 |
2 OF 2 |
FHL1 |
Reducing Body Myopathy, |
X,XR,XD,G |
99.98 |
NA OF NA |
FHOD3 |
Hypertrophic Cardiomyopathy |
|
99.95 |
35 OF 35 |
FKRP |
Muscular Dystrophy- |
AR |
99.9 |
157 OF 157 |
FKTN |
Dilated Cardiomyopathy, |
AR |
98 |
54 OF 56 |
FLNC |
Familial Hypertrophic Cardiomyopathy, |
AD |
100 |
185 OF 186 |
FOXRED1 |
Mitochondrial Complex I Deficiency, |
AR |
100 |
13 OF 13 |
GAA |
Glycogen Storage Disease II |
AR |
100 |
623 OF 624 |
GATA6 |
Atrial Septal Defect, |
AD,AR |
84.19 |
66 OF 84 |
GATAD1 |
Dilated Cardiomyopathy |
AR |
88.2 |
1 OF 1 |
GBE1 |
Glycogen Storage Disease IV, |
AR |
99.95 |
71 OF 74 |
GFM1 |
Combined Oxidative |
AR |
100 |
27 OF 27 |
GLA |
Fabry Disease |
X,XR,G |
98 |
NA OF NA |
GLB1 |
GM1-Gangliosidosis, |
AR |
100 |
242 OF 243 |
GMPPB |
Muscular Dystrophy-Dystroglycanopathy |
AR |
99.95 |
53 OF 53 |
GSK3B |
Usher Syndrome, Alzheimer Disease |
|
99.91 |
1 OF 1 |
GTPBP3 |
Combined Oxidative |
AR |
99.94 |
17 OF 17 |
HADHA |
Long-Chain 3-hydroxyacyl-CoA |
AR |
100 |
75 OF 75 |
HAND1 |
Hypoplastic Left Heart Syndrome |
|
99.89 |
9 OF 9 |
HCN4 |
Brugada Syndrome |
AD |
98.01 |
40 OF 41 |
HFE |
Alzheimer Disease, |
AD,AR |
100 |
55 OF 57 |
HRAS |
Costello Syndrome, |
AD |
100 |
34 OF 34 |
IDUA |
Hurler Syndrome, |
AR |
99.73 |
287 OF 292 |
ILK |
Dilated Cardiomyopathy |
|
100 |
14 OF 14 |
JPH2 |
Familial Hypertrophic Cardiomyopathy |
AD |
98.24 |
17 OF 17 |
JUP |
Familial Arrhythmogenic Right |
AD,AR |
100 |
56 OF 56 |
KLHL24 |
Epidermolysis Bullosa Simplex, Generalized, |
AD |
99.96 |
8 OF 8 |
KRAS |
Cardiofaciocutaneous Syndrome, |
AD |
100 |
38 OF 38 |
LAMA2 |
Congenital Merosin-Deficient |
AR |
100 |
363 OF 377 |
LAMP2 |
Danon Disease , Glycogen |
X,XD,G |
99.96 |
NA OF NA |
LARGE1 |
Muscular Dystrophy-Dystroglycanopathy |
AR |
100 |
NA OF NA |
LDB3 |
Dilated Cardiomyopathy, |
AD |
100 |
60 OF 60 |
LEMD2 |
Congenital Cataract, Juvenile |
AR |
93.48 |
3 OF 3 |
LMNA |
Dilated Cardiomyopathy, |
AD,AR |
100 |
619 OF 620 |
LMOD2 |
Familial Hypertrophic Cardiomyopathy |
|
99.37 |
1 OF 1 |
LRRC10 |
Dilated Cardiomyopathy |
|
100 |
5 OF 5 |
LZTR1 |
Noonan Syndrome |
AD |
99.99 |
136 OF 136 |
MAP2K1 |
Cardiofaciocutaneous Syndrome, |
AD |
100 |
31 OF 31 |
MAP2K2 |
Cardiofaciocutaneous Syndrome, |
AD |
100 |
37 OF 37 |
MAP3K8 |
Lung Cancer, Rheumatoid Arthritis |
AD |
99.91 |
1 OF 1 |
MLYCD |
Malonyl-CoA Decarboxylase Deficiency |
AR |
93.84 |
32 OF 40 |
MRAS |
Noonan Syndrome |
AD |
100 |
3 OF 3 |
MT-CO1 |
Mitochondrial Complex IV Deficiency |
|
97.64 |
NA OF NA |
MT-CO2 |
Mitochondrial Complex IV Deficiency |
|
99.19 |
NA OF NA |
MT-ND1 |
Mitochondrial Myopathy |
|
98.8 |
NA OF NA |
MTO1 |
Combined Oxidative |
AR |
99.83 |
31 OF 31 |
MYBPC3 |
Familial Hypertrophic Cardiomyopathy, |
AD,AR |
99.95 |
1072 OF 1079 |
MYBPHL |
Dilated Cardiomyopathy |
|
100 |
3 OF 3 |
MYH6 |
Atrial Septal Defect, |
AD |
99.94 |
140 OF 142 |
MYH7 |
Dilated Cardiomyopathy, |
AD,AR |
99.95 |
1053 OF 1054 |
MYL2 |
Familial Hypertrophic Cardiomyopathy, |
AD |
100 |
67 OF 67 |
MYL3 |
Familial Hypertrophic Cardiomyopathy |
AD,AR |
100 |
42 OF 42 |
MYL4 |
Familial Atrial Fibrillation |
AD |
100 |
2 OF 2 |
MYLK3 |
Hypoplastic Right Heart Syndrome, |
|
99.83 |
3 OF 3 |
MYOT |
Myopathy Spheroid Body Myotilinopathy, |
AD |
100 |
17 OF 17 |
MYPN |
Dilated Cardiomyopathy, |
AD,AR |
99.94 |
49 OF 49 |
MYRF |
Cardiac-Urogenital Syndrome |
AD |
99.83 |
27 OF 27 |
ND2 |
Leber Optic Atrophy , |
MI |
85.56 |
NA OF NA |
ND3 |
Isolated Complex I Deficiency, |
|
99.99 |
NA OF NA |
ND4 |
Leber Optic Atrophy, |
MI |
NA |
NA |
ND4L |
Leber Optic Atrophy, |
MI |
99.83 |
NA OF NA |
ND5 |
Leber Optic Atrophy, |
MI |
99.89 |
NA OF NA |
ND6 |
Leber Optic Atrophy , |
MI |
100 |
NA OF NA |
NDUFAF2 |
Mitochondrial Complex I Deficiency, |
AR |
99.39 |
6 OF 6 |
NEXN |
Dilated Cardiomyopathy, |
AD |
99.7 |
44 OF 45 |
NF1 |
Neurofibromatosis-Noonan |
AD |
97.97 |
3082 OF 3166 |
NKX2-5 |
Atrial Septal Defect With Or |
AD,AR |
99.98 |
112 OF 116 |
NONO |
Macrocephaly-Intellectual |
X,XR,G |
99.59 |
NA OF NA |
NRAP |
Myofibrillar Myopathy, |
|
99.98 |
7 OF 7 |
NRAS |
Noonan Syndrome, |
AD |
100 |
15 OF 15 |
PCCA |
Propionic Acidemia |
AR |
100 |
137 OF 137 |
PCCB |
Propionic Acidemia |
AR |
99.95 |
136 OF 138 |
PKP2 |
Familial Arrhythmogenic Right |
AD |
100 |
306 OF 307 |
PLEC |
Epidermolysis Bullosa Simplex With |
AD,AR |
99.98 |
113 OF 113 |
PLEKHM2 |
Leukodystrophy and Acquired |
|
99.94 |
1 OF 1 |
PLN |
Dilated Cardiomyopathy, |
AD |
100 |
26 OF 33 |
PNPLA2 |
Neutral Lipid Storage |
AR |
100 |
53 OF 53 |
PPA2 |
Sudden Cardiac Failure, |
AR |
99.95 |
9 OF 9 |
PPCS |
Dilated Cardiomyopathy |
AR |
98.95 |
4 OF 4 |
PPP1CB |
Noonan Syndrome-Like Disorder |
AD |
99.87 |
12 OF 12 |
PRDM16 |
Left Ventricular Noncompaction, |
AD |
98.81 |
20 OF 20 |
PRKAG2 |
Familial Hypertrophic Cardiomyopathy, |
AD |
99.98 |
61 OF 61 |
PTPN11 |
Leopard Syndrome, |
AD |
100 |
150 OF 151 |
QRSL1 |
Combined Oxidative Phosphorylation |
AR |
99.91 |
6 OF 7 |
RAF1 |
Dilated Cardiomyopathy, |
AD |
100 |
64 OF 64 |
RASA1 |
Capillary Malformation-Arteriovenous |
AD |
99.56 |
169 OF 169 |
RASA2 |
Noonan Syndrome |
|
99.82 |
5 OF 5 |
RBCK1 |
Polyglucosan Body Myopathy, |
AR |
100 |
13 OF 13 |
RBM20 |
Dilated Cardiomyopathy |
AD |
96.83 |
73 OF 75 |
RIT1 |
Noonan Syndrome 8 |
AD |
99.85 |
27 OF 27 |
RRAS |
Noonan Syndrome |
|
95.86 |
3 OF 3 |
RYR2 |
Familial Arrhythmogenic Right |
AD |
99.2 |
466 OF 472 |
SCN5A |
Familal Atrial Fibrillation, |
AD,AR,MU |
99.45 |
929 OF 942 |
SCNN1B |
Bronchiectasis, Liddle Syndrome, |
AD,AR |
100 |
56 OF 56 |
SCNN1G |
Bronchiectasis With Or Without |
AD,AR |
100 |
28 OF 28 |
SCO1 |
Mitochondrial Complex IV Deficiency |
AR,MI |
100 |
6 OF 6 |
SCO2 |
Fatal Infantile |
AD,AR |
100 |
38 OF 38 |
SDHA |
Dilated Cardiomyopathy, |
AD,AR,MI |
99.98 |
103 OF 103 |
SGCA |
Limb-Girdle Muscular Dystrophy, |
AR |
100 |
119 OF 119 |
SGCB |
Limb-Girdle Muscular Dystrophy, |
AR |
98.36 |
55 OF 65 |
SGCD |
Dilated Cardiomyopathy, |
AD,AR |
99.89 |
31 OF 32 |
SGCG |
Limb-Girdle Muscular Dystrophy, |
AR |
100 |
53 OF 55 |
SHOC2 |
Noonan Syndrome-Like Disorder |
AD |
99.98 |
8 OF 8 |
SLC22A5 |
Systemic Primary Carnitine |
AR |
100 |
161 OF 162 |
SLC25A20 |
Carnitine-Acylcarnitine Translocase Deficiency |
AR |
100 |
39 OF 39 |
SLC25A4 |
Mitochondrial DNA Depletion |
AD,AR |
99.84 |
16 OF 16 |
SMCHD1 |
Bosma Arhinia Microphthalmia |
AD,MU,D |
99.64 |
131 OF 137 |
SOS1 |
Noonan Syndrome, |
AD |
100 |
103 OF 104 |
SOS2 |
Noonan Syndrome |
AD |
99.48 |
6 OF 7 |
SPEG |
Centronuclear Myopathy |
AR |
99.26 |
17 OF 17 |
SPRED1 |
Legius Syndrome |
AD |
100 |
84 OF 84 |
TAB2 |
Congenital Heart Defects, |
AD |
99 |
13 OF 13 |
TAZ |
Barth Syndrome, Familial |
X,XR,G |
100 |
NA OF NA |
TBX20 |
Atrial Septal Defect |
AD |
99.98 |
33 OF 34 |
TBX5 |
Holt-Oram Syndrome |
AD |
100 |
143 OF 152 |
TCAP |
Familial Hypertrophic Cardiomyopathy, |
AD,AR |
100 |
33 OF 33 |
TGFB3 |
Familial Arrhythmogenic |
AD |
100 |
34 OF 35 |
TMEM43 |
Familial Arrhythmogenic |
AD |
99.98 |
26 OF 26 |
TMEM70 |
Mitochondrial Complex V |
AR |
100 |
22 OF 24 |
TNNC1 |
Dilated Cardiomyopathy, |
AD |
100 |
28 OF 28 |
TNNI3 |
Dilated Cardiomyopathy, |
AD,AR |
100 |
139 OF 139 |
TNNI3K |
Cardiac Conduction Disease |
AD |
99.97 |
4 OF 4 |
TNNT2 |
Dilated Cardiomyopathy, |
AD |
100 |
169 OF 169 |
TOR1AIP1 |
Limb-Girdle Muscular Dystrophy |
AR |
97.5 |
5 OF 6 |
TPM1 |
Dilated Cardiomyopathy, |
AD |
100 |
108 OF 108 |
TRIM32 |
Bardet-Biedl Syndrome, |
AR |
100 |
17 OF 17 |
TRNC |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNE |
Mitochondrial Myopathy |
|
NA |
NA |
TRNF |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNH |
MELAS, MERRF |
|
NA |
NA |
TRNI |
Myoclonic Epilepsy Associated |
MI |
NA |
NA |
TRNK |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNL1 |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNL2 |
Mitochondrial DNA-Related |
|
NA |
NA |
TRNN |
Mitochondrial Complex IV Deficiency, |
AR,MI |
NA |
NA |
TRNQ |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNS1 |
Mitochondrial Complex IV Deficiency , |
AR,MI |
NA |
NA |
TRNS2 |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNT |
Lethal Infantile Mitochondrial |
MI |
NA |
NA |
TRNV |
Mitochondrial Myopathy, |
MI |
NA |
NA |
TRNW |
Mitochondrial Myopathy, |
AR,MI |
NA |
NA |
TTN |
Dilated Cardiomyopathy, |
AD,AR |
97.93 |
1153 OF 1219 |
TTR |
Amyloidosis VII, Carpal Tunnel Syndrome |
AD |
100 |
195 OF 196 |
VCL |
Dilated Cardiomyopathy, |
AD |
99.99 |
36 OF 37 |
VCP |
Amyotrophic Lateral Sclerosis With |
AD |
100 |
68 OF 69 |
VPS13A |
Choreoacanthocytosis |
AR |
99.37 |
120 OF 122 |
XK |
Mcleod Syndrome |
X,G |
99.97 |
NA OF NA |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol 2019;March 17
Burke, M. A., Cook, S. A., Seidman, J. G., & Seidman, C. E. (2016). Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. Journal of the American College of Cardiology, 68(25), 2871–2886. https://doi.org/10.1016/j.jacc.2016.08.079
Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M., Vatta, M., Ware, S. M., & ACMG Professional Practice and Guidelines Committee (2018). Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 20(9), 899–909. https://doi.org/10.1038/s41436-018-0039-z
Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M., Vatta, M., & Ware, S. M. (2018). Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. Journal of cardiac failure, 24(5), 281–302. https://doi.org/10.1016/j.cardfail.2018.03.004
Corrado, D., Basso, C., & Judge, D. P. (2017). Arrhythmogenic Cardiomyopathy. Circulation research, 121(7), 784–802. https://doi.org/10.1161/CIRCRESAHA.117.309345
Correction to: 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. (2020). Circulation, 142(25). doi: 10.1161/cir.0000000000000945
McKenna, W. J., Maron, B. J., & Thiene, G. (2017). Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circulation research, 121(7), 722–730. https://doi.org/10.1161/CIRCRESAHA.117.309711