Diagnostico Genético > Cardiología > Panel de precisión de miocardiopatía

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.

Descripción general

Indicaciones

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

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. Estas enfermedades afectan a personas de todas las edades y pueden provocar insuficiencia cardíaca y muerte cardíaca súbita. Si hay antecedentes familiares de miocardiopatía, se recomienda encarecidamente someterse a pruebas genéticas para conocer el riesgo familiar, el riesgo personal y las opciones de tratamiento. La mayoría de los tipos de miocardiopatías se heredan de manera dominante, lo que significa que una copia alterada del gen es suficiente para que la enfermedad se presente en un individuo. Los síntomas de la miocardiopatía son variables y estas enfermedades pueden presentarse de diferentes formas. Existen 5 tipos de miocardiopatías, siendo la miocardiopatía hipertrófica la más común:
1. Miocardiopatía hipertrófica (MCH)
2. Miocardiopatía dilatada (DCM)
3. Miocardiopatía restrictiva (RCM)
4. Miocardiopatía arritmogénica del ventrículo derecho (ARVC)
5. Miocardiopatía aislada no compactada del ventrículo izquierdo (LVNC).
El panel de precisión de miocardiopatía Igenomix sirve como herramienta de diagnóstico y, en última instancia, conduce a un mejor tratamiento y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes.

Indicación

El Panel de Precisión Miocardiopatía Igenomix está indicado en aquellos casos en los que exista una sospecha clínica de miocardiopatía con o sin las siguientes manifestaciones:
- Dificultad para respirar
- Fatiga
- Arritmia (ritmo cardíaco anormal).
- Antecedentes familiares de arritmia
- Exploraciones anormales
- Taquicardia ventricular
- La fibrilación ventricular
- Dolor de pecho
- Mareo
- Muerte cardíaca súbita en la familia

Utilidad clínica

La utilidad clínica de este panel es:

El diagnóstico genético y molecular para un diagnóstico clínico preciso de un paciente con antecedentes personales o familiares de miocardiopatía, canalopatía o muerte súbita cardíaca.
Inicio temprano del tratamiento con un equipo multidisciplinario para la colocación preventiva adecuada de ICD, marcapasos, terapia farmacológica o procedimientos intervencionistas.
Evaluación de riesgos y asesoramiento genético de familiares asintomáticos según modalidad hereditaria.

Genes y enfermedades

Ver todos los genes y enfermedades

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*AARS2*	Combined Oxidative Phosphorylation Deficiency	AR	100	54 OF 54
*ABCC9*	Familial Atrial Fibrillation, Dilated Cardiomyopathy, Brugada Syndrome	AD	100	51 OF 51
*ACAD9*	Acyl-CoAa Dehydrogenase Deficiency	AR	100	62 OF 62
*ACADVL*	Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl-CoA Dehydrogenase Deficiency	AR	100	329 OF 329
*ACTA1*	Congenital Myopathy With Fiber-Type Disproportion , Nemaline Myopathy	AD,AR	100	224 OF 224
*ACTC1*	Atrial Septal Defect, Dilated Cardiomyopathy, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy	AD	99.93	72 OF 74
*ACTN2*	Dilated Cardiomyopathy With Or Without Left Ventricular Noncompaction, Congenital Myopathy With Structured Cores And Z-line Abnormalities	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, Limb-Girdle Muscular Dystrophy	AD,AR	99.78	171 OF 173
*APOA1*	Familial Visceral Amyloidosis, Apolipoprotein A-1 Deficiency	AD	99.89	68 OF 70
*ATP6*	Leber Optic Atrophy , Neuropathy, Ataxia, And Retinitis Pigmentosa, Mitochondrial DNA-Associated Leigh Syndrome, Narp Syndrome	MI	NA	NA
*ATP8*	Kearns-Sayre Syndrome		98.02	NA OF NA
*BAG3*	Dilated Cardiomyopathy	AD	100	83 OF 85
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Noonan Syndrome	AD	100	80 OF 80
*CACNA1C*	Brugada Syndrome, Timothy Syndrome, Romano-Ward Syndrome	AD	99.8	85 OF 85
*CALR3*	Hypertrophic Cardiomyopathy, Restrictive Cardiomyopathy		100	5 OF 5
*CAPN3*	Limb-Girdle Muscular Dystrophy	AD,AR	100	503 OF 505
*CASQ2*	Catecholaminergic Polymorphic Ventricular Tachycardia With Orwithout Atrial Dysfunction And/Or Dilated Cardiomyopathy	AD,AR	100	39 OF 40
*CBL*	Noonan Syndrome	AD	100	46 OF 47
*CDH2*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD	99.98	16 OF 16
*CHRM2*	Dilated Cardiomyopathy		99.98	1 OF 1
*COX15*	Fatal Infantile Cardioencephalomyopathy, Leigh Syndrome	AR,MI	100	5 OF 5
*COX3*	Leber Optic Atrophy , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Leber Hereditary Optic Neuropathy	MI	NA	NA
*CPT2*	Carnitine Palmitoyltransferase II Deficiency	AD,AR	99.99	116 OF 116
*CRPPA*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	97.69	NA OF NA
*CRYAB*	Dilated Cardiomyopathy	AD,AR	100	30 OF 30
*CSRP3*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	100	36 OF 36
*CTNNA3*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD	99.97	14 OF 17
*CYTB*	Histiocytoid Cardiomyopathy	MI	98.8	NA OF NA
*DBH*	Dopamine Beta-Hydroxylase Deficiency,	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 Cardiomyopathy	AR	99.98	13 OF 13
*DPM3*	Congenital Disorder Of Glycosylation Type Io, Muscular Dystrophy -Dystroglycanopathy (Congenital With Impaired Intellectual Development)	AR	100	4 OF 4
*DSC2*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD,AR	100	123 OF 124
*DSG2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Dilated Cardiomyopathy	AD	99.38	167 OF 169
*DSP*	Familial Arrhythmogenic Right Ventricular Dysplasia, Dilated Cardiomyopathy	AD,AR	99.91	366 OF 369
*DTNA*	Left Ventricular Noncompaction	AD	97	10 OF 10
*DYSF*	Miyoshi Myopathy, Limb-Girdle Muscular Dystrophy	AR	100	604 OF 606
*EEF1A2*	Early Infantile Epileptic Encephalopathy	AD	100	14 OF 14
*ELAC2*	Combined Oxidative Phosphorylation Deficiency	AR	100	32 OF 32
*EMD*	X-linked Emery-Dreifuss Muscular Dystrophy	X,XR,G	99.92	NA OF NA
*EPG5*	Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation and Absent Corpus Callosum , Vici Syndrome	AR	98.98	73 OF 73
*ETFA*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	92.33	32 OF 32
*ETFB*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	21 OF 21
*ETFDH*	Multiple Acyl-CoA Dehydrogenase Deficiency ,	AR	100	221 OF 222
*EYA4*	Dilated Cardiomyopathy	AD	100	32 OF 32
*FBXL4*	Mitochondrial DNA Depletion Syndrome (Encephalomyopathic Type)	AR	99.26	46 OF 51
*FBXO32*	Dilated Cardiomyopathy		100	2 OF 2
*FHL1*	Reducing Body Myopathy, X-Linked Emery-Dreifuss Muscular Dystrophy	X,XR,XD,G	99.98	NA OF NA
*FHOD3*	Hypertrophic Cardiomyopathy		99.95	35 OF 35
*FKRP*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	99.9	157 OF 157
*FKTN*	Dilated Cardiomyopathy, Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	98	54 OF 56
*FLNC*	Familial Hypertrophic Cardiomyopathy, Familial Isolated Restrictive Cardiomyopathy	AD	100	185 OF 186
*FOXRED1*	Mitochondrial Complex I Deficiency, Isolated Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	100	13 OF 13
*GAA*	Glycogen Storage Disease II	AR	100	623 OF 624
*GATA6*	Atrial Septal Defect, Atrioventricular Septal Defect, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Tetralogy Of Fallot	AD,AR	84.19	66 OF 84
*GATAD1*	Dilated Cardiomyopathy	AR	88.2	1 OF 1
*GBE1*	Glycogen Storage Disease IV, Adult Polyglucosan Body Disease	AR	99.95	71 OF 74
*GFM1*	Combined Oxidative Phosphorylation Deficiency	AR	100	27 OF 27
*GLA*	Fabry Disease	X,XR,G	98	NA OF NA
*GLB1*	GM1-Gangliosidosis, Morquio Syndrome	AR	100	242 OF 243
*GMPPB*	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congenital Myasthenic Syndromes With Glycosylation Defect, Limb-Girdle Muscular Dystrophy	AR	99.95	53 OF 53
*GSK3B*	Usher Syndrome, Alzheimer Disease		99.91	1 OF 1
*GTPBP3*	Combined Oxidative Phosphorylation Deficiency	AR	99.94	17 OF 17
*HADHA*	Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency	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, Hemochromatosis	AD,AR	100	55 OF 57
*HRAS*	Costello Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome	AD	100	34 OF 34
*IDUA*	Hurler Syndrome, Hurler-Scheie 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 Ventricular Dysplasia	AD,AR	100	56 OF 56
*KLHL24*	Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss	AD	99.96	8 OF 8
*KRAS*	Cardiofaciocutaneous Syndrome, Noonan Syndrome, Schimmelpenning-Feuerstein-Mims Syndrome, Toriello-Lacassie-Droste Syndrome	AD	100	38 OF 38
*LAMA2*	Congenital Merosin-Deficient Muscular Dystrophy, Limb-Girdle Muscular Dystrophy	AR	100	363 OF 377
*LAMP2*	Danon Disease , Glycogen Storage Disease Due To Lamp-2 Deficiency	X,XD,G	99.96	NA OF NA
*LARGE1*	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Walker-Warburg Syndrome	AR	100	NA OF NA
*LDB3*	Dilated Cardiomyopathy, Dilated With Or Without Left Ventricular Noncompaction	AD	100	60 OF 60
*LEMD2*	Congenital Cataract, Juvenile	AR	93.48	3 OF 3
*LMNA*	Dilated Cardiomyopathy, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Dilated Cardiomyopathy- Hypergonadotropic Hypogonadism	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, Noonan Syndrome	AD	100	31 OF 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis-Noonan 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 Phosphorylation Deficiency	AR	99.83	31 OF 31
*MYBPC3*	Familial Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction, Dilated Cardiomyopathy	AD,AR	99.95	1072 OF 1079
*MYBPHL*	Dilated Cardiomyopathy		100	3 OF 3
*MYH6*	Atrial Septal Defect, Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	99.94	140 OF 142
*MYH7*	Dilated Cardiomyopathy, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy	AD,AR	99.95	1053 OF 1054
*MYL2*	Familial Hypertrophic Cardiomyopathy, Congenital Fiber-type Disproportion Myopathy	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, Dilated Cardiomyopathy		99.83	3 OF 3
*MYOT*	Myopathy Spheroid Body Myotilinopathy, Limb-Girdle Muscular Dystrophy	AD	100	17 OF 17
*MYPN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Restrictive Cardiomyopathy	AD,AR	99.94	49 OF 49
*MYRF*	Cardiac-Urogenital Syndrome	AD	99.83	27 OF 27
*ND2*	Leber Optic Atrophy , Isolated Complex I Deficiency , Leber Hereditary Optic Neuropathy , Mitochondrial DNA-Associated Leigh Syndrome	MI	85.56	NA OF NA
*ND3*	Isolated Complex I Deficiency, Mitochondrial DNA-Associated Leigh Syndrome		99.99	NA OF NA
*ND4*	Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	NA	NA
*ND4L*	Leber Optic Atrophy, Leber Hereditary Optic Neuropathy	MI	99.83	NA OF NA
*ND5*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	99.89	NA OF NA
*ND6*	Leber Optic Atrophy , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	100	NA OF NA
*NDUFAF2*	Mitochondrial Complex I Deficiency, Isolated Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	99.39	6 OF 6
*NEXN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	99.7	44 OF 45
*NF1*	Neurofibromatosis-Noonan Syndrome, Watson Syndrome	AD	97.97	3082 OF 3166
*NKX2-5*	Atrial Septal Defect With Or Without Atrioventricular Conduction Defects, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Hypoplastic Left Heart Syndrome, Tetralogy Of Fallot, Ventricular Septal Defect	AD,AR	99.98	112 OF 116
*NONO*	Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	X,XR,G	99.59	NA OF NA
*NRAP*	Myofibrillar Myopathy, Reducing Body Myopathy, Congenital Myasthenic Syndrome		99.98	7 OF 7
*NRAS*	Noonan Syndrome, Schimmelpenning-Feuerstein-Mims 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 Ventricular Dysplasia, Brugada Syndrome	AD	100	306 OF 307
*PLEC*	Epidermolysis Bullosa Simplex With Muscular Dystrophy, Limb-Girdle Muscular Dystrophy	AD,AR	99.98	113 OF 113
*PLEKHM2*	Leukodystrophy and Acquired Microcephaly With or Without Dystonia		99.94	1 OF 1
*PLN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	100	26 OF 33
*PNPLA2*	Neutral Lipid Storage Disease With Myopathy	AR	100	53 OF 53
*PPA2*	Sudden Cardiac Failure, Sudden Cardiac Failure	AR	99.95	9 OF 9
*PPCS*	Dilated Cardiomyopathy	AR	98.95	4 OF 4
*PPP1CB*	Noonan Syndrome-Like Disorder With Loose Anagen Hair	AD	99.87	12 OF 12
*PRDM16*	Left Ventricular Noncompaction, Dilated Cardiomyopathy	AD	98.81	20 OF 20
*PRKAG2*	Familial Hypertrophic Cardiomyopathy, Glycogen Storage Disease Of Heart, Wolff-Parkinson-White Syndrome ,	AD	99.98	61 OF 61
*PTPN11*	Leopard Syndrome, Noonan Syndrome	AD	100	150 OF 151
*QRSL1*	Combined Oxidative Phosphorylation Deficiency	AR	99.91	6 OF 7
*RAF1*	Dilated Cardiomyopathy, Leopard Syndrome, Noonan Syndrome	AD	100	64 OF 64
*RASA1*	Capillary Malformation-Arteriovenous Malformation, Parkes Weber Syndrome	AD	99.56	169 OF 169
*RASA2*	Noonan Syndrome		99.82	5 OF 5
*RBCK1*	Polyglucosan Body Myopathy, Early-Onset, With Or Without Immunodeficiency	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 Ventricular Dysplasia, Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	AD	99.2	466 OF 472
*SCN5A*	Familal Atrial Fibrillation, Brugada Syndrome, Dilated Cardiomyopathy, Long QT Syndrome, Progressive Familial Heart Block, Type Ia, Sick Sinus Syndrome, Sudden Infant Death Syndrome , Ventricular Fibrillation During Myocardial Infarction, Romano-Ward Syndrome	AD,AR,MU	99.45	929 OF 942
*SCNN1B*	Bronchiectasis, Liddle Syndrome, Pseudohypoaldosteronism Type I	AD,AR	100	56 OF 56
*SCNN1G*	Bronchiectasis With Or Without Elevated Sweat Chloride, Liddle Syndrome, Pseudohypoaldosteronism Type I	AD,AR	100	28 OF 28
*SCO1*	Mitochondrial Complex IV Deficiency	AR,MI	100	6 OF 6
*SCO2*	Fatal Infantile Cardioencephalomyopathy, Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect, Leigh Syndrome With Cardiomyopathy	AD,AR	100	38 OF 38
*SDHA*	Dilated Cardiomyopathy, Leigh Syndrome, Mitochondrial Complex II Deficiency, Isolated Succinate-CoQ Reductase Deficiency, Leigh Syndrome With Leukodystrophy	AD,AR,MI	99.98	103 OF 103
*SGCA*	Limb-Girdle Muscular Dystrophy, Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy	AR	100	119 OF 119
*SGCB*	Limb-Girdle Muscular Dystrophy, Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy	AR	98.36	55 OF 65
*SGCD*	Dilated Cardiomyopathy, Limb-Girdle Muscular Dystrophy, Delta-Sarcoglycan-Related, Familial Isolated Dilated Cardiomyopathy	AD,AR	99.89	31 OF 32
*SGCG*	Limb-Girdle Muscular Dystrophy, Gamma-Sarcoglycan-Related Limb-girdle Muscular Dystrophy	AR	100	53 OF 55
*SHOC2*	Noonan Syndrome-Like Disorder With Loose Anagen Hair	AD	99.98	8 OF 8
*SLC22A5*	Systemic Primary Carnitine Deficiency	AR	100	161 OF 162
*SLC25A20*	Carnitine-Acylcarnitine Translocase Deficiency	AR	100	39 OF 39
*SLC25A4*	Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	AD,AR	99.84	16 OF 16
*SMCHD1*	Bosma Arhinia Microphthalmia Syndrome, Facioscapulohumeral Muscular Dystrophy, Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	AD,MU,D	99.64	131 OF 137
*SOS1*	Noonan Syndrome, Hereditary Gingival Fibromatosis	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, Polyvalvular Heart Disease Syndrome	AD	99	13 OF 13
*TAZ*	Barth Syndrome, Familial Isolated Dilated Cardiomyopathy	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, Limb-Girdle Muscular Dystrophy, Familial Isolated Dilated Cardiomyopathy	AD,AR	100	33 OF 33
*TGFB3*	Familial Arrhythmogenic Right Ventricular Dysplasia, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	34 OF 35
*TMEM43*	Familial Arrhythmogenic Right Ventricular Dysplasia, Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	AD	99.98	26 OF 26
*TMEM70*	Mitochondrial Complex V (ATP Synthase) Deficiency, TMEM-70 Mitochondrial Encephalo-Cardio-Myopathy	AR	100	22 OF 24
*TNNC1*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	100	28 OF 28
*TNNI3*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD,AR	100	139 OF 139
*TNNI3K*	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	AD	99.97	4 OF 4
*TNNT2*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD	100	169 OF 169
*TOR1AIP1*	Limb-Girdle Muscular Dystrophy	AR	97.5	5 OF 6
*TPM1*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	100	108 OF 108
*TRIM32*	Bardet-Biedl Syndrome, Limb-Girdle Muscular Dystrophy	AR	100	17 OF 17
*TRNC*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes	MI	NA	NA
*TRNE*	Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency		NA	NA
*TRNF*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers	MI	NA	NA
*TRNH*	MELAS, MERRF		NA	NA
*TRNI*	Myoclonic Epilepsy Associated With Ragged-Red Fibers	MI	NA	NA
*TRNK*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Mitochondrial DNA-associated Leigh Syndrome	MI	NA	NA
*TRNL1*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Kearns-Sayre Syndrome, Mitochondrial DNA-Associated Leigh Syndrome	MI	NA	NA
*TRNL2*	Mitochondrial DNA-Related Progressive External Ophthalmoplegia		NA	NA
*TRNN*	Mitochondrial Complex IV Deficiency, Mitochondrial DNA-Related Progressive External Ophthalmoplegia	AR,MI	NA	NA
*TRNQ*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes	MI	NA	NA
*TRNS1*	Mitochondrial Complex IV Deficiency , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Palmoplantar Keratoderma-Deafness Syndrome	AR,MI	NA	NA
*TRNS2*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Usher Syndrome	MI	NA	NA
*TRNT*	Lethal Infantile Mitochondrial Myopathy	MI	NA	NA
*TRNV*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial DNA-Associated Leigh Syndrome	MI	NA	NA
*TRNW*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial Myopathy, Episodic, With Optic Atrophy And Reversible Leukoencephalopathy, Mitochondrial DNA-Associated Leigh Syndrome	AR,MI	NA	NA
*TTN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Limb Girdle Muscular Dystrophy, Early-Onset Myopathy With Fatal Cardiomyopathy	AD,AR	97.93	1153 OF 1219
*TTR*	Amyloidosis VII, Carpal Tunnel Syndrome	AD	100	195 OF 196
*VCL*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	99.99	36 OF 37
*VCP*	Amyotrophic Lateral Sclerosis With Or Without Frontotemporal Dementia , Charcot-Marie-Tooth Disease, Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	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

Metodología

Referencias

Ver referencias científicas

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

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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.

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