MCID: MTC028
MIFTS: 32

Mitochondrial Cardiomyopathy

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Mitochondrial Cardiomyopathy

MalaCards integrated aliases for Mitochondrial Cardiomyopathy:

Name: Mitochondrial Cardiomyopathy 24 69
Cardiomyopathy, Maternally Transmitted 24
Cardiomyopathy, Mitochondrial 29

Classifications:



Summaries for Mitochondrial Cardiomyopathy

MalaCards based summary : Mitochondrial Cardiomyopathy, also known as cardiomyopathy, maternally transmitted, is related to congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome and mitochondrial complex v deficiency, mitochondrial 1. An important gene associated with Mitochondrial Cardiomyopathy is MT-TL2 (Mitochondrially Encoded TRNA Leucine 2 (CUN)), and among its related pathways/superpathways are Glucose / Energy Metabolism and tRNA Aminoacylation. The drugs Iron and Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and kidney.

Related Diseases for Mitochondrial Cardiomyopathy

Graphical network of the top 20 diseases related to Mitochondrial Cardiomyopathy:



Diseases related to Mitochondrial Cardiomyopathy

Symptoms & Phenotypes for Mitochondrial Cardiomyopathy

Drugs & Therapeutics for Mitochondrial Cardiomyopathy

Drugs for Mitochondrial Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 1, Phase 2 7439-89-6 23925
2 Chelating Agents Phase 1, Phase 2
3 Iron Chelating Agents Phase 1, Phase 2
4 Micronutrients Phase 1, Phase 2
5 Trace Elements Phase 1, Phase 2
6 Ferric Compounds Phase 2
7 Hematinics Phase 2
8 Pharmaceutical Solutions Phase 2
9 Acipimox Approved 51037-30-0
10
Metformin Approved 657-24-9 14219 4091
11 Tocopherol Approved, Nutraceutical
12
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
13 Antimetabolites
14 Hormones
15 Hypolipidemic Agents
16 insulin
17 Insulin, Globin Zinc
18 Lipid Regulating Agents
19 Antioxidants
20 Protective Agents
21 Tocopherols
22 Tocotrienols
23 Vitamins
24 carnitine Nutraceutical
25 Malonate Nutraceutical
26 pyruvate Nutraceutical
27 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
2 Ferric Carboxymaltose to Improve Skeletal Muscle Metabolism in Heart Failure Patients With Functional Iron Deficiency Recruiting NCT03218384 Phase 2 Ferric Carboxymaltose;Placebo
3 Nitrite in Hypertrophic Cardiomyopathy (HCM) Study Recruiting NCT03251287 Phase 1 Sodium Nitrate;Placebo
4 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
5 Relationship Between Abnormalities of Desmin Cytoskeleton, Mitochondrial Activity and Expression of Ubiquitin in Aspect of Pathogenesis of Heart Failure and Prognosis Unknown status NCT00819442
6 Cross-over Study on Effect of Lipid Lowering by Acipimox on Cardiac and Skeletal Muscle Mitochondrial Function Completed NCT00943059 Acipimox;Cellulosum Mycrocryst
7 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
8 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
9 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
10 Exercise Training in Barth Syndrome Completed NCT01194141
11 Characterization of Obesity-related Cardiomyopathy Through Exploration of Human Atrial Trabeculae Contraction Recruiting NCT02384252
12 Heart and Muscle Metabolism in Barth Syndrome Recruiting NCT01625663
13 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
14 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Active, not recruiting NCT02840669
15 In and ex Vivo Mitochondrial Function of the Heart Enrolling by invitation NCT03049228
16 The Role of Mitochondrial Respiration in the Cardioprotective Capacity of IPC in Diabetic and Non-diabetic Patients Enrolling by invitation NCT02993484 Dimethyl Malonate
17 UTSW HP [13-C] Pyruvate Injection in HCM Not yet recruiting NCT03057002 Hyperpolarized 13C-Pyruvate
18 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112

Search NIH Clinical Center for Mitochondrial Cardiomyopathy

Genetic Tests for Mitochondrial Cardiomyopathy

Genetic tests related to Mitochondrial Cardiomyopathy:

id Genetic test Affiliating Genes
1 Cardiomyopathy, Mitochondrial 29
2 Mitochondrial Cardiomyopathy 24 MT-TL1

Anatomical Context for Mitochondrial Cardiomyopathy

MalaCards organs/tissues related to Mitochondrial Cardiomyopathy:

39
Heart, Skeletal Muscle, Kidney, Brain

Publications for Mitochondrial Cardiomyopathy

Articles related to Mitochondrial Cardiomyopathy:

(show top 50) (show all 72)
id Title Authors Year
1
Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening. ( 28104394 )
2017
2
Mitochondrial Cardiomyopathy with a Unique (99m)Tc-MIBI/(123)I-BMIPP Mismatch Pattern. ( 28154277 )
2017
3
Advances in Diagnosis and Management of Mitochondrial Cardiomyopathy. ( 28483032 )
2017
4
Late-onset Mitochondrial Cardiomyopathy Triggered by Anticancer Treatment. ( 28566598 )
2017
5
Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses. ( 28620551 )
2017
6
Progress in Molecular Genetic Study of Mitochondrial Cardiomyopathy. ( 28695818 )
2017
7
Electron microscopy reveals morphosis of multi-layered mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy. ( 26912602 )
2016
8
Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt. ( 27154400 )
2016
9
Electron Microscopic Findings Are an Important Aid for Diagnosing Mitochondrial Cardiomyopathy With Mitochondrial DNA Mutation 3243A>G. ( 27402860 )
2016
10
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. ( 27839525 )
2016
11
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. ( 25959673 )
2015
12
Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes. ( 26258512 )
2015
13
Mitochondrial cardiomyopathy and related arrhythmias. ( 26002393 )
2015
14
Mitochondrial cardiomyopathy: an exceptional cause of cardiac hypertrophy. ( 24560355 )
2014
15
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. ( 24813252 )
2014
16
Extracellular volume imaging and quantitative t2 mapping for the diagnosis of mitochondrial cardiomyopathy. ( 25385939 )
2014
17
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. ( 24705334 )
2014
18
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. ( 24082366 )
2013
19
Evaluation of epicardial and intra-myocardial fat in a patient with mitochondrial cardiomyopathy. ( 23582435 )
2013
20
Cardiomyocyte specific deletion of Crif1 causes mitochondrial cardiomyopathy in mice. ( 23308255 )
2013
21
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. ( 23754918 )
2012
22
Vacant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy and diabetes mellitus. ( 22879003 )
2012
23
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. ( 21156720 )
2011
24
Cardiac magnetic resonance aids in the diagnosis of mitochondrial cardiomyopathy. ( 21321176 )
2011
25
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. ( 21786366 )
2011
26
Human "nuclear" mitochondrial cardiomyopathy a novel mouse model characterizes the disease. ( 21232698 )
2011
27
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet. ( 22106289 )
2011
28
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. ( 21457908 )
2011
29
Enhanced cardiomyocyte Ca(2+) cycling precedes terminal AV-block in mitochondrial cardiomyopathy Mterf3 KO mice. ( 21381862 )
2011
30
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. ( 21549344 )
2011
31
Mitochondrial cardiomyopathy presenting as hypertrophic cardiomyopathy with advanced chronic kidney disease. ( 20620745 )
2010
32
Energy States in mitochondrial cardiomyopathy. In vivo functional imaging and L-arginine therapy. ( 21088330 )
2010
33
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. ( 20978534 )
2010
34
Giant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy: transmission and 3-dimensional scanning electron microscopy. ( 20159843 )
2010
35
Abnormal myocardial energy-production state in mitochondrial cardiomyopathy and acute response to L-arginine infusion. C-11 acetate kinetics revealed by positron emission tomography. ( 21048330 )
2010
36
Evidence for nuclear modifier gene in mitochondrial cardiomyopathy. ( 19233192 )
2009
37
A case of mitochondrial cardiomyopathy with pericardial effusion evaluated by (99m)Tc-MIBI myocardial scintigraphy. ( 19777318 )
2009
38
A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. ( 17689757 )
2008
39
Images in cardiovascular medicine. Mitochondrial cardiomyopathy evaluated with cardiac magnetic resonance. ( 17620516 )
2007
40
Evaluation of respiratory chain failure in mitochondrial cardiomyopathy by assessments of 99mTc-MIBI washout and 123I-BMIPP/99mTc-MIBI mismatch. ( 17280875 )
2007
41
Keshan disease and mitochondrial cardiomyopathy. ( 17312989 )
2006
42
Increased reactive oxygen species and anti-oxidative response in mitochondrial cardiomyopathy. ( 15849452 )
2005
43
Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. ( 15757973 )
2005
44
Neonatal mitochondrial cardiomyopathy. ( 15630531 )
2004
45
Carvedilol protects against doxorubicin-induced mitochondrial cardiomyopathy. ( 12498738 )
2002
46
Mitochondrial cardiomyopathy--case report. ( 11933462 )
2002
47
A case of fatal mitochondrial cardiomyopathy. ( 12041891 )
2002
48
Heart transplantation in children with mitochondrial cardiomyopathy. ( 11602555 )
2001
49
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. ( 11286379 )
2001
50
Three dimensional configuration of mitochondria in left ventricular myocyte in mitochondrial cardiomyopathy: scanning electron microscopy by the osmium-DMSO-osmium method. ( 12067455 )
2001

Variations for Mitochondrial Cardiomyopathy

ClinVar genetic disease variations for Mitochondrial Cardiomyopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL2 m.12297T> C single nucleotide variant Pathogenic rs121434464 GRCh37 Chromosome MT, 12297: 12297

Expression for Mitochondrial Cardiomyopathy

Search GEO for disease gene expression data for Mitochondrial Cardiomyopathy.

Pathways for Mitochondrial Cardiomyopathy

Pathways related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.6 CLPP CS HMOX1
2
Show member pathways
11.17 AARS AARS2 MT-TL1 MT-TL2

GO Terms for Mitochondrial Cardiomyopathy

Cellular components related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.1 AARS AARS2 CLPP COA5 CS MRPL3

Biological processes related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.43 AARS AARS2 MRPL3
2 tRNA modification GO:0006400 9.16 AARS AARS2
3 tRNA aminoacylation GO:0043039 8.96 AARS AARS2
4 alanyl-tRNA aminoacylation GO:0006419 8.62 AARS AARS2

Molecular functions related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.32 AARS AARS2
2 aminoacyl-tRNA ligase activity GO:0004812 9.26 AARS AARS2
3 amino acid binding GO:0016597 9.16 AARS AARS2
4 ligase activity, forming aminoacyl-tRNA and related compounds GO:0016876 8.96 AARS AARS2
5 alanine-tRNA ligase activity GO:0004813 8.62 AARS AARS2

Sources for Mitochondrial Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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