MCID: RST002
MIFTS: 49

Restrictive Cardiomyopathy

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Restrictive Cardiomyopathy

MalaCards integrated aliases for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 12 14 69
Familial Restrictive Cardiomyopathy 12 24 25 29
Cardiomyopathy, Restrictive 25 29 42
Cardiomyopathy, Familial Restrictive 13
Primary Restrictive Cardiomyopathy 12
Cardiomyopathy, Constrictive 12
Cardiomyopathy Restrictive 52
Rcm 25

Classifications:



External Ids:

Disease Ontology 12 DOID:397
ICD10 33 I42.5
MeSH 42 D002313
NCIt 47 C62798
UMLS 69 C0007196

Summaries for Restrictive Cardiomyopathy

Genetics Home Reference : 25 Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).

MalaCards based summary : Restrictive Cardiomyopathy, also known as familial restrictive cardiomyopathy, is related to myocardial infarction and cardiomyopathy, familial restrictive, 3. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drug diuretics has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are cardiovascular system and muscle

Wikipedia : 72 Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which the walls are rigid, and the heart... more...

Related Diseases for Restrictive Cardiomyopathy

Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 1 Flnc-Related Familial Restrictive Cardiomyopathy
Mypn-Related Familial Restrictive Cardiomyopathy Tnni3-Related Familial Restrictive Cardiomyopathy
Tnnt2-Related Familial Restrictive Cardiomyopathy

Diseases related to Restrictive Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 27.9 MYL3 TNNI3 TNNT1 TNNT2
2 cardiomyopathy, familial restrictive, 3 12.2
3 familial isolated restrictive cardiomyopathy 12.1
4 tnnt2-related familial restrictive cardiomyopathy 11.9
5 childhood restrictive cardiomyopathy 11.9
6 flnc-related familial restrictive cardiomyopathy 11.9
7 mypn-related familial restrictive cardiomyopathy 11.9
8 tnni3-related familial restrictive cardiomyopathy 11.9
9 hereditary methemoglobinemia 11.3
10 familial amyloid cardiomyopathy 11.1
11 loeffler endocarditis 11.0
12 cardiomyopathy, familial restrictive, 1 10.9
13 cardiomyopathy 10.8
14 mylk-related thoracic aortic aneurysms and aortic dissections 10.7 DES MYH7
15 sdccag8-related bardet-biedl syndrome 10.7 DES MYH7
16 tnnt3-related arthrogryposis multiplex congenita, distal, type 2b 10.7 CRYAB TNNI3
17 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 10.7 DES MYH7
18 cardiomyopathy, dilated, 1ff 10.7 CRYAB TNNI3
19 cardiomyopathy, dilated, 1i 10.6 CRYAB DES
20 glomerulonephritis 10.6 TNNI3 TNNT2
21 female breast upper-outer quadrant cancer 10.6 TNNI3 TNNT2
22 marfanoid habitus-inguinal hernia-advanced bone age syndrome 10.5 ACTC1 DES
23 telo2-related intellectual disability-neurodevelopmental disorder 10.5 ACTC1 DES
24 aortic aneurysm 10.5 ACTC1 DES
25 esophagus leiomyosarcoma 10.5 ACTC1 DES
26 spleen angiosarcoma 10.5 ACTC1 DES
27 myoma 10.5 ACTC1 DES
28 cataract 16, multiple types 10.5 CRYAB MYH7
29 skin lipoma 10.5 ACTC1 DES
30 laryngeal neuroendocrine tumor 10.5 ACTC1 DES
31 uniparental disomy of chromosome 11 10.5 ACTC1 DES
32 myxoid leiomyosarcoma 10.5 ACTC1 DES
33 berk-tabatznik syndrome 10.5 ACTC1 DES
34 follicular infundibulum tumor 10.5 ACTC1 DES
35 punctate palmoplantar keratoderma type 2 10.5 ACTC1 DES
36 left ventricular noncompaction 10 10.5 MYBPC3 TTN
37 liver angiosarcoma 10.5 ACTC1 DES
38 spindle cell liposarcoma 10.5 ACTC1 DES
39 neurofibroma of the esophagus 10.4 ACTC1 DES
40 sebaceous adenoma 10.4 ACTC1 DES
41 juvenile xanthogranuloma 10.4 ACTC1 DES
42 short-rib thoracic dysplasia 12 10.4 ACTC1 DES
43 pericarditis 10.4
44 coronary restenosis 10.4 ACTC1 DES
45 constrictive pericarditis 10.4
46 secondary pulmonary hemosiderosis 10.4 ACTC1 DES
47 encephalitis 10.4 ACTC1 MYH7
48 splenic manifestation of prolymphocytic leukemia 10.4 ACTC1 DES
49 peroxisomal biogenesis disorders 10.4 MYH7 TTN
50 nephrogenic adenoma of urinary bladder 10.4 ACTC1 DES

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



Diseases related to Restrictive Cardiomyopathy

Symptoms & Phenotypes for Restrictive Cardiomyopathy

MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ACTC1 DES MYBPC3 MYH7 TNNI3 TNNT2
2 muscle MP:0005369 9.28 MYH7 TNNI3 TNNT1 TNNT2 TTN ACTC1

Drugs & Therapeutics for Restrictive Cardiomyopathy

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 diuretics

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
2 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
3 New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular Function Completed NCT01275963
4 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
5 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
6 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
7 Non-invasive Evaluation of Myocardial Stiffness by Elastography Recruiting NCT02537041
8 Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell Disease Active, not recruiting NCT02410811
9 Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) Active, not recruiting NCT01873963
10 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901
11 Plasty or Prosthesis to Treat Functional Mitral Regurgitation Suspended NCT00947921

Search NIH Clinical Center for Restrictive Cardiomyopathy

Cochrane evidence based reviews: cardiomyopathy, restrictive

Genetic Tests for Restrictive Cardiomyopathy

Genetic tests related to Restrictive Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy 29 24
2 Cardiomyopathy, Restrictive 29

Anatomical Context for Restrictive Cardiomyopathy

MalaCards organs/tissues related to Restrictive Cardiomyopathy:

39
Heart, Lung, Brain, Testes, T Cells, Thyroid, Liver

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 322)
id Title Authors Year
1
Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy. ( 28174160 )
2017
2
Clinical features of idiopathic restrictive cardiomyopathy: A retrospective multicenter cohort study over 2 decades. ( 28885342 )
2017
3
Continuous-flow, implantable biventricular assist device as bridge to cardiac transplantation in a small child with restrictive cardiomyopathy. ( 28843949 )
2017
4
Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach. ( 28515850 )
2017
5
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy. ( 28670500 )
2017
6
Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy. ( 28831623 )
2017
7
New Cardiac Imaging Algorithms to Diagnose Constrictive Pericarditis Versus Restrictive Cardiomyopathy. ( 28405937 )
2017
8
MY APPROACH to the evaluation of restrictive cardiomyopathy. ( 27989285 )
2017
9
Cardiac and peripheral autonomic control in restrictive cardiomyopathy. ( 28772037 )
2017
10
Feline Panleukopenia Virus Is Not Associated With Myocarditis or Endomyocardial Restrictive Cardiomyopathy in Cats. ( 28622497 )
2017
11
Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice. ( 28371863 )
2017
12
Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics. ( 28098235 )
2017
13
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. ( 28912185 )
2017
14
Hypertrophic restrictive cardiomyopathy with apical thinning: a peculiar case of genotype-phenotype correlation. ( 28650931 )
2017
15
The novel I+B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. ( 28493373 )
2017
16
Septal artery diastolic flow profile in hypertrophic restrictive cardiomyopathy: Doppler square root sign! ( 28407059 )
2017
17
Restrictive cardiomyopathy due to novel desmin gene mutation. ( 28703267 )
2017
18
A Rare Case of Pregnancy with Restrictive Cardiomyopathy. ( 28465964 )
2016
19
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. ( 28031081 )
2016
20
Idiopathic Restrictive Cardiomyopathy IsA Primarily a GeneticA Disease. ( 27339502 )
2016
21
Pathological Features and Pathogenesis of the Endomyocardial Form of Restrictive Cardiomyopathy in Cats. ( 27392420 )
2016
22
A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila. ( 27107639 )
2016
23
Utility of Echocardiography in the Assessment of Left Ventricular Diastolic Function and Restrictive Physiology in Children and Young Adults with Restrictive Cardiomyopathy: A Comparative Echocardiography-Catheterization Study. ( 27878632 )
2016
24
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. ( 27084525 )
2016
25
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. ( 27604170 )
2016
26
Diagnostic challenges in a long-term follow-up of hypereosinophilic restrictive cardiomyopathy. ( 27197008 )
2016
27
Decompressive atrioseptostomy (DAS) for the treatment of severe pulmonary hypertension secondary to restrictive cardiomyopathy. ( 26599749 )
2016
28
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. ( 27662471 )
2016
29
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. ( 27837283 )
2016
30
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 27266599 )
2016
31
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. ( 27148590 )
2016
32
The paramount importance of repeated left ventricular endomyocardial biopsy during the diagnosis of restrictive cardiomyopathy due to AL cardiac amyloidosis. ( 27553348 )
2016
33
Epidemiological and clinical features of the endomyocardial form of restrictive cardiomyopathy in cats: a review of 41 cases. ( 26822001 )
2016
34
Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. ( 28066262 )
2016
35
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. ( 27353145 )
2016
36
RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI). ( 28080919 )
2016
37
Heart Transplantation Outcomes in Radiation-Induced Restrictive Cardiomyopathy. ( 27084524 )
2016
38
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. ( 26666891 )
2016
39
Restrictive cardiomyopathy Troponin-I R145W mutation does not perturb myofilament length dependent activation in human cardiac sarcomeres. ( 27557662 )
2016
40
Mitral valve replacement for inflow obstruction of left ventricular assist device in a child with restrictive cardiomyopathy. ( 26453276 )
2015
41
Case 4 - A 79-Year-Old Man with Congestive Heart Failure Due to Restrictive Cardiomyopathy. ( 26559991 )
2015
42
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. ( 25582942 )
2015
43
Hypertrophic cardiomyopathy masquerading as infiltrative restrictive cardiomyopathy and refractory congestive failure-resolution with catheter ablation of atrial flutter - A case report. ( 26136635 )
2015
44
Ventricular assistant in restrictive cardiomyopathy: Making the right connection. ( 26395050 )
2015
45
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. ( 25813360 )
2015
46
Pathogenesis associated with a restrictive cardiomyopathy mutant in cardiac troponin T is due to reduced protein stability and greatly increased myofilament Ca2+ sensitivity. ( 25450489 )
2015
47
Left atrial ball valve thrombus in restrictive cardiomyopathy and normal mitral valve: Loose cannon in heart. ( 26688155 )
2015
48
NT pro B type natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. ( 25820049 )
2015
49
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. ( 25940119 )
2015
50
Regional left atrial function differentiation in patients with constrictive pericarditis and restrictive cardiomyopathy: a study using speckle tracking echocardiography. ( 26245471 )
2015

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh37 Chromosome MT, 1555: 1555
2 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
3 MYH7 NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Likely pathogenic rs397516153 GRCh37 Chromosome 14, 23894144: 23894144
4 TNNT2 NM_001001430.2(TNNT2): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503513 GRCh37 Chromosome 1, 201334420: 201334420
5 TNNI3 NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp) single nucleotide variant Pathogenic/Likely pathogenic rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
6 TNNI3 NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn) single nucleotide variant Pathogenic rs730880231 GRCh38 Chromosome 19, 55154057: 55154057

Expression for Restrictive Cardiomyopathy

Search GEO for disease gene expression data for Restrictive Cardiomyopathy.

Pathways for Restrictive Cardiomyopathy

GO Terms for Restrictive Cardiomyopathy

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.73 CRYAB DES MYBPC3 MYH7 MYPN TTN
2 myofibril GO:0030016 9.65 MYH7 TNNI3 TNNT2
3 M band GO:0031430 9.61 CRYAB MYBPC3 TTN
4 muscle myosin complex GO:0005859 9.58 MYH7 MYL3 TTN
5 I band GO:0031674 9.55 ACTC1 CRYAB MYL3 MYPN TTN
6 myosin filament GO:0032982 9.52 MYBPC3 MYH7
7 A band GO:0031672 9.51 MYBPC3 MYL3
8 troponin complex GO:0005861 9.5 TNNI3 TNNT1 TNNT2
9 cardiac Troponin complex GO:1990584 9.46 TNNI3 TNNT2
10 contractile fiber GO:0043292 9.37 DES TNNI3
11 cardiac myofibril GO:0097512 9.35 CRYAB DES MYBPC3 TNNI3 TNNT2
12 sarcomere GO:0030017 9.17 ACTC1 MYBPC3 MYH7 MYL3 MYPN TNNI3
13 cytosol GO:0005829 10.15 ACTC1 CRYAB DES MYBPC3 MYL3 TNNI3

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.72 CRYAB DES MYH7 TNNT2 TTN
2 sarcomere organization GO:0045214 9.63 MYBPC3 MYPN TTN
3 positive regulation of ATPase activity GO:0032781 9.61 MYBPC3 MYL3 TNNT2
4 regulation of heart contraction GO:0008016 9.58 DES TNNT2
5 regulation of the force of heart contraction GO:0002026 9.58 MYH7 MYL3
6 skeletal muscle contraction GO:0003009 9.58 MYH7 TNNI3 TNNT1
7 heart contraction GO:0060047 9.57 ACTC1 TNNI3
8 cardiac muscle tissue morphogenesis GO:0055008 9.56 ACTC1 TTN
9 striated muscle contraction GO:0006941 9.56 MYBPC3 MYH7 TNNI3 TTN
10 cardiac myofibril assembly GO:0055003 9.55 ACTC1 TTN
11 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 MYBPC3 MYH7 MYL3 TNNI3 TNNT2
12 negative regulation of ATPase activity GO:0032780 9.54 TNNI3 TNNT2
13 regulation of muscle contraction GO:0006937 9.54 TNNI3 TNNT1 TNNT2
14 transition between fast and slow fiber GO:0014883 9.52 MYH7 TNNT1
15 cardiac muscle fiber development GO:0048739 9.51 MYPN TTN
16 cardiac muscle contraction GO:0060048 9.5 ACTC1 MYBPC3 MYH7 MYL3 TNNI3 TNNT2
17 regulation of striated muscle contraction GO:0006942 9.49 MYBPC3 MYL3
18 skeletal muscle thin filament assembly GO:0030240 9.48 ACTC1 TTN
19 muscle filament sliding GO:0030049 9.28 ACTC1 DES MYBPC3 MYH7 MYL3 TNNI3

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.88 CRYAB DES MYBPC3 TTN TTR
2 actin binding GO:0003779 9.73 MYBPC3 MYH7 TNNI3 TNNT2
3 cytoskeletal protein binding GO:0008092 9.54 CRYAB DES MYPN
4 myosin binding GO:0017022 9.49 ACTC1 MYBPC3
5 tropomyosin binding GO:0005523 9.46 TNNT1 TNNT2
6 actin filament binding GO:0051015 9.46 MYBPC3 MYPN TNNI3 TTN
7 structural constituent of muscle GO:0008307 9.43 MYBPC3 MYL3 TTN
8 structural molecule activity conferring elasticity GO:0097493 9.4 MYBPC3 TTN
9 troponin T binding GO:0031014 9.32 TNNI3 TNNT1
10 troponin C binding GO:0030172 8.96 TNNI3 TNNT2
11 muscle alpha-actinin binding GO:0051371 8.8 MYBPC3 MYPN TTN

Sources for Restrictive 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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