MCID: RST002
MIFTS: 48

Restrictive Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Restrictive Cardiomyopathy

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Aliases & Descriptions for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 11 13 66
Familial Restrictive Cardiomyopathy 11 24 25
Cardiomyopathy, Restrictive 24 25 37
Cardiomyopathy, Familial Restrictive, 1 66
Cardiomyopathy, Familial Restrictive 12
 
Primary Restrictive Cardiomyopathy 11
Cardiomyopathy, Constrictive 11
Cardiomyopathy Restrictive 48
Rcm 24

Classifications:



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Disease Ontology11 DOID:397
ICD1028 I42.5
MeSH37 D002313
NCIt43 C62798

Summaries for Restrictive Cardiomyopathy

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Genetics Home Reference:24 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 are Cardiac Progenitor Differentiation and Cytoskeletal Signaling. Affiliated tissues include heart, lung and brain, and related mouse phenotype muscle.

Wikipedia:69 Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which the walls are rigid, and the heart... more...

Related Diseases for Restrictive Cardiomyopathy

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Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 1 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 107)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction28.8MYL3, TNNI3, TNNT1, TNNT2
2cardiomyopathy, familial restrictive, 312.3
3cardiomyopathy, familial restrictive, 112.3
4familial isolated restrictive cardiomyopathy12.2
5cardiomyopathy, familial restrictive, 212.1
6tnnt2-related familial restrictive cardiomyopathy12.0
7childhood restrictive cardiomyopathy12.0
8tnni3-related familial restrictive cardiomyopathy12.0
9cardiomyopathy, dilated, 1kk11.5
10loeffler endocarditis11.4
11cardiomyopathy10.9
12gingival recession10.6TNNI3, TNNT2
13transient neonatal thrombocytopenia10.5TNNI3, TNNT2
14pericarditis10.5
15constrictive pericarditis10.5
16xq12-q13.3 duplication syndrome10.4ACTC1, DES
17familial amyloid cardiomyopathy10.4
18craniosynostosis10.4MYH7, TNNI3, TNNT2
19intravascular fasciitis10.3ACTC1, DES
20skin lipoma10.3ACTC1, DES
21lymphangiosarcoma10.3ACTC1, DES
22tubular renal disease-cardiomyopathy syndrome10.3MYPN, TNNI3, TNNT2
23chondroblastoma10.3ACTC1, DES
24pulmonary venoocclusive disease10.3ACTC1, DES
25mollaret meningitis10.3ACTC1, DES
26malignant glandular tumor of peripheral nerve sheath10.3ACTC1, DES
27pura syndrome10.3ACTC1, DES
28pleuropulmonary blastoma type 210.3ACTC1, DES
29skin glomangioma10.3ACTC1, DES
30parachordoma10.3ACTC1, DES
31short-rib thoracic dysplasia 1210.3ACTC1, DES
32epilepsy, generalized, with febrile seizures plus, type 110.3DES, MYH7
33colon carcinoma in situ10.2TNNI3, TNNT1, TNNT2
34t-cell childhood acute lymphocytic leukemia10.2ACTC1, DES
35adult respiratory distress syndrome10.2TNNI3, TNNT1, TNNT2
36parovarian cyst10.2ACTC1, DES
37staphyloenterotoxemia10.2ACTC1, DES
38orbit rhabdomyosarcoma10.2ACTC1, DES
39gallbladder leiomyosarcoma10.1ACTC1, DES
40amyloidosis10.1
41frontal sinus squamous cell carcinoma10.1ACTC1, DES
42myopathy10.1
43myopathy, myofibrillar, 110.1CRYAB, DES
44heart disease10.1
45epidural neoplasm10.1ACTC1, DES
46hypereosinophilic syndrome10.0
47mild phosphoribosylpyrophosphate synthetase superactivity10.0ACTC1, DES
48cataract 16, multiple types10.0CRYAB, MYH7
49atrioventricular block10.0
50endomyocardial fibrosis10.0

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



Diseases related to restrictive cardiomyopathy

Symptoms for Restrictive Cardiomyopathy

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Drugs & Therapeutics for Restrictive Cardiomyopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diuretics1338

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Observation of Exercise Parameters in Advanced Heart FailureCompletedNCT01210573
2Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)RecruitingNCT01873963
3Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
4New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular FunctionRecruitingNCT01275963
5Non-invasive Evaluation of Myocardial Stiffness by ElastographyRecruitingNCT02537041
6Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell DiseaseActive, not recruitingNCT02410811
7The Genetics of Cardiomyopathy and Heart FailureActive, not recruitingNCT00703443
8Prognostic Factors , Morbidity and Mortality in Patients With Muscular Dystrophies Admitted in ICUActive, not recruitingNCT02685215
9Plasty or Prosthesis to Treat Functional Mitral RegurgitationSuspendedNCT00947921

Search NIH Clinical Center for Restrictive Cardiomyopathy


Cochrane evidence based reviews: cardiomyopathy, restrictive

Genetic Tests for Restrictive Cardiomyopathy

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Genetic tests related to Restrictive Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy25
2 Cardiomyopathy, Restrictive25

Anatomical Context for Restrictive Cardiomyopathy

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MalaCards organs/tissues related to Restrictive Cardiomyopathy:

34
Heart, Lung, Brain, Testes, T cells, Thyroid, Liver

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.1ACTC1, CRYAB, DES, MYBPC3, MYH7, TNNI3

Publications for Restrictive Cardiomyopathy

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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 299)
idTitleAuthorsYear
1
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. (27084525)
2016
2
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
3
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. (27604170)
2016
4
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
5
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
6
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
7
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
8
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
9
Effect of the oral vasopressin receptor antagonist tolvaptan on congestive cardiac failure in a child with restrictive cardiomyopathy. (23388069)
2013
10
Biventricular mechanics in constrictive pericarditis comparison with restrictive cardiomyopathy and impact of pericardiectomy. (23532508)
2013
11
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
12
Cardiac MRI in restrictive cardiomyopathy. (21975052)
2012
13
The relative atrial volume ratio and late gadolinium enhancement provide additive information to differentiate constrictive pericarditis from restrictive cardiomyopathy. (21349202)
2011
14
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. (20569525)
2010
15
Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy. (20580639)
2010
16
Genetics of restrictive cardiomyopathy. (20347786)
2010
17
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
18
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. (18467357)
2008
19
Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation". (17804094)
2008
20
Longitudinal mitral annular early diastolic velocities in differentiating effusive constrictive pericarditis from restrictive cardiomyopathy: a case with extreme and straddling variations in regional velocities. (19122257)
2007
21
Fatal biatrial thrombus in a patient with idiopathic restrictive cardiomyopathy during sinus rhythm. (17316843)
2007
22
Assessment of ventricular coupling with real-time cine MRI and its value to differentiate constrictive pericarditis from restrictive cardiomyopathy. (16228208)
2006
23
Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. (16449718)
2006
24
Free-floating left atrial ball thrombus developed in an 11-year-old child with restrictive cardiomyopathy during sinus rhythm: manifested as a major thromboembolic event. (16061134)
2005
25
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. (16288990)
2005
26
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (12531876)
2003
27
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
28
Restrictive cardiomyopathy in a patient with extrahepatic biliary atresia. (11410702)
2001
29
Systolic and diastolic forward flow in the left ventricular outflow tract in a patient with familiar restrictive cardiomyopathy. (11203043)
2000
30
Clinical profile and outcome of idiopathic restrictive cardiomyopathy. (10831523)
2000
31
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
1998
32
Collagen subtypes and matrix metalloproteinase in idiopathic restrictive cardiomyopathy. (9688428)
1998
33
Inherited restrictive cardiomyopathy in a 74-year-old woman: a case of Fabry's disease. (7817917)
1995
34
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
35
Multiple myeloma complicated by restrictive cardiomyopathy and cardiac tamponade. (8449098)
1993
36
Differentiation of constrictive pericarditis from restrictive cardiomyopathy by Doppler transesophageal echocardiographic measurements of respiratory variations in pulmonary venous flow. (8245352)
1993
37
Fatal outcome of pyruvate loading test in child with restrictive cardiomyopathy. (1681327)
1991
38
Myocardial tuberculosis presenting as restrictive cardiomyopathy. (2389712)
1990
39
Juvenile cases of restrictive cardiomyopathy without eosinophilia. (2093720)
1990
40
Differentiation of constrictive pericarditis and restrictive cardiomyopathy by radionuclide ventriculography. (2741778)
1989
41
Restrictive cardiomyopathy with kappa light chain deposits in myocardium as a complication of multiple myeloma. Histochemical and electron microscopic observations. (3140760)
1988
42
Intramyocardial coronary arteritis and restrictive cardiomyopathy. (3604862)
1987
43
LV myxoma resembling restrictive cardiomyopathy. (3788798)
1986
44
Restrictive cardiomyopathy in scleroderma. (6726049)
1984
45
Restrictive cardiomyopathy with pseudotumor formation of the left ventricle. (7155950)
1982
46
Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. (7446557)
1980
47
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. (869976)
1977
48
Cardiac amyloidosis, contrictive pericarditis and restrictive cardiomyopathy. (983951)
1976
49
Usefulness of systolic time intervals in differential diagnosis of constrictive pericarditis and restrictive cardiomyopathy. (1252295)
1976
50
Proceedings: Primary restrictive cardiomyopathy. (1137685)
1975

Variations for Restrictive Cardiomyopathy

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Clinvar genetic disease variations for Restrictive Cardiomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TNNI3NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104894728GRCh37Chr 19, 55663266: 55663266
2TNNI3NM_000363.4(TNNI3): c.575G> A (p.Arg192His)single nucleotide variantLikely pathogenic, Pathogenicrs104894729GRCh37Chr 19, 55663260: 55663260
3TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantLikely pathogenic, Pathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs121917761GRCh37Chr 19, 55665436: 55665436
5TNNT2NM_001001430.2(TNNT2): c.280C> T (p.Arg94Cys)single nucleotide variantLikely pathogenic, Pathogenicrs727503513GRCh37Chr 1, 201334420: 201334420
6TNNI3NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp)single nucleotide variantLikely pathogenic, Pathogenicrs727503504GRCh38Chr 19, 55154071: 55154071
7TNNI3NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn)single nucleotide variantPathogenicrs730880231GRCh38Chr 19, 55154057: 55154057
8MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantPathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
9MT-RNR1m.1555A> Gsingle nucleotide variantdrug responsers267606617GRCh37Chr MT, 1555: 1555

Expression for genes affiliated with Restrictive Cardiomyopathy

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Search GEO for disease gene expression data for Restrictive Cardiomyopathy.

Pathways for genes affiliated with Restrictive Cardiomyopathy

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GO Terms for genes affiliated with Restrictive Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1muscle myosin complexGO:000585910.4MYH7, MYL3
2A bandGO:003167210.4MYBPC3, MYL3
3myosin complexGO:001645910.3MYH7, MYL3
4myofibrilGO:003001610.1MYH7, TNNI3, TNNT2
5troponin complexGO:000586110.0TNNI3, TNNT1, TNNT2
6contractile fiberGO:00432929.6CRYAB, DES, TNNI3
7Z discGO:00300189.1CRYAB, DES, MYH7, MYPN
8sarcomereGO:00300179.0ACTC1, MYBPC3, MYH7, MYL3, TNNI3, TNNT2
9I bandGO:00316748.8ACTC1, CRYAB, MYL3, MYPN
10cytosolGO:00058296.8ACTC1, CRYAB, DES, MYBPC3, MYL3, TNNI3

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1striated muscle contractionGO:000694110.4MYH7, TNNI3
2negative regulation of ATPase activityGO:003278010.3TNNI3, TNNT2
3regulation of striated muscle contractionGO:000694210.1MYBPC3, MYL3
4transition between fast and slow fiberGO:001488310.1MYH7, TNNT1
5regulation of the force of heart contractionGO:000202610.0MYH7, MYL3
6regulation of heart contractionGO:00080169.9DES, TNNT2
7heart contractionGO:00600479.8ACTC1, TNNI3
8regulation of muscle contractionGO:00069379.8TNNI3, TNNT1, TNNT2
9skeletal muscle contractionGO:00030099.7MYH7, TNNI3, TNNT1
10ventricular cardiac muscle tissue morphogenesisGO:00550109.2MYBPC3, MYH7, MYL3, TNNI3, TNNT2
11positive regulation of ATPase activityGO:00327819.1MYBPC3, MYL3, TNNT2
12muscle contractionGO:00069368.8CRYAB, DES, MYH7, TNNT2
13cardiac muscle contractionGO:00600488.5ACTC1, MYBPC3, MYH7, MYL3, TNNI3, TNNT2
14muscle filament slidingGO:00300497.6ACTC1, DES, MYBPC3, MYH7, MYL3, TNNI3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:003017210.6TNNI3, TNNT2
2troponin T bindingGO:003101410.2TNNI3, TNNT1
3tropomyosin bindingGO:000552310.1TNNT1, TNNT2
4myosin bindingGO:00170229.9ACTC1, MYBPC3
5structural constituent of muscleGO:00083079.9MYBPC3, MYL3
6cytoskeletal protein bindingGO:00080929.2CRYAB, DES, MYPN
7actin bindingGO:00037799.0MYBPC3, MYH7, MYPN, TNNI3, TNNT2
8identical protein bindingGO:00428028.7CRYAB, DES, MYBPC3, TTR

Sources for Restrictive Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet