MCID: RST002
MIFTS: 50

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 68
Familial Restrictive Cardiomyopathy 11 25 27
Cardiomyopathy, Restrictive 25 27 39
Cardiomyopathy, Familial Restrictive, 1 68
Cardiomyopathy, Familial Restrictive 12
 
Primary Restrictive Cardiomyopathy 11
Cardiomyopathy, Constrictive 11
Cardiomyopathy Restrictive 50
Rcm 25

Classifications:



External Ids:

Disease Ontology11 DOID:397
ICD1030 I42.5
MeSH39 D002313
NCIt45 C62798

Summaries for Restrictive Cardiomyopathy

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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 are Cardiac Progenitor Differentiation and Cytoskeletal Signaling. Affiliated tissues include heart, lung and brain, and related mouse phenotypes are cardiovascular system and muscle.

Wikipedia:71 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 Cardiomyopathy, Familial Restrictive 5

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 infarction28.1MYL3, TNNI3, TNNT1, TNNT2
2cardiomyopathy, familial restrictive, 312.3
3cardiomyopathy, familial restrictive, 112.3
4cardiomyopathy, familial restrictive 512.2
5familial isolated restrictive cardiomyopathy12.1
6cardiomyopathy, familial restrictive, 212.0
7tnnt2-related familial restrictive cardiomyopathy11.9
8childhood restrictive cardiomyopathy11.9
9tnni3-related familial restrictive cardiomyopathy11.9
10cardiomyopathy, dilated, 1kk11.7
11loeffler endocarditis11.5
12familial amyloid cardiomyopathy11.1
13cardiomyopathy10.8
14gingival recession10.5TNNI3, TNNT2
15xq12-q13.3 duplication syndrome10.5ACTC1, DES
16transient neonatal thrombocytopenia10.5TNNI3, TNNT2
17intravascular fasciitis10.4ACTC1, DES
18skin lipoma10.4ACTC1, DES
19lymphangiosarcoma10.4ACTC1, DES
20chondroblastoma10.4ACTC1, DES
21pericarditis10.4
22pulmonary venoocclusive disease10.4ACTC1, DES
23constrictive pericarditis10.4
24mollaret meningitis10.4ACTC1, DES
25malignant glandular tumor of peripheral nerve sheath10.4ACTC1, DES
26pura syndrome10.4ACTC1, DES
27pleuropulmonary blastoma type 210.4ACTC1, DES
28skin glomangioma10.4ACTC1, DES
29parachordoma10.4ACTC1, DES
30short-rib thoracic dysplasia 1210.3ACTC1, DES
31t-cell childhood acute lymphocytic leukemia10.3ACTC1, DES
32parovarian cyst10.3ACTC1, DES
33myopathy, myofibrillar, 110.3CRYAB, DES
34muscular dystrophy, rigid spine, 110.3MYH7, TTN
35craniosynostosis10.3MYH7, TNNI3, TNNT2
36symmastia10.3MYH7, TTN
37staphyloenterotoxemia10.3ACTC1, DES
38tubular renal disease-cardiomyopathy syndrome10.3MYPN, TNNI3, TNNT2
39orbit rhabdomyosarcoma10.3ACTC1, DES
40cataract 16, multiple types10.3CRYAB, MYH7
41gallbladder leiomyosarcoma10.2ACTC1, DES
42frontal sinus squamous cell carcinoma10.2ACTC1, DES
43epilepsy, generalized, with febrile seizures plus, type 110.2DES, MYH7
44epidural neoplasm10.2ACTC1, DES
45mild phosphoribosylpyrophosphate synthetase superactivity10.1ACTC1, DES
46anus leiomyosarcoma10.1ACTC1, DES
47colon carcinoma in situ10.0TNNI3, TNNT1, TNNT2
48adult respiratory distress syndrome10.0TNNI3, TNNT1, TNNT2
49amyloidosis10.0
50megarbane jalkh syndrome10.0ACTC1, DES

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



Diseases related to restrictive cardiomyopathy

Symptoms & Phenotypes for Restrictive Cardiomyopathy

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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.8ACTC1, DES, MYBPC3, MYH7, TNNI3, TNNT2
2MP:00053696.9ACTC1, CRYAB, DES, MYBPC3, MYH7, TNNI3

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
1diuretics1372

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Genetics of Cardiomyopathy and Heart FailureUnknown statusNCT00703443
2Prospective Observation of Exercise Parameters in Advanced Heart FailureCompletedNCT01210573
3New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular FunctionCompletedNCT01275963
4Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)RecruitingNCT01873963
5Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
6Non-invasive Evaluation of Myocardial Stiffness by ElastographyRecruitingNCT02537041
7Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell DiseaseActive, not recruitingNCT02410811
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 Cardiomyopathy27
2 Cardiomyopathy, Restrictive27

Anatomical Context for Restrictive Cardiomyopathy

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MalaCards organs/tissues related to Restrictive Cardiomyopathy:

36
Heart, Lung, Brain, Testes, T cells, Thyroid, Liver

Publications for Restrictive Cardiomyopathy

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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 305)
idTitleAuthorsYear
1
MY APPROACH to the evaluation of restrictive cardiomyopathy. (27989285)
2017
2
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. (27084525)
2016
3
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
4
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. (27604170)
2016
5
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. (27837283)
2016
6
RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI). (28080919)
2016
7
The paramount importance of repeated left ventricular endomyocardial biopsy during the diagnosis of restrictive cardiomyopathy due to AL cardiac amyloidosis. (27553348)
2016
8
Diagnostic challenges in a long-term follow-up of hypereosinophilic restrictive cardiomyopathy. (27197008)
2016
9
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. (28031081)
2016
10
Heart Transplantation Outcomes in Radiation-Induced Restrictive Cardiomyopathy. (27084524)
2016
11
Restrictive cardiomyopathy Troponin-I R145W mutation does not perturb myofilament length dependent activation in human cardiac sarcomeres. (27557662)
2016
12
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. (27353145)
2016
13
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. (27662471)
2016
14
Idiopathic Restrictive Cardiomyopathy IsA Primarily a GeneticA Disease. (27339502)
2016
15
Pathological Features and Pathogenesis of the Endomyocardial Form of Restrictive Cardiomyopathy in Cats. (27392420)
2016
16
Decompressive atrioseptostomy (DAS) for the treatment of severe pulmonary hypertension secondary to restrictive cardiomyopathy. (26599749)
2016
17
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. (27266599)
2016
18
Epidemiological and clinical features of the endomyocardial form of restrictive cardiomyopathy in cats: a review of 41 cases. (26822001)
2016
19
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
20
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. (26666891)
2016
21
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
22
Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. (28066262)
2016
23
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
24
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
25
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
26
Mitral valve replacement for inflow obstruction of left ventricular assist device in a child with restrictive cardiomyopathy. (26453276)
2015
27
Case 4 - A 79-Year-Old Man with Congestive Heart Failure Due to Restrictive Cardiomyopathy. (26559991)
2015
28
NT pro B type natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. (25820049)
2015
29
Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing. (26163040)
2015
30
Ventricular assistant in restrictive cardiomyopathy: Making the right connection. (26395050)
2015
31
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. (25813360)
2015
32
Left atrial ball valve thrombus in restrictive cardiomyopathy and normal mitral valve: Loose cannon in heart. (26688155)
2015
33
Regional left atrial function differentiation in patients with constrictive pericarditis and restrictive cardiomyopathy: a study using speckle tracking echocardiography. (26245471)
2015
34
Hypertrophic cardiomyopathy masquerading as infiltrative restrictive cardiomyopathy and refractory congestive failure-resolution with catheter ablation of atrial flutter - A case report. (26136635)
2015
35
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
36
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
37
Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene. (24474965)
2014
38
Applicability of Published Guidelines for Assessment of Left Ventricular Diastolic Function in Adults to Children with Restrictive Cardiomyopathy: An Observational Study. (25193183)
2014
39
LAPeffler endocarditis and restrictive cardiomyopathy with biventricular apical thrombi. (27278917)
2014
40
Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. (25541130)
2014
41
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. (25036271)
2014
42
Diagnostic concordance of echocardiography and cardiac magnetic resonance-based tissue tracking for differentiating constrictive pericarditis from restrictive cardiomyopathy. (25107553)
2014
43
Restrictive cardiomyopathy in a patient presented with fever, vomiting, and consciousness disorder. (24745874)
2014
44
Atrial natriuretic factor type amyloid leading to restrictive cardiomyopathy. (24709207)
2014
45
Titin mutation in familial restrictive cardiomyopathy. (24315344)
2014
46
Effect of the oral vasopressin receptor antagonist tolvaptan on congestive cardiac failure in a child with restrictive cardiomyopathy. (23388069)
2013
47
Biventricular mechanics in constrictive pericarditis comparison with restrictive cardiomyopathy and impact of pericardiectomy. (23532508)
2013
48
Heart transplantation for all comers: improving outcomes for pediatric candidates with restrictive cardiomyopathy and congenital heart disease. (23608250)
2013
49
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
50
Repeated intermittent administration of a ubiquitous proteasome inhibitor leads to restrictive cardiomyopathy. (23639782)
2013

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)SNVPathogenicrs104894728GRCh37Chr 19, 55663266: 55663266
2TNNI3NM_000363.4(TNNI3): c.575G> A (p.Arg192His)SNVLikely pathogenic, Pathogenicrs104894729GRCh37Chr 19, 55663260: 55663260
3TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)SNVLikely pathogenic, Pathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr)SNVPathogenicrs121917761GRCh37Chr 19, 55665436: 55665436
5TNNT2NM_001001430.2(TNNT2): c.280C> T (p.Arg94Cys)SNVLikely pathogenic, Pathogenicrs727503513GRCh37Chr 1, 201334420: 201334420
6TNNI3NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp)SNVLikely pathogenic, Pathogenicrs727503504GRCh37Chr 19, 55665439: 55665439
7TNNI3NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn)SNVPathogenicrs730880231GRCh38Chr 19, 55154057: 55154057
8MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)SNVPathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
9MT-CO1;MT-RNR1m.1555A> GSNVdrug 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
1myofibrilGO:003001610.3MYH7, TNNI3, TNNT2
2contractile fiberGO:004329210.2CRYAB, DES, TNNI3
3A bandGO:003167210.1MYBPC3, MYL3
4myosin complexGO:001645910.0MYH7, MYL3
5troponin complexGO:00058619.9TNNI3, TNNT1, TNNT2
6muscle myosin complexGO:00058599.5MYH7, MYL3, TTN
7sarcomereGO:00300178.6ACTC1, MYBPC3, MYH7, MYL3, TNNI3, TNNT2
8Z discGO:00300188.5CRYAB, DES, MYH7, MYPN, TTN
9I bandGO:00316748.4ACTC1, CRYAB, MYL3, MYPN, TTN
10cytosolGO:00058297.0ACTC1, CRYAB, DES, MYBPC3, MYL3, TNNI3

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:003278010.5TNNI3, TNNT2
2regulation of heart contractionGO:000801610.5DES, TNNT2
3heart contractionGO:006004710.4ACTC1, TNNI3
4cardiac muscle tissue morphogenesisGO:005500810.1ACTC1, TTN
5cardiac myofibril assemblyGO:005500310.1ACTC1, TTN
6sarcomere organizationGO:004521410.1MYPN, TTN
7transition between fast and slow fiberGO:001488310.0MYH7, TNNT1
8skeletal muscle thin filament assemblyGO:00302409.9ACTC1, TTN
9regulation of the force of heart contractionGO:00020269.9MYH7, MYL3
10regulation of muscle contractionGO:00069379.9TNNI3, TNNT1, TNNT2
11regulation of striated muscle contractionGO:00069429.9MYBPC3, MYL3
12striated muscle contractionGO:00069419.8MYH7, TNNI3, TTN
13skeletal muscle contractionGO:00030099.8MYH7, TNNI3, TNNT1
14positive regulation of ATPase activityGO:00327819.6MYBPC3, MYL3, TNNT2
15muscle contractionGO:00069369.2CRYAB, DES, MYH7, TNNT2, TTN
16ventricular cardiac muscle tissue morphogenesisGO:00550108.5MYBPC3, MYH7, MYL3, TNNI3, TNNT2
17cardiac muscle contractionGO:00600488.2ACTC1, MYBPC3, MYH7, MYL3, TNNI3, TNNT2
18muscle filament slidingGO:00300497.2ACTC1, DES, MYBPC3, MYH7, MYL3, TNNI3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.2ACTC1, MYBPC3
2muscle alpha-actinin bindingGO:005137110.1MYPN, TTN
3troponin C bindingGO:003017210.0TNNI3, TNNT2
4cytoskeletal protein bindingGO:000809210.0CRYAB, DES, MYPN
5tropomyosin bindingGO:00055239.7TNNT1, TNNT2
6actin bindingGO:00037799.6MYBPC3, MYH7, MYPN, TNNI3, TNNT2
7troponin T bindingGO:00310149.6TNNI3, TNNT1
8structural constituent of muscleGO:00083079.1MYBPC3, MYL3, TTN
9identical protein bindingGO:00428029.0CRYAB, DES, MYBPC3, TTN, TTR

Sources for Restrictive Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet