RCM
MCID: RST002
MIFTS: 50

Restrictive Cardiomyopathy (RCM) 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 24 25 27
Cardiomyopathy, Restrictive 25 27 39
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 lupus erythematosus 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 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 114)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus29.4TNNI3, TNNT1, TNNT2
2cardiomyopathy, familial restrictive, 312.3
3cardiomyopathy, familial restrictive, 112.3
4familial isolated restrictive cardiomyopathy12.1
5cardiomyopathy, familial restrictive, 212.0
6tnnt2-related familial restrictive cardiomyopathy11.9
7childhood restrictive cardiomyopathy11.9
8flnc-related familial restrictive cardiomyopathy11.9
9mypn-related familial restrictive cardiomyopathy11.9
10tnni3-related familial restrictive cardiomyopathy11.9
11cardiomyopathy, dilated, 1kk11.7
12loeffler endocarditis11.5
13familial amyloid cardiomyopathy11.1
14cardiomyopathy10.8
15pericarditis10.4
16constrictive pericarditis10.4
17proliferative fasciitis10.3MYH7, TNNT2
18oral erosive lichen10.2ACTC1, DES
19carbon monoxide-induced parkinsonism10.2ACTC1, DES
20vagina leiomyosarcoma10.2ACTC1, DES
21glomerulonephritis10.2TNNI3, TNNT2
22osteomyelitis10.2ACTC1, DES
23myoma10.2ACTC1, DES
24congenital myasthenic syndrome10.2ACTC1, DES
25spleen angiosarcoma10.2ACTC1, DES
26hirschsprung disease 310.2TNNI3, TTN
27malignant dermis tumor10.2ACTC1, DES
28urethral cancer10.2ACTC1, DES
29biemond syndrome10.2ACTC1, DES
30intestinal obstruction10.2ACTC1, DES
31isolated brachycephaly10.2MYPN, TNNI3, TNNT2
32male urethral cancer10.2ACTC1, DES
33osteogenesis imperfecta, type xvi10.2MYBPC3, TTN
34episodic ataxia10.2ACTC1, DES
35pustulosis palmaris et plantaris10.2ACTC1, DES
36mediastinum liposarcoma10.2ACTC1, DES
37cardiomyopathy, dilated, 1i10.2CRYAB, DES
38coronary stenosis10.2ACTC1, DES
39dyslexia10.2ACTC1, DES
40sebaceous adenoma10.2ACTC1, DES
41house allergic alveolitis10.2ACTC1, DES
42glomangioma10.2ACTC1, DES
43myositis fibrosa10.2TNNI3, TNNT2
44pfeiffer rockelein syndrome10.2MYH7, TTN
45omodysplasia 210.1ACTC1, DES
46tinea favosa10.1ACTC1, DES
47myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.1CRYAB, MYH7
48immunodeficiency 34, mycobacteriosis, x-linked10.1TNNI3, TNNT2, TTN
49t-cell childhood lymphoblastic lymphoma10.1ACTC1, DES
50lyme disease10.1DES, MYH7, TTN

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:00053858.6ACTC1, DES, MYBPC3, MYH7, TNNI3, TNNT2
2MP:00053696.8ACTC1, 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
1diuretics1418

Interventional clinical trials:

(show all 12)
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
4An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in ChinaRecruitingNCT03076580
5Metabolomic Study of All-age CardiomyopathyRecruitingNCT03061994
6Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
7Non-invasive Evaluation of Myocardial Stiffness by ElastographyRecruitingNCT02537041
8Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell DiseaseActive, not recruitingNCT02410811
9Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)Active, not recruitingNCT01873963
10Prognostic Factors , Morbidity and Mortality in Patients With Muscular Dystrophies Admitted in ICUActive, not recruitingNCT02685215
11Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac DiseaseNot yet recruitingNCT03098901
12Plasty 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 24
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, Skin, Thyroid

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
Diagnostic challenges in a long-term follow-up of hypereosinophilic restrictive cardiomyopathy. (27197008)
2016
3
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. (27266599)
2016
4
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. (26666891)
2016
5
Decompressive atrioseptostomy (DAS) for the treatment of severe pulmonary hypertension secondary to restrictive cardiomyopathy. (26599749)
2016
6
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. (27353145)
2016
7
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. (28031081)
2016
8
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. (27084525)
2016
9
Epidemiological and clinical features of the endomyocardial form of restrictive cardiomyopathy in cats: a review of 41 cases. (26822001)
2016
10
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. (27604170)
2016
11
Heart Transplantation Outcomes in Radiation-Induced Restrictive Cardiomyopathy. (27084524)
2016
12
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. (27662471)
2016
13
The paramount importance of repeated left ventricular endomyocardial biopsy during the diagnosis of restrictive cardiomyopathy due to AL cardiac amyloidosis. (27553348)
2016
14
Idiopathic Restrictive Cardiomyopathy IsA Primarily a GeneticA Disease. (27339502)
2016
15
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. (27837283)
2016
16
Pathological Features and Pathogenesis of the Endomyocardial Form of Restrictive Cardiomyopathy in Cats. (27392420)
2016
17
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
18
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
19
RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI). (28080919)
2016
20
Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. (28066262)
2016
21
Restrictive cardiomyopathy Troponin-I R145W mutation does not perturb myofilament length dependent activation in human cardiac sarcomeres. (27557662)
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
Mitral valve replacement for inflow obstruction of left ventricular assist device in a child with restrictive cardiomyopathy. (26453276)
2015
24
Case 4 - A 79-Year-Old Man with Congestive Heart Failure Due to Restrictive Cardiomyopathy. (26559991)
2015
25
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. (25813360)
2015
26
Regional left atrial function differentiation in patients with constrictive pericarditis and restrictive cardiomyopathy: a study using speckle tracking echocardiography. (26245471)
2015
27
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
28
Hypertrophic cardiomyopathy masquerading as infiltrative restrictive cardiomyopathy and refractory congestive failure-resolution with catheter ablation of atrial flutter - A case report. (26136635)
2015
29
Ventricular assistant in restrictive cardiomyopathy: Making the right connection. (26395050)
2015
30
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
31
Left atrial ball valve thrombus in restrictive cardiomyopathy and normal mitral valve: Loose cannon in heart. (26688155)
2015
32
Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing. (26163040)
2015
33
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
34
NT pro B type natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. (25820049)
2015
35
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
36
Restrictive cardiomyopathy in a patient presented with fever, vomiting, and consciousness disorder. (24745874)
2014
37
Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. (25541130)
2014
38
Diagnostic concordance of echocardiography and cardiac magnetic resonance-based tissue tracking for differentiating constrictive pericarditis from restrictive cardiomyopathy. (25107553)
2014
39
Atrial natriuretic factor type amyloid leading to restrictive cardiomyopathy. (24709207)
2014
40
LAPeffler endocarditis and restrictive cardiomyopathy with biventricular apical thrombi. (27278917)
2014
41
Titin mutation in familial restrictive cardiomyopathy. (24315344)
2014
42
Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene. (24474965)
2014
43
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. (25036271)
2014
44
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
45
Applicability of Published Guidelines for Assessment of Left Ventricular Diastolic Function in Adults to Children with Restrictive Cardiomyopathy: An Observational Study. (25193183)
2014
46
Biventricular mechanics in constrictive pericarditis comparison with restrictive cardiomyopathy and impact of pericardiectomy. (23532508)
2013
47
Restrictive cardiomyopathy mutations demonstrate functions of the C-terminal end-segment of troponin I. (24326031)
2013
48
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
49
Heart transplantation for all comers: improving outcomes for pediatric candidates with restrictive cardiomyopathy and congenital heart disease. (23608250)
2013
50
Pediatric heart transplantation for congenital and restrictive cardiomyopathy. (23561807)
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
1MYH7NM_ 000257.3(MYH7): c.1357C> T (p.Arg453Cys)SNVPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
2TNNT2NM_ 001001430.2(TNNT2): c.280C> T (p.Arg94Cys)SNVPathogenic/ Likely pathogenicrs727503513GRCh37Chr 1, 201334420: 201334420
3TNNI3NM_ 000363.4(TNNI3): c.508C> T (p.Arg170Trp)SNVPathogenic/ Likely pathogenicrs727503504GRCh37Chr 19, 55665439: 55665439
4TNNI3NM_ 000363.4(TNNI3): c.522G> C (p.Lys174Asn)SNVPathogenicrs730880231GRCh38Chr 19, 55154057: 55154057
5MYH7NM_ 000257.3(MYH7): c.2513C> T (p.Pro838Leu)SNVLikely pathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
6MT-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:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1contractile fiberGO:004329210.7DES, TNNI3
2cardiac Troponin complexGO:199058410.7TNNI3, TNNT2
3myosin filamentGO:003298210.3MYBPC3, MYH7
4myofibrilGO:003001610.2MYH7, TNNI3, TNNT2
5A bandGO:00316729.9MYBPC3, MYL3
6troponin complexGO:00058619.8TNNI3, TNNT1, TNNT2
7M bandGO:00314309.6CRYAB, MYBPC3, TTN
8muscle myosin complexGO:00058599.5MYH7, MYL3, TTN
9cardiac myofibrilGO:00975129.4CRYAB, DES, MYBPC3, TNNI3, TNNT2
10I bandGO:00316748.6ACTC1, CRYAB, MYL3, MYPN, TTN
11Z discGO:00300188.1CRYAB, DES, MYBPC3, MYH7, MYPN, TTN
12sarcomereGO:00300178.1ACTC1, MYBPC3, MYH7, MYL3, MYPN, TNNI3
13cytosolGO:00058296.8ACTC1, CRYAB, DES, MYBPC3, MYL3, TNNI3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:003278010.5TNNI3, TNNT2
2heart contractionGO:006004710.4ACTC1, TNNI3
3regulation of heart contractionGO:000801610.4DES, TNNT2
4cardiac muscle fiber developmentGO:004873910.3MYPN, TTN
5cardiac muscle tissue morphogenesisGO:005500810.2ACTC1, TTN
6cardiac myofibril assemblyGO:005500310.2ACTC1, TTN
7skeletal muscle thin filament assemblyGO:003024010.0ACTC1, TTN
8transition between fast and slow fiberGO:001488310.0MYH7, TNNT1
9regulation of the force of heart contractionGO:00020269.9MYH7, MYL3
10regulation of muscle contractionGO:00069379.8TNNI3, TNNT1, TNNT2
11skeletal muscle contractionGO:00030099.8MYH7, TNNI3, TNNT1
12regulation of striated muscle contractionGO:00069429.7MYBPC3, MYL3
13sarcomere organizationGO:00452149.6MYBPC3, MYPN, TTN
14positive regulation of ATPase activityGO:00327819.4MYBPC3, MYL3, TNNT2
15striated muscle contractionGO:00069419.3MYBPC3, MYH7, TNNI3, TTN
16muscle contractionGO:00069369.2CRYAB, DES, MYH7, TNNT2, TTN
17ventricular cardiac muscle tissue morphogenesisGO:00550108.3MYBPC3, MYH7, MYL3, TNNI3, TNNT2
18cardiac muscle contractionGO:00600488.0ACTC1, MYBPC3, MYH7, MYL3, TNNI3, TNNT2
19muscle filament slidingGO:00300497.0ACTC1, DES, MYBPC3, MYH7, MYL3, TNNI3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:000809210.1CRYAB, DES, MYPN
2myosin bindingGO:001702210.0ACTC1, MYBPC3
3troponin C bindingGO:00301729.9TNNI3, TNNT2
4actin bindingGO:00037799.8MYBPC3, MYH7, TNNI3, TNNT2
5structural molecule activity conferring elasticityGO:00974939.8MYBPC3, TTN
6tropomyosin bindingGO:00055239.7TNNT1, TNNT2
7muscle alpha-actinin bindingGO:00513719.6MYBPC3, MYPN, TTN
8troponin T bindingGO:00310149.6TNNI3, TNNT1
9actin filament bindingGO:00510159.6MYBPC3, MYPN, TNNI3, TTN
10structural constituent of muscleGO:00083079.0MYBPC3, MYL3, TTN
11identical protein bindingGO:00428028.9CRYAB, 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