MCID: LFT003
MIFTS: 50

Left Ventricular Noncompaction malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Left Ventricular Noncompaction

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 10 45 22 12 51 24 65
Left Ventricular Hypertrabeculation 10 45 51
 
Lvnc 45 22 51
Spongy Myocardium 45 51

Characteristics:

Orphanet epidemiological data:

51
left ventricular noncompaction:
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology10 DOID:0060480
Orphanet51 54260
UMLS via Orphanet66 C1960469
ICD10 via Orphanet28 I42.8
UMLS65 C1960469

Summaries for Left Ventricular Noncompaction

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NIH Rare Diseases:45 Left ventricular noncompaction (lvnc) is a rare heart condition. in lvnc the inside wall of the heart is spongy or grooved, instead of smooth. signs and symptoms of lvnc vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. in rare cases, heart transplantation is needed. last updated: 12/29/2013

MalaCards based summary: Left Ventricular Noncompaction, also known as left ventricular hypertrabeculation, is related to cardiomyopathy, dilated, 1e and cardiomyopathy, dilated, 1c, with or without lvnc. An important gene associated with Left Ventricular Noncompaction is PRDM16 (PR Domain 16), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include heart, liver and endothelial, and related mouse phenotypes are normal and homeostasis/metabolism.

Disease Ontology:10 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.

Related Diseases for Left Ventricular Noncompaction

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Diseases in the Left Ventricular Noncompaction family:

Left Ventricular Noncompaction 8 Left Ventricular Noncompaction 2
Left Ventricular Noncompaction 10 Left Ventricular Noncompaction 7

Diseases related to Left Ventricular Noncompaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 280)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1e34.0MYH7, SCN5A, TPM1
2cardiomyopathy, dilated, 1c, with or without lvnc33.7ACTN2, DTNA, LDB3
3left ventricular noncompaction 1, with or without congenital heart defects12.9
4left ventricular noncompaction 812.7
5left ventricular noncompaction 1012.7
6left ventricular noncompaction 712.7
7left ventricular noncompaction 212.7
8left ventricular noncompaction 3, with or without dilated cardiomyopathy12.7
9cardiomyopathy, dilated, 1aa, with or without lvnc12.4
10cardiomyopathy, dilated, 1r11.9
11cardiomyopathy, dilated, 1d11.9
12cardiomyopathy, dilated, 1a10.6
13barth syndrome10.6
14myh7-related familial hypertrophic cardiomyopathy10.6MYH7, SCN5A, TPM1
15scn5a-related brugada syndrome10.6MYH7, SCN5A, TPM1
16scn5a-related familial atrial fibrillation10.6MYH7, SCN5A, TPM1
17epsilon-trimethyllysine hydroxylase deficiency10.5DTNA, LDB3, TAZ
18familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.5LDB3, LMNA, RYR2
19frontotemporal dementia, right temporal atrophy variant10.5LDB3, LMNA, RYR2
20mitf-related melanoma and renal cell carcinoma predisposition syndrome10.5LDB3, LMNA, RYR2
21cylindrical spirals myopathy10.5LMNA, MYH7, TPM1
22porokeratotic eccrine ostial and dermal duct nevus10.5HCN4, SCN5A
23ventricular tachycardia, catecholaminergic polymorphic, 210.5RYR2, SCN5A
24ventricular tachycardia, catecholaminergic polymorphic, 110.5RYR2, SCN5A
25sulfate transporter-related osteochondrodysplasia10.5MYBPC3, MYH7, SCN5A, TPM1
26endomyocardial fibrosis10.5ACTN2, CSRP3, MYH7, TAZ
27endocardium disease10.4HCN4, RYR2, SCN5A
28lung cancer10.4
29hepatitis10.4
30leukemia10.4
31pancreatitis10.4
32endotheliitis10.4
33first-degree atrioventricular block10.4HCN4, LMNA, SCN5A
34cardiomyopathy, familial hypertrophic10.4ACTC1, MYBPC3, MYH7, TNNT2
35extrinsic cardiomyopathy10.4MYBPC3, MYH7, TNNT2, TPM1
36long qt syndrome 1410.4RYR2, SCN5A
37rheumatoid arthritis10.4
38breast cancer10.4
39arthritis10.4
40lymphoma10.4
41cervicitis10.4
42neuronitis10.4
43cataract 16, multiple types10.4LDB3, MYH7
44asperger syndrome10.4ACTN2, LMNA, RYR2
45prostate squamous cell carcinoma10.4HCN4, RYR2, SCN5A, TNNT2
46spinal canal and spinal cord meningioma10.4MYH7, RYR2, SCN5A, TNNT2
47neovascular glaucoma10.4MYH7, RYR2, TAZ, TNNT2
48inguinal hernia10.3RYR2, SCN5A, TNNT2
49atherosclerosis10.3
50prostatitis10.3

Graphical network of the top 20 diseases related to Left Ventricular Noncompaction:



Diseases related to left ventricular noncompaction

Symptoms for Left Ventricular Noncompaction

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Drugs & Therapeutics for Left Ventricular Noncompaction

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction CardiomyopathyCompletedNCT01481298
2Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compactionCompletedNCT01470014
3Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
4Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
5German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
6Training-induced Increased Left Ventricular TrabeculationActive, not recruitingNCT02568072

Search NIH Clinical Center for Left Ventricular Noncompaction

Genetic Tests for Left Ventricular Noncompaction

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Genetic tests related to Left Ventricular Noncompaction:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction22 DTNA, LDB3, ACTC1, MYH7, TNNT2, TPM1

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

33
Heart, Liver, Endothelial, Thyroid, B cells, Breast, Pituitary

Animal Models for Left Ventricular Noncompaction or affiliated genes

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.6ACTC1, HCN4, LMNA, MIB1, PRDM16, RYR2
2MP:00053768.8ACTC1, CSRP3, HCN4, LDB3, LMNA, MIB1
3MP:00107688.7ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
4MP:00053698.6ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
5MP:00053858.5ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
6MP:00053788.5ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50)    (show all 322)
idTitleAuthorsYear
1
Spontaneous cerebrospinal fluid leak at the clivus. (26865899)
2016
2
Congenital atresia of the inferior vena cava and antithrombin III deficiency in a young adult: compounding risk factors for deep vein thrombosis. (25628315)
2015
3
Validation of the Toronto Psoriatic Arthritis Screen Version 2 (ToPAS 2). (25834198)
2015
4
Impact of clinical risk scores and BRAF V600E mutation status on outcome in papillary thyroid cancer. (25482468)
2015
5
Impact of donor mismatches at individual HLA-A, -B, -C, -DR, and -DQ loci on the development of HLA-specific antibodies in patients listed for repeat renal transplantation. (24717292)
2014
6
Malignant cardioinhibitory vasovagal syncope - an uncommon cardiovascular complication of Roux-en-Y gastric bypass surgery: the fainting syndrome! (23063207)
2013
7
Sirtuin-7 inhibits the activity of hypoxia-inducible factors. (23750001)
2013
8
Unliganded progesterone receptor-mediated targeting of an RNA-containing repressive complex silences a subset of hormone-inducible genes. (23699411)
2013
9
Association between SUMO4 polymorphisms and type 2 diabetes mellitus]. (22425950)
2012
10
A flow cytometry-based assay for quantifying non-plaque forming strains of yellow fever virus. (23028428)
2012
11
Comment on "The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea". (23049434)
2012
12
Upregulation of Toll-like receptors (TLRs) 6, 7, and 8 in keloid scars. (21677671)
2011
13
Impact of cytochrome P450 2C19*2 polymorphism on intra-stent thrombus after drug-eluting stent implantation in Japanese patients receiving clopidogrel. (21099121)
2011
14
Genetic polymorphism in the 3'-untranslated region of the E-cadherin gene is associated with risk of different cancers. (21432908)
2011
15
Coagulation factors II, V, IX, X, XI, and XII, plasminogen, and alpha-2 antiplasmin and risk of coronary heart disease. (20379055)
2010
16
Rapid multiplex real-time PCR by molecular beacons for different BRAF allele detection in papillary thyroid carcinoma. (20186005)
2010
17
CTLA4 CT60 A/G gene polymorphism in liver transplant recipients. (20716038)
2010
18
Serum angiogenic factors in patients with neuroendocrine tumors of abdominal organs. (20396759)
2009
19
Tumor-specific cytotoxicity and type of cell death induced by benzo[b]cyclohept[e][1,4]oxazine and 2-aminotropone derivatives. (19414354)
2009
20
BRAF, NRAS and HRAS mutations in spitzoid tumours and their possible pathogenetic significance. (19438459)
2009
21
Thrombotic thrombocytopenic purpura associated with severe acute pancreatitis in a context of decreased ADAMTS13 activity: a case report. (18989146)
2008
22
Distinct molecular composition of blood and lymphatic vascular endothelial cell junctions establishes specific functional barriers within the peripheral lymph node. (18629939)
2008
23
Altered expression of Smad proteins in T or NK-cell lymphomas. (19688130)
2008
24
Imaging kidney in conscious rats with high-frequency ultrasound and detection of two cases of unilateral congenital hydronephrosis. (17188800)
2007
25
Breast cancer incidence in a cohort of women with benign breast disease from a multiethnic, primary health care population. (17319851)
2007
26
Measurements of desmosine and isodesmosine by mass spectrometry in COPD. (17494786)
2007
27
Emerging drugs for postoperative ileus. (17979603)
2007
28
Epstein-Barr virus latency switch in human B-cells: a physico-chemical model. (17764547)
2007
29
The antineoplastic agent bryostatin-1 differentially regulates IFN-gamma receptor subunits in monocytic cells: transcriptional and posttranscriptional control of IFN-gamma R2. (16888033)
2006
30
Evolutionary conservation of alternative activation of macrophages: structural and functional characterization of arginase 1 and 2 in carp (Cyprinus carpio L.). (16257446)
2006
31
Association of alcohol-metabolizing genes with alcoholism in a Mexican Indian (Otomi) population. (17134659)
2006
32
Steroid-resistant nephrotic syndrome and NPHS2 gene]. (15833180)
2005
33
Autoantibodies to RNA-polymerases in Italian patients with systemic sclerosis. (12846047)
2003
34
Long-term suppression of pituitary-gonadal function with three-month depot of leuprorelin acetate in a girl with central precocious puberty. (12446994)
2002
35
Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population. (11980626)
2002
36
Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma. (11349227)
2001
37
Sarcoidosis and IL18. (11580219)
2001
38
Insulin and somatostatin releasing islet cell tumor caused hypoglycemia. (11334393)
2001
39
Visualization of annexin I binding to calcium-induced phosphatidylserine domains. (11828493)
2001
40
Bioaffinity extraction of glucoamylase in aqueous two-phase systems using starch as free bioligand. (10942292)
2000
41
Intractable meningitis and intracranial abscess following sinusitis due to Candida species. (9787599)
1998
42
The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. (9463366)
1998
43
An amphotropic retroviral vector expressing a mutant gsp oncogene: effects on human thyroid cells in vitro. (9253357)
1997
44
Treatment of severe cervicofacial hemangioma with interferon alpha-2b]. (7742908)
1995
45
Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding. (1478654)
1992
46
Human placenta constitutively produces interleukin-8 during pregnancy and enhances its production in intrauterine infection. (1391327)
1992
47
Serotonin metabolism in the arthus reaction. (2136904)
1990
48
Olfactory neuroblastoma. Chemotherapy and radiotherapy for extensive disease. (6541469)
1984
49
Corneal edema. (7239818)
1981
50

Variations for Left Ventricular Noncompaction

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Expression for genes affiliated with Left Ventricular Noncompaction

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Search GEO for disease gene expression data for Left Ventricular Noncompaction.

Pathways for genes affiliated with Left Ventricular Noncompaction

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Pathways related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
110.3MYH7, MYH7B
210.2DTNA, SNTA1
310.1ACTN2, MYH7, MYH7B
410.1MYH7, MYH7B, YWHAE
510.1ACTC1, SCN5A, TNNT2
69.8ACTC1, MYH7, RYR2, TNNT2, TPM1
79.8ACTC1, ACTN2, MYBPC3, TNNT2, TPM1
89.8HCN4, LMNA, RYR2, SCN5A
99.8RYR2, SCN5A, SNTA1, YWHAE
10
Show member pathways
9.7ACTC1, MYH7, RYR2, SCN5A, TNNT2, TPM1
11
Show member pathways
9.6ACTN2, MYBPC3, RYR2, SCN5A, TNNT2, TPM1
12
Show member pathways
9.4ACTC1, ACTN2, LMNA, MYBPC3, MYH7, RYR2

GO Terms for genes affiliated with Left Ventricular Noncompaction

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Cellular components related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:003001610.7TNNT2, TPM1
2cytosolGO:00058299.5ACTC1, LMNA, MYBPC3, RYR2, TAZ, TNNT2

Biological processes related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6SCN5A, SNTA1
2SA node cell action potentialGO:008601510.6HCN4, SCN5A
3cardiac myofibril assemblyGO:005500310.5ACTC1, CSRP3
4ventricular cardiac muscle cell action potentialGO:008600510.5RYR2, SCN5A, SNTA1
5muscle filament slidingGO:003004910.4ACTC1, MYBPC3, MYH7
6muscle contractionGO:000693610.2HCN4, TAZ, TPM1
7positive regulation of ATPase activityGO:003278110.1MYBPC3, TNNT2, TPM1
8regulation of heart rate by cardiac conductionGO:008609110.1HCN4, SCN5A, YWHAE
9cardiac muscle contractionGO:00600489.9RYR2, TAZ, TNNT2, TPM1
10ion transportGO:00068119.7HCN4, RYR2, SCN5A

Molecular functions related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:000809210.7ACTN2, LDB3
2voltage-gated sodium channel activityGO:000524810.6HCN4, SCN5A
3motor activityGO:000377410.4MYH7, MYH7B
4actin bindingGO:000377910.0MYBPC3, MYH7B, TNNT2, TPM1

Sources for Left Ventricular Noncompaction

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet