MCID: LFT003
MIFTS: 49

Left Ventricular Noncompaction malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Left Ventricular Noncompaction

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 11 47 24 53 26 13 67
Left Ventricular Hypertrabeculation 11 47 53
 
Lvnc 47 24 53
Spongy Myocardium 47 53

Characteristics:

Orphanet epidemiological data:

53
left ventricular noncompaction:
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology11 DOID:0060480
Orphanet53 ORPHA54260
UMLS via Orphanet68 C1960469
ICD10 via Orphanet30 I42.8

Summaries for Left Ventricular Noncompaction

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Disease Ontology:11 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.

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 MIB1 (Mindbomb E3 Ubiquitin Protein Ligase 1), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include heart and kidney, and related mouse phenotypes are growth/size/body region and homeostasis/metabolism.

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 88)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1e33.3MYH7, SCN5A, TPM1
2cardiomyopathy, dilated, 1c, with or without lvnc33.1ACTN2, DTNA, LDB3
3left ventricular noncompaction 1, with or without congenital heart defects12.5
4left ventricular noncompaction 812.2
5left ventricular noncompaction 1012.2
6left ventricular noncompaction 712.2
7left ventricular noncompaction 212.2
8left ventricular noncompaction 3, with or without dilated cardiomyopathy12.2
9barth syndrome11.4
10cardiomyopathy, dilated, 1r11.4
11cardiomyopathy, dilated, 1d11.4
12cardiomyopathy, dilated, 1aa, with or without lvnc11.1
13cardiomyopathy, dilated, 1a11.1
14cardiomyopathy10.7
15myl2-related familial hypertrophic cardiomyopathy10.7MYH7, SCN5A, TPM1
16scn5a-related dilated cardiomyopathy10.7MYH7, SCN5A, TPM1
17scn5a-related romano ward syndrome10.7MYH7, SCN5A, TPM1
18tpm2-related arthrogryposis multiplex congenita, distal, type 2b10.6MYH7, SCN5A, TPM1
19myopathy, x-linked, with excessive autophagy10.6DTNA, LDB3, TAZ
20frontotemporal dementia, right temporal atrophy variant10.6LDB3, LMNA, RYR2
21fixed pigmented erythema10.6LDB3, LMNA, RYR2
22ketamine-induced biliary dilatation10.6LDB3, LMNA, RYR2
23ventricular fibrillation, familial, 110.6RYR2, SCN5A
24cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome10.6ACTN2, CSRP3, MYH7, TAZ
25meige syndrome10.6ACTC1, MYBPC3, MYH7, TNNT2
26cardiomyopathy, familial hypertrophic10.5MYBPC3, MYH7, TNNT2
27cataract 16, multiple types10.5LDB3, MYH7
28sult4a1-related altered drug metabolism10.5MYBPC3, SCN5A, SNTA1
29symmastia10.5MYH7, SCN5A
30umbilical hernia10.5RYR2, SCN5A, TNNT2
31craniosynostosis10.5MYH7, SCN5A, TNNT2
32usher syndrome10.4ACTN2, LMNA, RYR2
33unverricht-lundborg syndrome10.4MYH7, RYR2
34atrial standstill, digenic10.3ACTN2, LMNA, MYBPC3, MYH7, SCN5A, TNNT2
35myopathy10.2
36dilated cardiomyopathy10.1
37peripartum cardiomyopathy10.1
38autoimmune disease of skin and connective tissue10.0ACTC1, CSRP3, LMNA, MYBPC3, MYH7, RYR2
39melancholia10.0RYR2, SCN5A, SNTA1
40double-orifice mitral valve10.0
41ulceroglandular tularemia10.0ACTC1, ACTN2, CSRP3, LMNA, MYBPC3, MYH7
42myocardial infarction9.9
43fabry disease9.9
44ebstein anomaly9.9
45pulmonary hypertension9.9
46brugada syndrome9.9
47atrioventricular block9.9
48atrial fibrillation9.9
49cardiac arrest9.9
50sensorineural hearing loss9.9

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
3Training-induced Increased Left Ventricular TrabeculationCompletedNCT02568072
4Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
5Prognosis of Isolated Left Ventricular Non-compaction in AdultsRecruitingNCT02885363
6Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
7German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263

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 Noncompaction26 24 ACTC1, DTNA, LDB3, MYH7, TNNT2, TPM1

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

35
Heart, Kidney

Animal Models for Left Ventricular Noncompaction or affiliated genes

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053789.7ACTC1, CSRP3, DTNA, HMGCL, LDB3, LMNA
2MP:00053769.6ACTC1, CSRP3, HMGCL, LDB3, LMNA, MIB1
3MP:00107689.5ACTC1, CSRP3, DTNA, HMGCL, LDB3, LMNA
4MP:00053859.4ACTC1, CSRP3, DTNA, HMGCL, LDB3, LMNA
5MP:00053698.8ACTC1, CSRP3, DTNA, LDB3, LMNA, MYBPC3

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50)    (show all 352)
idTitleAuthorsYear
1
Left Ventricular Noncompaction, or Is It? (27855807)
2016
2
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. (26777414)
2016
3
Left ventricular noncompaction cardiomyopathy in end-stage heart failure patients undergoing orthotopic heart transplantation. (27135206)
2016
4
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. (27609553)
2016
5
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
6
Letter by StAPllberger and Finsterer regarding article, "Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations". (25940970)
2015
7
Echocardiographic and histopathological diagnosis of left ventricular noncompaction. (25563624)
2014
8
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (25145517)
2014
9
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction. (25262865)
2014
10
Ischemic stroke in left ventricular noncompaction and celiac disease. (25086466)
2014
11
Left ventricular noncompaction - a case report. (25178616)
2014
12
Guiding the management of ventricular arrhythmias in patients with left ventricular noncompaction cardiomyopathy: a knowledge gap. (25290726)
2014
13
Left ventricular twist in left ventricular noncompaction. (23793875)
2014
14
Refinement of echocardiographic criteria for left ventricular noncompaction. (21944384)
2013
15
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. (23314057)
2013
16
Coexistence of left ventricular noncompaction and aortic interruption. (23724972)
2013
17
Three-dimensional echocardiography for the evaluation of left ventricular noncompaction. (22658560)
2012
18
Left ventricular noncompaction and aneurysm revealed by left ventriculography. (21954168)
2012
19
Three-dimensional echocardiographic characterization of patients with left ventricular noncompaction. (22154390)
2012
20
Left ventricular noncompaction. (22565075)
2012
21
Isolated left ventricular noncompaction in sub-Saharan Africa: a clinical and echocardiographic perspective. (22235038)
2012
22
Isolated left ventricular noncompaction cardiomyopathy diagnosed by transesophageal echocardiography. (21487457)
2011
23
Left ventricular noncompaction cardiomyopathy. (22218001)
2011
24
Implantable cardioverter defibrillator in a young child with left ventricular noncompaction. (21798475)
2011
25
Long-term follow-up of patients with isolated left ventricular noncompaction: role of electrocardiography in predicting poor outcome. (21617326)
2011
26
Left-ventricular noncompaction in a pediatric population: predictors of survival. (21188370)
2011
27
Histopathological features of delayed enhancement cardiovascular magnetic resonance in isolated left ventricular noncompaction. (21737026)
2011
28
Cardiac devices and neuromuscular disorders in left ventricular noncompaction. (21334754)
2011
29
Sudden unexpected death due to left ventricular noncompaction of myocardium: case report and review of the literature. (20032775)
2010
30
Left ventricular noncompaction: a new form of heart failure. (20869646)
2010
31
A rare case of coronary artery bypass grafting in a patient with left ventricular noncompaction. (21095365)
2010
32
Isolated left ventricular noncompaction syndrome. (19801037)
2009
33
Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis. (18255171)
2009
34
Replacement of a congenital bicuspid aortic valve in a patient with left ventricular noncompaction. (19568396)
2009
35
Images in cardiovascular medicine. Overlapping phenotypes: left ventricular noncompaction and hypertrophic cardiomyopathy. (19528341)
2009
36
Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy. (17729299)
2008
37
New classification scheme of left ventricular noncompaction and correlation with ventricular performance. (18572043)
2008
38
Sinus bradycardia, Wolff Parkinson White, and left ventricular noncompaction: an embryologic connection? (17786379)
2008
39
An unusual cause of cardioembolic stroke: isolated left ventricular noncompaction. (18332842)
2008
40
Left ventricular noncompaction or papillary muscle? (17700403)
2007
41
Reply to 'Left ventricular noncompaction or papillary muscle?'. (17700418)
2007
42
Comparison of regional systolic myocardial velocities in patients with isolated left ventricular noncompaction and patients with idiopathic dilated cardiomyopathy. (17543758)
2007
43
Sporadic isolated left ventricular noncompaction: dread disease or not? (17437566)
2007
44
Images in cardiovascular medicine. Isolated left ventricular noncompaction enhanced by echocontrast agent. (17646590)
2007
45
Left ventricular noncompaction cardiomyopathy in association with trisomy 13. (15549619)
2005
46
Left ventricular noncompaction: a pathological study of 14 cases. (15892002)
2005
47
Double-orifice mitral valve associated with nonisolated left ventricular noncompaction--a case report. (15547659)
2004
48
Do cypher gene mutations cause left ventricular noncompaction with subclinical myopathy? (15337232)
2004
49
Isolated left ventricular noncompaction in an adult. (12216935)
2002
50
Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. (10933363)
2000

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
610.0LMNA, RYR2, SCN5A
710.0ACTC1, LMNA, TNNT2, TPM1
89.8ACTC1, MYH7, RYR2, TNNT2, TPM1
99.8ACTC1, ACTN2, MYBPC3, TNNT2, TPM1
109.8RYR2, SCN5A, SNTA1, YWHAE
11
Show member pathways
9.7ACTC1, MYH7, RYR2, SCN5A, TNNT2, TPM1
12
Show member pathways
9.6ACTN2, MYBPC3, RYR2, SCN5A, TNNT2, TPM1

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
1myosin filamentGO:003298211.0MYH7, MYH7B
2pseudopodiumGO:003114310.8ACTN2, LDB3
3myofibrilGO:003001610.5MYH7, TNNT2, TPM1
4sarcolemmaGO:004238310.4DTNA, SCN5A, SNTA1
5sarcomereGO:003001710.2ACTC1, ACTN2, MYBPC3, MYH7, RYR2, TNNT2
6Z discGO:00300189.8ACTN2, CSRP3, LDB3, MYH7, RYR2, SCN5A
7cytoskeletonGO:00058569.7ACTN2, CSRP3, LDB3, SNTA1, TPM1
8cytosolGO:00058299.2ACTC1, ACTN2, LMNA, MIB1, MYBPC3, PRDM16

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of muscle contractionGO:000693710.7TNNT2, TPM1
2striated muscle contractionGO:000694110.7DTNA, MYH7
3regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6SCN5A, SNTA1
4cardiac myofibril assemblyGO:005500310.6ACTC1, CSRP3
5cardiac muscle tissue developmentGO:004873810.5CSRP3, TAZ
6regulation of the force of heart contractionGO:000202610.5CSRP3, MYH7
7sarcomere organizationGO:004521410.5ACTN2, LDB3, TPM1
8cardiac muscle hypertrophyGO:000330010.5CSRP3, RYR2
9regulation of sodium ion transmembrane transportGO:190230510.4SCN5A, SNTA1
10ventricular cardiac muscle cell action potentialGO:008600510.4RYR2, SCN5A, SNTA1
11ventricular cardiac muscle tissue morphogenesisGO:005501010.4MYBPC3, MYH7, TNNT2, TPM1
12positive regulation of ATPase activityGO:003278110.0MYBPC3, TNNT2, TPM1
13muscle filament slidingGO:00300499.9ACTC1, ACTN2, MYBPC3, MYH7, TNNT2, TPM1
14regulation of heart rateGO:00020279.9MYH7, RYR2, SCN5A, SNTA1
15muscle contractionGO:00069369.4ACTN2, MYH7, SNTA1, TAZ, TNNT2, TPM1
16cardiac muscle contractionGO:00600489.3ACTC1, CSRP3, MYBPC3, MYH7, RYR2, SCN5A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:003143210.9ACTN2, MYBPC3
2myosin bindingGO:001702210.7ACTC1, MYBPC3
3cytoskeletal protein bindingGO:000809210.6ACTN2, LDB3, TPM1
4nitric-oxide synthase bindingGO:005099810.6SCN5A, SNTA1
5calmodulin bindingGO:000551610.4MYH7, RYR2, SCN5A, SNTA1
6structural constituent of muscleGO:000830710.3ACTN2, CSRP3, MYBPC3, TPM1
7ion channel bindingGO:004432510.2ACTN2, RYR2, SCN5A, SNTA1, YWHAE
8actin bindingGO:000377910.1MYBPC3, MYH7, MYH7B, SNTA1, TNNT2, TPM1
9protein bindingGO:00055158.2ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1

Sources for Left Ventricular Noncompaction

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet