MCID: LFT003
MIFTS: 48

Left Ventricular Noncompaction malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Left Ventricular Noncompaction

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 11 46 23 13 52 25 66
Left Ventricular Hypertrabeculation 11 46 52
 
Lvnc 46 23 52
Spongy Myocardium 46 52

Characteristics:

Orphanet epidemiological data:

52
left ventricular noncompaction:
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology11 DOID:0060480
Orphanet52 ORPHA54260
UMLS via Orphanet67 C1960469
ICD10 via Orphanet29 I42.8

Summaries for Left Ventricular Noncompaction

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NIH Rare Diseases:46 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/SET Domain 16), 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 normal and muscle.

Disease Ontology:11 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1e33.8MYH7, SCN5A, TPM1
2cardiomyopathy, dilated, 1c, with or without lvnc33.4ACTN2, DTNA, LDB3
3left ventricular noncompaction 1, with or without congenital heart defects12.5
4left ventricular noncompaction 812.3
5left ventricular noncompaction 1012.3
6left ventricular noncompaction 712.3
7left ventricular noncompaction 212.3
8left ventricular noncompaction 3, with or without dilated cardiomyopathy12.3
9cardiomyopathy, dilated, 1aa, with or without lvnc12.0
10cardiomyopathy, dilated, 1r11.5
11cardiomyopathy, dilated, 1d11.5
12myl2-related familial hypertrophic cardiomyopathy10.8MYH7, SCN5A, TPM1
13scn5a-related dilated cardiomyopathy10.8MYH7, SCN5A, TPM1
14scn5a-related romano ward syndrome10.8MYH7, SCN5A, TPM1
15barth syndrome10.8
16tpm2-related arthrogryposis multiplex congenita, distal, type 2b10.8MYH7, SCN5A, TPM1
17cardiomyopathy10.8
18myopathy, x-linked, with excessive autophagy10.8DTNA, LDB3, TAZ
19ventricular fibrillation, familial, 110.8RYR2, SCN5A
20frontotemporal dementia, right temporal atrophy variant10.8LDB3, LMNA, RYR2
21benign infantile seizures associated to mild gastroenteritis10.8HCN4, SCN5A
22fixed pigmented erythema10.8LDB3, LMNA, RYR2
23ketamine-induced biliary dilatation10.7LDB3, LMNA, RYR2
24second-degree atrioventricular block10.7HCN4, LMNA, SCN5A
25sult4a1-related altered drug metabolism10.7MYBPC3, SCN5A, SNTA1
26cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome10.7ACTN2, CSRP3, MYH7, TAZ
27symmastia10.7MYH7, SCN5A
28meige syndrome10.7ACTC1, MYBPC3, MYH7, TNNT2
29sinoatrial node disease10.6HCN4, LMNA
30cardiomyopathy, familial hypertrophic10.6MYBPC3, MYH7, TNNT2
31craniosynostosis10.6MYH7, SCN5A, TNNT2
32prostate malignant phyllodes tumor10.6HCN4, RYR2, SCN5A
33umbilical hernia10.6RYR2, SCN5A, TNNT2
34unverricht-lundborg syndrome10.6MYH7, RYR2
35usher syndrome10.5ACTN2, LMNA, RYR2
36tricuspid valve disease10.5HCN4, SCN5A
37cornelia de lange syndrome10.5LDB3, MYH7
38melancholia10.5HCN4, RYR2, SCN5A, SNTA1
39atrial standstill, digenic10.4ACTN2, LMNA, MYBPC3, MYH7, SCN5A, TNNT2
40hypertrophic cardiomyopathy10.4
41myopathy10.3
42cataract 16, multiple types10.3LDB3, MYH7
43dilated cardiomyopathy10.2
44peripartum cardiomyopathy10.2
45cardiomyopathy, dilated, 1a10.2
46double-orifice mitral valve10.1
47autoimmune disease of skin and connective tissue10.0ACTC1, CSRP3, LMNA, MYBPC3, MYH7, RYR2
48myocardial infarction10.0
49fabry disease10.0
50ebstein anomaly10.0

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
4Prognosis of Isolated Left Ventricular Non-compaction in AdultsRecruitingNCT02885363
5Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
6German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
7Training-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 Noncompaction25 23 ACTC1, DTNA, LDB3, MYH7, TNNT2, TPM1

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

34
Heart, Kidney

Animal Models for Left Ventricular Noncompaction or affiliated genes

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.0ACTC1, HCN4, LMNA, MIB1, PRDM16, RYR2
2MP:00053698.7ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
3MP:00107688.6ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
4MP:00053858.5ACTC1, 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 340)
idTitleAuthorsYear
1
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. (26777414)
2016
2
Left ventricular noncompaction cardiomyopathy in end-stage heart failure patients undergoing orthotopic heart transplantation. (27135206)
2016
3
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. (27609553)
2016
4
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
5
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
6
Echocardiographic and histopathological diagnosis of left ventricular noncompaction. (25563624)
2014
7
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (25145517)
2014
8
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction. (25262865)
2014
9
Ischemic stroke in left ventricular noncompaction and celiac disease. (25086466)
2014
10
Left ventricular noncompaction - a case report. (25178616)
2014
11
Guiding the management of ventricular arrhythmias in patients with left ventricular noncompaction cardiomyopathy: a knowledge gap. (25290726)
2014
12
Left ventricular twist in left ventricular noncompaction. (23793875)
2014
13
Refinement of echocardiographic criteria for left ventricular noncompaction. (21944384)
2013
14
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. (23314057)
2013
15
Coexistence of left ventricular noncompaction and aortic interruption. (23724972)
2013
16
Three-dimensional echocardiography for the evaluation of left ventricular noncompaction. (22658560)
2012
17
Left ventricular noncompaction and aneurysm revealed by left ventriculography. (21954168)
2012
18
Three-dimensional echocardiographic characterization of patients with left ventricular noncompaction. (22154390)
2012
19
Left ventricular noncompaction. (22565075)
2012
20
Isolated left ventricular noncompaction in sub-Saharan Africa: a clinical and echocardiographic perspective. (22235038)
2012
21
Isolated left ventricular noncompaction cardiomyopathy diagnosed by transesophageal echocardiography. (21487457)
2011
22
Left ventricular noncompaction cardiomyopathy. (22218001)
2011
23
Implantable cardioverter defibrillator in a young child with left ventricular noncompaction. (21798475)
2011
24
Long-term follow-up of patients with isolated left ventricular noncompaction: role of electrocardiography in predicting poor outcome. (21617326)
2011
25
Left-ventricular noncompaction in a pediatric population: predictors of survival. (21188370)
2011
26
Histopathological features of delayed enhancement cardiovascular magnetic resonance in isolated left ventricular noncompaction. (21737026)
2011
27
Cardiac devices and neuromuscular disorders in left ventricular noncompaction. (21334754)
2011
28
Sudden unexpected death due to left ventricular noncompaction of myocardium: case report and review of the literature. (20032775)
2010
29
Left ventricular noncompaction: a new form of heart failure. (20869646)
2010
30
A rare case of coronary artery bypass grafting in a patient with left ventricular noncompaction. (21095365)
2010
31
Isolated left ventricular noncompaction syndrome. (19801037)
2009
32
Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis. (18255171)
2009
33
Replacement of a congenital bicuspid aortic valve in a patient with left ventricular noncompaction. (19568396)
2009
34
Images in cardiovascular medicine. Overlapping phenotypes: left ventricular noncompaction and hypertrophic cardiomyopathy. (19528341)
2009
35
Myopathy, left ventricular noncompaction, and tetralogy of fallot. (19816976)
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
310.1MYH7, MYH7B, YWHAE
410.0ACTC1, SCN5A, TNNT2
510.0ACTC1, LMNA, TNNT2, TPM1
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
9.6ACTC1, 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
1myosin filamentGO:003298210.9MYH7, MYH7B
2pseudopodiumGO:003114310.6ACTN2, LDB3
3myofibrilGO:003001610.3MYH7, TNNT2, TPM1
4sarcolemmaGO:004238310.2DTNA, SCN5A, SNTA1
5sarcomereGO:003001710.0ACTC1, ACTN2, MYBPC3, MYH7, RYR2, TNNT2
6Z discGO:00300189.8ACTN2, CSRP3, LDB3, MYH7, RYR2, SCN5A
7cytoskeletonGO:00058569.7ACTN2, CSRP3, LDB3, SNTA1, TPM1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1regulation of muscle contractionGO:000693710.7TNNT2, TPM1
2striated muscle contractionGO:000694110.7DTNA, MYH7
3SA node cell action potentialGO:008601510.6HCN4, SCN5A
4regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6SCN5A, SNTA1
5cardiac myofibril assemblyGO:005500310.6ACTC1, CSRP3
6regulation of cardiac muscle contractionGO:005511710.5HCN4, RYR2
7regulation of the force of heart contractionGO:000202610.5CSRP3, MYH7
8cardiac muscle tissue developmentGO:004873810.5CSRP3, TAZ
9regulation of postsynaptic membrane potentialGO:006007810.5HCN4, SCN5A
10cardiac muscle hypertrophyGO:000330010.5CSRP3, RYR2
11sarcomere organizationGO:004521410.5ACTN2, LDB3, TPM1
12ventricular cardiac muscle cell action potentialGO:008600510.4RYR2, SCN5A, SNTA1
13regulation of sodium ion transmembrane transportGO:190230510.4SCN5A, SNTA1
14ventricular cardiac muscle tissue morphogenesisGO:005501010.4MYBPC3, MYH7, TNNT2, TPM1
15positive regulation of ATPase activityGO:003278110.0MYBPC3, TNNT2, TPM1
16regulation of heart rate by cardiac conductionGO:00860919.9HCN4, SCN5A, YWHAE
17muscle filament slidingGO:00300499.9ACTC1, ACTN2, MYBPC3, MYH7, TNNT2, TPM1
18regulation of heart rateGO:00020279.6HCN4, MYH7, RYR2, SCN5A, SNTA1
19cardiac muscle contractionGO:00600489.4ACTC1, CSRP3, MYBPC3, MYH7, RYR2, SCN5A
20muscle contractionGO:00069369.1ACTN2, HCN4, MYH7, SNTA1, TAZ, TNNT2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:003143210.7ACTN2, MYBPC3
2voltage-gated sodium channel activityGO:000524810.6HCN4, SCN5A
3myosin bindingGO:001702210.4ACTC1, MYBPC3
4cytoskeletal protein bindingGO:000809210.3ACTN2, LDB3, TPM1
5calmodulin bindingGO:000551610.2MYH7, RYR2, SCN5A, SNTA1
6structural constituent of muscleGO:000830710.0ACTN2, CSRP3, MYBPC3, TPM1
7ion channel bindingGO:00443259.9ACTN2, RYR2, SCN5A, SNTA1, YWHAE
8nitric-oxide synthase bindingGO:00509989.8SCN5A, SNTA1
9actin bindingGO:00037799.7MYBPC3, MYH7, MYH7B, SNTA1, TNNT2, TPM1

Sources for Left Ventricular Noncompaction

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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