MCID: LFT003
MIFTS: 49

Left Ventricular Noncompaction malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Left Ventricular Noncompaction

About this section
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

About this section
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, lung and t cells, 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

About this section

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 99)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1e33.8MYH7, SCN5A, TPM1
2cardiomyopathy, dilated, 1c, with or without lvnc33.5ACTN2, DTNA, LDB3
3endomyocardial fibrosis30.8ACTN2, CSRP3, MYH7, TAZ
4becker muscular dystrophy30.3DTNA, SNTA1, TNNT2
5left ventricular noncompaction 1, with or without congenital heart defects12.5
6left ventricular noncompaction 812.3
7left ventricular noncompaction 1012.3
8left ventricular noncompaction 712.3
9left ventricular noncompaction 212.3
10left ventricular noncompaction 3, with or without dilated cardiomyopathy12.3
11cardiomyopathy, dilated, 1aa, with or without lvnc12.0
12cardiomyopathy, dilated, 1r11.5
13cardiomyopathy, dilated, 1d11.5
14myh7-related familial hypertrophic cardiomyopathy10.9MYH7, SCN5A, TPM1
15scn5a-related brugada syndrome10.9MYH7, SCN5A, TPM1
16scn5a-related familial atrial fibrillation10.9MYH7, SCN5A, TPM1
17barth syndrome10.8
18epsilon-trimethyllysine hydroxylase deficiency10.8DTNA, LDB3, TAZ
19cardiomyopathy10.8
20familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.8LDB3, LMNA, RYR2
21frontotemporal dementia, right temporal atrophy variant10.8LDB3, LMNA, RYR2
22mitf-related melanoma and renal cell carcinoma predisposition syndrome10.8LDB3, LMNA, RYR2
23cylindrical spirals myopathy10.8LMNA, MYH7, TPM1
24porokeratotic eccrine ostial and dermal duct nevus10.8HCN4, SCN5A
25ventricular tachycardia, catecholaminergic polymorphic, 210.7RYR2, SCN5A
26ventricular tachycardia, catecholaminergic polymorphic, 110.7RYR2, SCN5A
27sulfate transporter-related osteochondrodysplasia10.7MYBPC3, MYH7, SCN5A, TPM1
28endocardium disease10.7HCN4, RYR2, SCN5A
29first-degree atrioventricular block10.7HCN4, LMNA, SCN5A
30cardiomyopathy, familial hypertrophic10.6ACTC1, MYBPC3, MYH7, TNNT2
31extrinsic cardiomyopathy10.6MYBPC3, MYH7, TNNT2, TPM1
32long qt syndrome 1410.6RYR2, SCN5A
33cataract 16, multiple types10.6LDB3, MYH7
34asperger syndrome10.6ACTN2, LMNA, RYR2
35prostate squamous cell carcinoma10.6HCN4, RYR2, SCN5A, TNNT2
36spinal canal and spinal cord meningioma10.6MYH7, RYR2, SCN5A, TNNT2
37neovascular glaucoma10.6MYH7, RYR2, TAZ, TNNT2
38inguinal hernia10.5RYR2, SCN5A, TNNT2
39sudden infant death syndrome10.5MT-ND1, RYR2, SCN5A, SNTA1
40bruxism10.4RYR2, SCN5A, SNTA1
41hypertrophic cardiomyopathy10.4
42myopathy10.3
43hole retinal cyst10.3HCN4, SCN5A
44dilated cardiomyopathy10.2
45peripartum cardiomyopathy10.2
46cardiomyopathy, dilated, 1a10.2
47double-orifice mitral valve10.1
48specific developmental disorder10.0ACTC1, CSRP3, LMNA, MYBPC3, MYH7, RYR2
49myocardial infarction10.0
50fabry disease10.0

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



Diseases related to left ventricular noncompaction

Symptoms for Left Ventricular Noncompaction

About this section

Drugs & Therapeutics for Left Ventricular Noncompaction

About this section

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

About this section

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

About this section

MalaCards organs/tissues related to Left Ventricular Noncompaction:

33
Heart, Lung, T cells, Prostate, Thyroid, Pituitary, Endothelial

Animal Models for Left Ventricular Noncompaction or affiliated genes

About this section

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

About this section

Articles related to Left Ventricular Noncompaction:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report. (27138316)
2016
2
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. (26777414)
2016
3
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
4
Cesarean Delivery in a Parturient with Left Ventricular Noncompaction Complicated by Acute Pulmonary Hypertension After Methylergonovine Administration for Postpartum Hemorrhage. (26050249)
2015
5
A novel MYH7 gene mutation in a fetus with left ventricular noncompaction. (25547560)
2015
6
Left ventricular noncompaction and athletes: looking for stratification criteria. (25560945)
2015
7
Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation. (25444217)
2014
8
Echocardiographic and histopathological diagnosis of left ventricular noncompaction. (25563624)
2014
9
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (25145517)
2014
10
Possible link between right ventricular coronary sinusoids and noncompaction sinusoids in pulmonary atresia with intact ventricular septum patients that later develop left ventricular noncompaction. (24767937)
2014
11
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction. (25262865)
2014
12
Ischemic stroke in left ventricular noncompaction and celiac disease. (25086466)
2014
13
Left ventricular noncompaction - a case report. (25178616)
2014
14
Adult left ventricular noncompaction: reappraisal of current diagnostic imaging modalities. (25496545)
2014
15
Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC). (23843320)
2013
16
Refinement of echocardiographic criteria for left ventricular noncompaction. (21944384)
2013
17
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. (23314057)
2013
18
Focal left atrial tachycardia in a patient with left ventricular noncompaction. (23762071)
2013
19
Three-dimensional echocardiography for the evaluation of left ventricular noncompaction. (22658560)
2012
20
Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction. (22036106)
2012
21
Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction. (22929165)
2012
22
Left ventricular noncompaction and aneurysm revealed by left ventriculography. (21954168)
2012
23
Left ventricular noncompaction: a proposal of new diagnostic criteria by multidetector computed tomography. (22981859)
2012
24
Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa. (22991407)
2012
25
Isolated left ventricular noncompaction in a 90-year-old man. (22740746)
2012
26
Three-dimensional echocardiographic characterization of patients with left ventricular noncompaction. (22154390)
2012
27
Isolated left ventricular noncompaction cardiomyopathy diagnosed by transesophageal echocardiography. (21487457)
2011
28
Electrocardiographic findings at initial diagnosis in children with isolated left ventricular noncompaction. (21496170)
2011
29
Left ventricular noncompaction cardiomyopathy. (22218001)
2011
30
Implantable cardioverter defibrillator in a young child with left ventricular noncompaction. (21798475)
2011
31
Long-term follow-up of patients with isolated left ventricular noncompaction: role of electrocardiography in predicting poor outcome. (21617326)
2011
32
Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient? (21952291)
2011
33
Sudden unexpected death due to left ventricular noncompaction of myocardium: case report and review of the literature. (20032775)
2010
34
Left ventricular noncompaction and myocardial fibrosis: a case report. (20843341)
2010
35
Isolated left ventricular noncompaction syndrome. (19801037)
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
SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. (18368697)
2008
39
Sinus bradycardia, Wolff Parkinson White, and left ventricular noncompaction: an embryologic connection? (17786379)
2008
40
Echocardiography in the diagnosis left ventricular noncompaction. (19105818)
2008
41
Left ventricular noncompaction/hypertrabeculation cardiomyopathy. (19400533)
2008
42
Left ventricular noncompaction or papillary muscle? (17700403)
2007
43
Reply to 'Left ventricular noncompaction or papillary muscle?'. (17700418)
2007
44
Left ventricular restoration surgery for isolated left ventricular noncompaction: report of the first successful case. (17599523)
2007
45
Comparison of regional systolic myocardial velocities in patients with isolated left ventricular noncompaction and patients with idiopathic dilated cardiomyopathy. (17543758)
2007
46
Comparison of regional systolic myocardial velocities in patients with isolated left ventricular noncompaction and patients with idiopathic dilated cardiomyopathy. (17098133)
2006
47
Isolated left ventricular noncompaction of the myocardium as a cause of embolic superior mesenteric artery occlusion. (15947775)
2005
48
Left ventricular noncompaction cardiomyopathy in association with trisomy 13. (15549619)
2005
49
Double-orifice mitral valve associated with nonisolated left ventricular noncompaction--a case report. (15547659)
2004
50

Variations for Left Ventricular Noncompaction

About this section

Expression for genes affiliated with Left Ventricular Noncompaction

About this section
Search GEO for disease gene expression data for Left Ventricular Noncompaction.

Pathways for genes affiliated with Left Ventricular Noncompaction

About this section

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

About this section

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

About this section
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