LVNC
MCID: LFT003
MIFTS: 50

Left Ventricular Noncompaction (LVNC) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Left Ventricular Noncompaction

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 11 48 24 54 27 13 68
Left Ventricular Hypertrabeculation 11 48 54
 
Lvnc 48 24 54
Spongy Myocardium 48 54

Characteristics:

Orphanet epidemiological data:

54
left ventricular noncompaction:
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology11 DOID:0060480
Orphanet54 ORPHA54260
UMLS via Orphanet69 C1960469
ICD10 via Orphanet31 I42.8

Summaries for Left Ventricular Noncompaction

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NIH Rare Diseases:48 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 left ventricular noncompaction 1, with or without congenital heart defects and left ventricular noncompaction 7. 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.

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 102)
idRelated DiseaseScoreTop Affiliating Genes
1left ventricular noncompaction 1, with or without congenital heart defects12.5
2left ventricular noncompaction 712.2
3left ventricular noncompaction 812.2
4left ventricular noncompaction 1012.2
5left ventricular noncompaction 212.2
6left ventricular noncompaction 3, with or without dilated cardiomyopathy12.2
7cardiomyopathy, dilated, 1aa, with or without lvnc11.9
8cardiomyopathy, dilated, 1e11.6
9barth syndrome11.4
10cardiomyopathy, dilated, 1c, with or without lvnc11.4
11cardiomyopathy, dilated, 1r11.4
12cardiomyopathy, dilated, 1d11.3
13dilated cardiomyopathy 1c11.1
14dilated cardiomyopathy 1aa11.1
15cardiomyopathy, dilated, 1a11.1
16cardiomyopathy10.7
17polyposis syndrome, hereditary mixed, 210.3ACTN2, DTNA, LDB3
18trs2-related diamond-blackfan anemia with mandibulofacial dysostosis10.3MYH7, SCN5A, TPM1
19myopathy, x-linked, with excessive autophagy10.3DTNA, LDB3, TAZ
20ndp-related retinopathy of prematurity10.3MYH7, SCN5A, TPM1
21selenon-related myopathy10.3MYH7, SCN5A, TPM1
22sema4a-related retinitis pigmentosa10.3MYH7, SCN5A, TPM1
23fibular hemimelia, bilateral10.3LDB3, LMNA, RYR2
24fibular hemimelia, unilateral10.3LDB3, LMNA, RYR2
25congenital absence of upper arm and forearm with hand present, bilateral10.3LDB3, LMNA, RYR2
26hydrarthrosis10.3ACTC1, YWHAE
27frontonasal dysplasia with alar clefts10.3ACTN2, CSRP3, MYH7, TAZ
28micturation-induced seizures10.3HCN4, SCN5A
29sudden infant death syndrome10.3MYH7, SCN5A, TPM1
30ostertagiasis10.3ACTC1, MYBPC3, MYH7, TNNT2
31tardbp-related frontotemporal dementia10.3MYBPC3, MYH7, SCN5A, TPM1
32sick sinus syndrome 110.3RYR2, SCN5A, TNNT2
33lipodystrophy, familial partial, type 510.3HCN4, SCN5A, SNTA1
34arrhythmogenic right ventricular dysplasia 210.3RYR2, SCN5A
35third-degree atrioventricular block10.3HCN4, LMNA, SCN5A
36familial periodic paralysis10.2HCN4, RYR2, SCN5A
37multicentric carpotarsal osteolysis syndrome10.2SCN5A, SNTA1
38endocardium disease10.2HCN4, LMNA
39mastoiditis10.2RYR2, SCN5A, TNNT2
40familial partial lipodystrophy10.2ACTN2, LDB3, LMNA, RYR2, SCN5A
41myopathy10.2
42fanconi anemia complementation group r10.2SCN5A, TNNT2
43mosaic trisomy 110.2ACTN2, LMNA, MYBPC3, MYH7, SCN5A, TNNT2
44retinitis pigmentosa 1810.2ACTN2, LMNA, MYBPC3, MYH7, SCN5A, TNNT2
45xanthogranulomatous pyelonephritis10.2MYBPC3, MYH7, RYR2, SCN5A, TAZ, TNNT2
46hyperthyroxinemia10.2RYR2, SCN5A, SNTA1
47dilated cardiomyopathy10.1
48peripartum cardiomyopathy10.1
49pervasive developmental disorder10.0ACTC1, CSRP3, LMNA, MYBPC3, MYH7, RYR2
50atrial fibrillation, familial, 310.0RYR2, SCN5A, SNTA1

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



Diseases related to left ventricular noncompaction

Symptoms & Phenotypes for Left Ventricular Noncompaction

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053789.8ACTC1, CSRP3, DTNA, LDB3, LMNA, MIB1
2MP:00053769.6ACTC1, CSRP3, LDB3, LMNA, MIB1, MYBPC3
3MP:00107689.4ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
4MP:00028739.4ACTC1, HCN4, LMNA, MIB1, PRDM16, RYR2
5MP:00053699.3ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA
6MP:00053859.3ACTC1, CSRP3, DTNA, HCN4, LDB3, LMNA

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
6An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in ChinaRecruitingNCT03076580
7Metabolomic Study of All-age CardiomyopathyRecruitingNCT03061994
8Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
9German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263

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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 Noncompaction27 24 ACTC1, DTNA, LDB3, MIB1, MYH7, TNNT2, TPM1

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

36
Heart, Kidney

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50)    (show all 354)
idTitleAuthorsYear
1
Ventricular arrhythmias associated with left ventricular noncompaction: Electrophysiologic characteristics, mapping, and ablation. (27890738)
2017
2
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. (28079110)
2017
3
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. (28520539)
2017
4
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. (28249770)
2017
5
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. (26777414)
2016
6
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. (27609553)
2016
7
Isolated left ventricular noncompaction causing refractory heart failure. (26928017)
2016
8
Left ventricular noncompaction mimicking hypertrophic obstructive cardiomyopathy. (27394980)
2016
9
A case of isolated left ventricular noncompaction. (27728033)
2016
10
The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature. (26881173)
2016
11
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy? (27561770)
2016
12
Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. (27989498)
2016
13
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. (27625337)
2016
14
Suspected Malignant Hyperthermia During Biventricular Assist Device Implantation in a Patient With Left Ventricular Noncompaction Cardiomyopathy. (27842951)
2016
15
Genetic, Myopathic, and Diagnostic Implications of Left Ventricular Noncompaction. (26797382)
2016
16
LVAD as a Bridge to Heart Transplantation in a Patient with Left Ventricular Noncompaction Cardiomyopathy and Advanced Heart Failure. (27355148)
2016
17
Calcified left ventricular noncompaction with complete atrioventricular block. (27372727)
2016
18
Left ventricular noncompaction cardiomyopathy in end-stage heart failure patients undergoing orthotopic heart transplantation. (27135206)
2016
19
When it rains, it pours: Peripartum cardiomyopathy with features of left-ventricular noncompaction in a hemodialysis patient. (27147549)
2016
20
Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report. (27138316)
2016
21
A cortical stroke secondary to an isolated left ventricular noncompaction in a 29-year-old female. (27751274)
2016
22
Case images: Diagnosis of a rare combination of hypertrophic and left ventricular noncompaction cardiomyopathy using cardiac magnetic resonance imaging. (27439938)
2016
23
Estimation of Prevalence of the Left Ventricular Noncompaction Among Adults. (27448685)
2016
24
Left ventricular noncompaction diagnosed following Graves' disease. (27843800)
2016
25
Fukutin gene mutations that cause left ventricular noncompaction. (27521547)
2016
26
Left Ventricular Noncompaction: Anatomical Phenotype or Distinct Cardiomyopathy? (27855805)
2016
27
Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction. (27798758)
2016
28
The role of cardiac computed tomography in diagnosing left ventricular noncompaction in patients with sinus node dysfunction. (27057981)
2016
29
Left Ventricular Noncompaction Combined With Epinephrine-Secreted Pheochromocytoma Inducing Heart Failure. (26973259)
2016
30
Left Ventricular Noncompaction, or Is It? (27855807)
2016
31
Isolated Left Ventricular Noncompaction Cardiomyopathy: A Transient Disease? (27667386)
2016
32
Anesthetic experience of patient with isolated left ventricular noncompaction: a case report. (27274374)
2016
33
TEMPORARY REMOVAL: Adherence to Thresholds: Overdiagnosis of Left Ventricular Noncompaction Cardiomyopathy. (25797302)
2015
34
Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. (25786759)
2015
35
Left ventricular noncompaction: imaging findings and diagnostic criteria. (25905958)
2015
36
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
37
Left ventricular noncompaction and athletes-reply. (25560947)
2015
38
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
39
Stroke in a Young Individual with Left Ventricular Noncompaction and Left Atrium Standstill. (26413113)
2015
40
Increased Left Ventricular Trabeculation Does Not Necessarily Equate to Left Ventricular Noncompaction in Athletes. (26146927)
2015
41
Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein. (26070998)
2015
42
Increased left ventricular trabeculation does not necessarily equate to left ventricular noncompaction in athletes. (25730564)
2015
43
Reply: The Importance of Cardiac Cycle inA the Imaging Criteria for Left Ventricular Noncompaction. (25835457)
2015
44
Sudden Death in a Case of Isolated Left Ventricular Noncompaction: An Autopsy Case Report. (26332644)
2015
45
Asymptomatic left ventricular noncompaction--implications for athletic participation. (25757002)
2015
46
Cesarean Delivery in a Parturient with Left Ventricular Noncompaction Complicated by Acute Pulmonary Hypertension After Methylergonovine Administration for Postpartum Hemorrhage. (26050249)
2015
47
Arrhythmias in left ventricular noncompaction. (26002396)
2015
48
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. (26025024)
2015
49
Left ventricular noncompaction and athletes: looking for stratification criteria. (25560945)
2015
50
A novel MYH7 gene mutation in a fetus with left ventricular noncompaction. (25547560)
2015

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
410.1ACTC1, SCN5A, TNNT2
510.0ACTC1, LMNA, TNNT2, TPM1
69.8ACTC1, MYH7, RYR2, TNNT2, TPM1
79.8HCN4, LMNA, RYR2, SCN5A
89.8ACTC1, ACTN2, MYBPC3, TNNT2, TPM1
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
9.6ACTC1, LMNA, MYBPC3, MYH7, RYR2, TNNT2

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
1cardiac myofibrilGO:009751210.8MYBPC3, MYH7B, TNNT2
2pseudopodiumGO:003114310.8ACTN2, LDB3
3actin filamentGO:000588410.8ACTC1, ACTN2, TPM1
4myosin filamentGO:003298210.7MYBPC3, MYH7, MYH7B
5myofibrilGO:003001610.7MYH7, TNNT2, TPM1
6sarcolemmaGO:004238310.6DTNA, SCN5A, SNTA1
7cytoskeletonGO:000585610.1ACTC1, ACTN2, CSRP3, LDB3, MIB1, SNTA1
8sarcomereGO:00300179.9ACTC1, ACTN2, CSRP3, MYBPC3, MYH7, RYR2
9Z discGO:00300189.5ACTN2, CSRP3, LDB3, MYBPC3, MYH7, RYR2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:005500310.8ACTC1, CSRP3
2cardiac muscle tissue developmentGO:004873810.8CSRP3, TAZ
3cardiac muscle hypertrophyGO:000330010.8CSRP3, RYR2
4regulation of muscle contractionGO:000693710.8TNNT2, TPM1
5membrane depolarization during cardiac muscle cell action potentialGO:008601210.8HCN4, SCN5A
6membrane depolarization during SA node cell action potentialGO:008604610.8HCN4, SCN5A
7regulation of cardiac muscle contractionGO:005511710.7HCN4, RYR2
8regulation of the force of heart contractionGO:000202610.7CSRP3, MYH7
9positive regulation of ATPase activityGO:003278110.7MYBPC3, TNNT2, TPM1
10regulation of sodium ion transmembrane transportGO:190230510.7SCN5A, SNTA1
11SA node cell action potentialGO:008601510.6HCN4, SCN5A
12regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6SCN5A, SNTA1
13striated muscle contractionGO:000694110.5DTNA, MYBPC3, MYH7
14regulation of heart rate by cardiac conductionGO:008609110.5HCN4, SCN5A, YWHAE
15sarcomere organizationGO:004521410.4ACTN2, LDB3, MYBPC3, TPM1
16muscle filament slidingGO:003004910.3ACTC1, ACTN2, MYBPC3, MYH7, TNNT2, TPM1
17ventricular cardiac muscle cell action potentialGO:008600510.3RYR2, SCN5A, SNTA1
18regulation of heart rateGO:000202710.3HCN4, MYH7, RYR2, SCN5A, SNTA1
19muscle contractionGO:000693610.1ACTN2, HCN4, MYH7, SNTA1, TAZ, TNNT2
20ventricular cardiac muscle tissue morphogenesisGO:005501010.0MYBPC3, MYH7, TNNT2, TPM1
21cardiac muscle contractionGO:00600489.9ACTC1, CSRP3, MYBPC3, MYH7, RYR2, SCN5A

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137111.0LDB3, MYBPC3
2myosin bindingGO:001702211.0ACTC1, MYBPC3
3nitric-oxide synthase bindingGO:005099810.9SCN5A, SNTA1
4cytoskeletal protein bindingGO:000809210.9ACTN2, LDB3, TPM1
5ion channel activityGO:000521610.8HCN4, RYR2, SCN5A
6calmodulin bindingGO:000551610.7MYH7, RYR2, SCN5A, SNTA1
7titin bindingGO:003143210.6ACTN2, MYBPC3
8ion channel bindingGO:004432510.5ACTN2, RYR2, SCN5A, SNTA1, YWHAE
9structural constituent of muscleGO:000830710.3ACTN2, CSRP3, MYBPC3, TPM1
10actin bindingGO:000377910.2ACTN2, CSRP3, MYBPC3, MYH7, MYH7B, SNTA1
11voltage-gated sodium channel activityGO:000524810.1HCN4, SCN5A
12protein bindingGO:00055158.7ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1

Sources for Left Ventricular Noncompaction

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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