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, 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 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.

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 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 & 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:00053789.7ACTC1, 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

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 Noncompaction27 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:

36
Heart, Kidney

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50)    (show all 352)
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, or Is It? (27855807)
2016
4
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. (26777414)
2016
5
Left ventricular noncompaction cardiomyopathy in end-stage heart failure patients undergoing orthotopic heart transplantation. (27135206)
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
LVAD as a Bridge to Heart Transplantation in a Patient with Left Ventricular Noncompaction Cardiomyopathy and Advanced Heart Failure. (27355148)
2016
8
A cortical stroke secondary to an isolated left ventricular noncompaction in a 29-year-old female. (27751274)
2016
9
Calcified left ventricular noncompaction with complete atrioventricular block. (27372727)
2016
10
Left ventricular noncompaction diagnosed following Graves' disease. (27843800)
2016
11
Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. (27989498)
2016
12
Left Ventricular Noncompaction: Anatomical Phenotype or Distinct Cardiomyopathy? (27855805)
2016
13
Anesthetic experience of patient with isolated left ventricular noncompaction: a case report. (27274374)
2016
14
Isolated left ventricular noncompaction causing refractory heart failure. (26928017)
2016
15
When it rains, it pours: Peripartum cardiomyopathy with features of left-ventricular noncompaction in a hemodialysis patient. (27147549)
2016
16
Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report. (27138316)
2016
17
Left Ventricular Noncompaction Combined With Epinephrine-Secreted Pheochromocytoma Inducing Heart Failure. (26973259)
2016
18
Estimation of Prevalence of the Left Ventricular Noncompaction Among Adults. (27448685)
2016
19
Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction. (27798758)
2016
20
Fukutin gene mutations that cause left ventricular noncompaction. (27521547)
2016
21
Suspected Malignant Hyperthermia During Biventricular Assist Device Implantation in a Patient With Left Ventricular Noncompaction Cardiomyopathy. (27842951)
2016
22
Left ventricular noncompaction mimicking hypertrophic obstructive cardiomyopathy. (27394980)
2016
23
A case of isolated left ventricular noncompaction. (27728033)
2016
24
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy? (27561770)
2016
25
Genetic, Myopathic, and Diagnostic Implications of Left Ventricular Noncompaction. (26797382)
2016
26
Case images: Diagnosis of a rare combination of hypertrophic and left ventricular noncompaction cardiomyopathy using cardiac magnetic resonance imaging. (27439938)
2016
27
Isolated Left Ventricular Noncompaction Cardiomyopathy: A Transient Disease? (27667386)
2016
28
The role of cardiac computed tomography in diagnosing left ventricular noncompaction in patients with sinus node dysfunction. (27057981)
2016
29
The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature. (26881173)
2016
30
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
31
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
32
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
33
Left ventricular noncompaction in a family with lamin a/c gene mutation. (25873806)
2015
34
Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction. (25550050)
2015
35
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. (26464484)
2015
36
Sudden Death in a Case of Isolated Left Ventricular Noncompaction: An Autopsy Case Report. (26332644)
2015
37
Big data for a rare disease: Examining heart transplantation for left ventricular noncompaction in the United Network of Organ Sharing registry. (25940078)
2015
38
Left ventricular noncompaction: imaging findings and diagnostic criteria. (25905958)
2015
39
Left ventricular noncompaction and athletes-reply. (25560947)
2015
40
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. (26025024)
2015
41
Asymptomatic left ventricular noncompaction--implications for athletic participation. (25757002)
2015
42
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation. (25708061)
2015
43
Cesarean Delivery in a Parturient with Left Ventricular Noncompaction Complicated by Acute Pulmonary Hypertension After Methylergonovine Administration for Postpartum Hemorrhage. (26050249)
2015
44
A novel MYH7 gene mutation in a fetus with left ventricular noncompaction. (25547560)
2015
45
Left ventricular noncompaction and athletes: looking for stratification criteria. (25560945)
2015
46
Stroke in a Young Individual with Left Ventricular Noncompaction and Left Atrium Standstill. (26413113)
2015
47
Ebstein's Anomaly, Left Ventricular Noncompaction, and Sudden Cardiac Death. (26240764)
2015
48
Left Ventricular Noncompaction Diagnosis and Management Relevant to Pre-participation Screening of Athletes. (26141199)
2015
49
Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. (25786759)
2015
50
Left ventricular noncompaction presenting like a double-chambered left ventricle. (25798904)
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
310.1ACTN2, 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:003298210.9MYH7, MYH7B
2pseudopodiumGO:003114310.8ACTN2, LDB3
3myofibrilGO:003001610.7MYH7, TNNT2, TPM1
4sarcolemmaGO:004238310.6DTNA, SCN5A, SNTA1
5cytoskeletonGO:000585610.5ACTN2, CSRP3, LDB3, SNTA1, TPM1
6sarcomereGO:003001710.1ACTC1, ACTN2, MYBPC3, MYH7, RYR2, TNNT2
7cytosolGO:00058299.8ACTC1, ACTN2, LMNA, MIB1, MYBPC3, PRDM16
8Z discGO:00300189.6ACTN2, CSRP3, LDB3, MYH7, RYR2, SCN5A

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

(show all 16)
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
5regulation of the force of heart contractionGO:000202610.7CSRP3, MYH7
6striated muscle contractionGO:000694110.7DTNA, MYH7
7regulation of sodium ion transmembrane transportGO:190230510.7SCN5A, SNTA1
8positive regulation of ATPase activityGO:003278110.7MYBPC3, TNNT2, TPM1
9regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6SCN5A, SNTA1
10sarcomere organizationGO:004521410.6ACTN2, LDB3, TPM1
11regulation of heart rateGO:000202710.4MYH7, RYR2, SCN5A, SNTA1
12ventricular cardiac muscle cell action potentialGO:008600510.3RYR2, SCN5A, SNTA1
13muscle filament slidingGO:003004910.3ACTC1, ACTN2, MYBPC3, MYH7, TNNT2, TPM1
14muscle contractionGO:000693610.3ACTN2, MYH7, SNTA1, TAZ, TNNT2, TPM1
15ventricular cardiac muscle tissue morphogenesisGO:005501010.0MYBPC3, MYH7, TNNT2, TPM1
16cardiac muscle contractionGO:00600489.9ACTC1, 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
1myosin bindingGO:001702211.0ACTC1, MYBPC3
2nitric-oxide synthase bindingGO:005099810.9SCN5A, SNTA1
3cytoskeletal protein bindingGO:000809210.9ACTN2, LDB3, TPM1
4calmodulin bindingGO:000551610.7MYH7, RYR2, SCN5A, SNTA1
5actin bindingGO:000377910.5MYBPC3, MYH7, MYH7B, SNTA1, TNNT2, TPM1
6ion channel bindingGO:004432510.5ACTN2, RYR2, SCN5A, SNTA1, YWHAE
7structural constituent of muscleGO:000830710.2ACTN2, CSRP3, MYBPC3, TPM1
8titin bindingGO:003143210.2ACTN2, MYBPC3
9protein bindingGO:00055158.6ACTN2, 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