MCID: LFT003
MIFTS: 46

Left Ventricular Noncompaction malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Left Ventricular Noncompaction

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NIH Rare Diseases:41 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 hypertrophic cardiomyopathy and barth syndrome. An important gene associated with Left Ventricular Noncompaction is DTNA (dystrobrevin, alpha), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related mouse phenotypes are normal and muscle.

Aliases & Classifications for Left Ventricular Noncompaction

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Sources:
41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Left Ventricular Noncompaction, Aliases & Descriptions:

Name: Left Ventricular Noncompaction 41 47 22 60
Left Ventricular Hypertrabeculation 41 47
 
Spongy Myocardium 41 47
Lvnc 41 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

47
left ventricular noncompaction:
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages


External Ids:

Orphanet47 54260
ICD10 via Orphanet26 I42.8
UMLS via Orphanet61 C1960469

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 81)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy31.5MYBPC3, MYH7
2barth syndrome31.4DTNA, TAZ, LDB3
3duchenne muscular dystrophy30.7DTNA, TNNT2
4myopathy30.7DTNA, LDB3, TNNT2, TAZ, TPM1, LMNA
5sudden infant death syndrome30.6SCN5A
6atrial fibrillation30.5SCN5A, LMNA
7congenital heart disease30.5TAZ, LMNA
8atrioventricular block30.4LMNA, SCN5A
9long qt syndrome30.4MYH7, SNTA1, SCN5A
10dilated cardiomyopathy29.4TAZ, LDB3, MYH7, MYBPC3, LMNA, TPM1
11left ventricular noncompaction 1, with or without congenital heart defects10.7
12cardiomyopathy, dilated, 1e10.6
13left ventricular noncompaction 210.6
14left ventricular noncompaction 710.6
15left ventricular noncompaction 1010.5
16cardiomyopathy, dilated, 1r10.5
17peripartum cardiomyopathy10.5
18endocardial fibroelastosis10.5TAZ
19left ventricular noncompaction 810.5
20cardiomyopathy, dilated, 1d10.5
21double-orifice mitral valve10.5
22restrictive cardiomyopathy10.5TNNT2
23myotonic dystrophy10.4
24fabry disease10.4
25myocardial infarction10.4
26neuronitis10.4
27sensorineural hearing loss10.4
28brugada syndrome10.4
29ebstein anomaly10.4
30hypothyroidism10.4
31muscular dystrophy10.4
32neuronal ceroid lipofuscinosis10.4
33aneurysm10.4
34charcot-marie-tooth disease, type 1a10.3
35charcot-marie-tooth disease10.3
36inclusion body myositis10.3
37myositis10.3
38neuromuscular disease10.3
39poliomyelitis10.3
40tooth disease10.3
41toxoplasmosis10.3
42autonomic dysfunction10.3
43cardiomyopathy, dilated, 1a10.2
44tetralogy of fallot10.2
45marfan syndrome10.2
46coffin-lowry syndrome10.2
47celiac disease10.2
48cardiomyopathy, dilated 1c10.2
49becker muscular dystrophy10.2
50pulmonary hypertension10.2

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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Drug clinical trials:

Search ClinicalTrials for Left Ventricular Noncompaction

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 Noncompaction22

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

31
Heart, Kidney

Animal Models for Left Ventricular Noncompaction or affiliated genes

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4SCN5A, TPM1, LMNA, MIB1, ACTC1, TNNT2
2MP:00053697.1TNNT2, SCN5A, LMNA, MYBPC3, DTNA, LDB3
3MP:00107687.0LMNA, TPM1, SCN5A, TNNT2, PRDM16, DTNA
4MP:00053857.0CSRP3, TNNT2, SCN5A, TPM1, LMNA, MYBPC3
5MP:00053786.9TNNT2, SCN5A, TPM1, LMNA, MYBPC3, PRDM16
6MP:00053766.4TNNT2, LMNA, MYBPC3, LDB3, MIB1, ACTC1

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50)    (show all 302)
idTitleAuthorsYear
1
A novel MYH7 gene mutation in a fetus with left ventricular noncompaction. (25547560)
2015
2
Left ventricular noncompaction and athletes: looking for stratification criteria. (25560945)
2015
3
Echocardiographic and histopathological diagnosis of left ventricular noncompaction. (25563624)
2014
4
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (25145517)
2014
5
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
6
A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction. (25262865)
2014
7
Ischemic stroke in left ventricular noncompaction and celiac disease. (25086466)
2014
8
Left ventricular noncompaction - a case report. (25178616)
2014
9
Adult left ventricular noncompaction: reappraisal of current diagnostic imaging modalities. (25496545)
2014
10
Guiding the management of ventricular arrhythmias in patients with left ventricular noncompaction cardiomyopathy: a knowledge gap. (25290726)
2014
11
Magnetic resonance assessment of prevalence and correlates of right ventricular abnormalities in isolated left ventricular noncompaction. (24176065)
2014
12
Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC). (23843320)
2013
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
Focal left atrial tachycardia in a patient with left ventricular noncompaction. (23762071)
2013
16
Features of left ventricular noncompaction in peripartum cardiomyopathy: a case series. (23103144)
2013
17
Three-dimensional echocardiography for the evaluation of left ventricular noncompaction. (22658560)
2012
18
Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction. (22036106)
2012
19
Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction. (22929165)
2012
20
Left ventricular noncompaction and aneurysm revealed by left ventriculography. (21954168)
2012
21
Left ventricular noncompaction: a proposal of new diagnostic criteria by multidetector computed tomography. (22981859)
2012
22
Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa. (22991407)
2012
23
Three-dimensional echocardiographic characterization of patients with left ventricular noncompaction. (22154390)
2012
24
Left ventricular noncompaction. (22565075)
2012
25
Isolated left ventricular noncompaction cardiomyopathy diagnosed by transesophageal echocardiography. (21487457)
2011
26
Electrocardiographic findings at initial diagnosis in children with isolated left ventricular noncompaction. (21496170)
2011
27
Left ventricular noncompaction cardiomyopathy. (22218001)
2011
28
Implantable cardioverter defibrillator in a young child with left ventricular noncompaction. (21798475)
2011
29
Long-term follow-up of patients with isolated left ventricular noncompaction: role of electrocardiography in predicting poor outcome. (21617326)
2011
30
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
31
Left-ventricular noncompaction in a pediatric population: predictors of survival. (21188370)
2011
32
Sudden unexpected death due to left ventricular noncompaction of myocardium: case report and review of the literature. (20032775)
2010
33
Left ventricular noncompaction and myocardial fibrosis: a case report. (20843341)
2010
34
Left ventricular noncompaction: a new form of heart failure. (20869646)
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
Sporadic isolated left ventricular noncompaction: dread disease or not? (17437566)
2007
47
Comparison of regional systolic myocardial velocities in patients with isolated left ventricular noncompaction and patients with idiopathic dilated cardiomyopathy. (17098133)
2006
48
Isolated left ventricular noncompaction of the myocardium as a cause of embolic superior mesenteric artery occlusion. (15947775)
2005
49
Left ventricular noncompaction cardiomyopathy in association with trisomy 13. (15549619)
2005
50
Double-orifice mitral valve associated with nonisolated left ventricular noncompaction--a case report. (15547659)
2004

Variations for Left Ventricular Noncompaction

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Clinvar genetic disease variations for Left Ventricular Noncompaction:

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.649_651delAAG (p.Lys217del)deletionPathogenicrs121964859GRCh37Chr 1, 201331100: 201331102
2TNNT2NM_000364.3(TNNT2): c.451C> T (p.Arg151Trp)single nucleotide variantPathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
3TNNT2NM_000364.3(TNNT2): c.421C> T (p.Arg141Trp)single nucleotide variantLikely pathogenic, Pathogenicrs74315380GRCh37Chr 1, 201333494: 201333494
4TNNT2NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu)single nucleotide variantPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
5TNNT2NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764
6TPM1NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys)single nucleotide variantPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
7TPM1NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys)single nucleotide variantPathogenicrs104894501GRCh37Chr 15, 63336229: 63336229
8MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)single nucleotide variantPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
9MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)single nucleotide variantPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
10MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)single nucleotide variantPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
11MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)single nucleotide variantPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
12MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
13NM_005159.4(ACTC1): c.941G> A (p.Arg314His)single nucleotide variantPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
14NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)single nucleotide variantPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
15LDB3NM_007078.2(LDB3): c.1051A> G (p.Thr351Ala)single nucleotide variantLikely pathogenicrs138251566GRCh37Chr 10, 88466442: 88466442
16MIB1NM_020774.3(MIB1): c.2827G> T (p.Val943Phe)single nucleotide variantPathogenicrs200035428GRCh37Chr 18, 19438554: 19438554
17MIB1NM_020774.3(MIB1): c.1588C> T (p.Arg530Ter)single nucleotide variantPathogenicrs201850378GRCh37Chr 18, 19395685: 19395685
18MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
19MYBPC3NM_000256.3(MYBPC3): c.2497G> A (p.Ala833Thr)single nucleotide variantPathogenicrs199865688GRCh37Chr 11, 47359047: 47359047
20MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
21LDB3NM_007078.2(LDB3): c.1035C> G (p.Ile345Met)single nucleotide variantPathogenicrs121908336GRCh37Chr 10, 88466426: 88466426
22LDB3NM_001080116.1(LDB3): c.383A> T (p.Lys128Met)single nucleotide variantPathogenicrs121908339GRCh37Chr 10, 88446864: 88446864
23LDB3NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn)single nucleotide variantPathogenicrs45514002GRCh37Chr 10, 88485932: 88485932
24PRDM16NM_022114.3(PRDM16): c.2104A> T (p.Lys702Ter)single nucleotide variantPathogenicrs397514742GRCh37Chr 1, 3328865: 3328865
25PRDM16PRDM16, 1-BP DUP, 1573CduplicationPathogenic
26PRDM16NM_022114.3(PRDM16): c.2447A> G (p.Asn816Ser)single nucleotide variantPathogenicrs397514743GRCh37Chr 1, 3329208: 3329208
27MYBPC3NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe)single nucleotide variantPathogenicrs397514751GRCh37Chr 11, 47353646: 47353646
28MYBPC3NM_000256.3(MYBPC3): c.2618C> T (p.Pro873Leu)single nucleotide variantPathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
29MYBPC3MYBPC3, 2-BP DEL, 2919CTdeletionPathogenic
30DTNANM_001390.4(DTNA): c.362C> T (p.Pro121Leu)single nucleotide variantPathogenicrs104894654GRCh37Chr 18, 32374214: 32374214
31MYBPC3NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr)single nucleotide variantPathogenicrs121909376GRCh37Chr 11, 47356655: 47356655

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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Compounds for genes affiliated with Left Ventricular Noncompaction

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Compounds related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin5910.0MYH7B, MYH7
2bts5910.0MYH7B, MYH7
3(s)-(-)-blebbistatin599.9MYH7B, MYH7
4(+-)-blebbistatin599.8MYH7B, MYH7
5actomyosin439.5ACTC1, MYH7
6cardiolipin43 1210.3MBL2, TAZ
7valine438.6MBL2, MT-ND1, MYH7, SCN5A
8creatinine438.5TNNT2, LMNA, MYH7, ACTC1, MBL2
9sodium43 249.4SCN5A, MYH7, SNTA1, MBL2
10atp43 289.1LMNA, MYBPC3, MYH7, MT-ND1, TAZ, MBL2
11calcium43 49 24 1210.1TNNT2, SCN5A, TPM1, LMNA, MYH7, ACTC1

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
1stress fiberGO:000172510.0MYH7, TPM1
2myosin filamentGO:00329829.8MYH7, MYH7B
3Z discGO:00300189.5MYH7, LDB3, CSRP3
4sarcomereGO:00300179.2ACTC1, MYH7, MYBPC3, TPM1, TNNT2
5lateral plasma membraneGO:00163289.0SNTA1, SCN5A
6cytoskeletonGO:00058568.9TPM1, LDB3, SNTA1, CSRP3

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of muscle contractionGO:000693710.2TPM1, TNNT2
2striated muscle contractionGO:000694110.1DTNA, MYH7
3positive regulation of ATPase activityGO:003278110.0MYBPC3, TPM1, TNNT2
4sarcomere organizationGO:00452149.8TNNT2, TPM1, MYBPC3, LDB3
5cardiac myofibril assemblyGO:00550039.8ACTC1, CSRP3
6cardiac muscle tissue developmentGO:00487389.8CSRP3, TAZ
7regulation of the force of heart contractionGO:00020269.8CSRP3, MYH7
8ventricular cardiac muscle tissue morphogenesisGO:00550109.7TNNT2, TPM1, MYBPC3, MYH7
9regulation of heart contractionGO:00080169.7TPM1, TNNT2
10skeletal muscle tissue developmentGO:00075199.6TAZ, CSRP3
11regulation of sodium ion transmembrane transportGO:019023059.6SNTA1, SCN5A
12ATP catabolic processGO:00062009.6TNNT2, MYH7, ACTC1
13regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603079.5SNTA1, SCN5A
14muscle filament slidingGO:00300499.4TNNT2, TPM1, MYBPC3, MYH7, ACTC1
15muscle contractionGO:00069369.3TPM1, MYH7, SNTA1, TAZ
16ventricular cardiac muscle cell action potentialGO:00860059.2SNTA1, SCN5A
17regulation of heart rateGO:00020279.1SCN5A, MYBPC3, MYH7, SNTA1
18cardiac muscle contractionGO:00600488.6TAZ, CSRP3, ACTC1, MYBPC3, TPM1, SCN5A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:000809210.0LDB3, TPM1
2myosin bindingGO:00170229.8ACTC1, MYBPC3
3structural constituent of muscleGO:00083079.6TPM1, MYBPC3, CSRP3
4ATPase activityGO:00168879.6TNNT2, MYH7, ACTC1
5nitric-oxide synthase bindingGO:00509989.4SNTA1, SCN5A
6calmodulin bindingGO:00055168.8SNTA1, MYH7, SCN5A
7actin bindingGO:00037798.7SNTA1, MYH7, MYH7B, MYBPC3, TPM1, TNNT2
8protein bindingGO:00055156.1SCN5A, LMNA, MYH7B, MYH7, PRDM16, DTNA

Products for genes affiliated with Left Ventricular Noncompaction

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Sources for Left Ventricular Noncompaction

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet