LVNC
MCID: LFT003
MIFTS: 50

Left Ventricular Noncompaction (LVNC) malady

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Left Ventricular Noncompaction

Aliases & Descriptions for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 12 50 24 56 29 14 69
Left Ventricular Hypertrabeculation 12 50 56
Lvnc 50 24 56
Spongy Myocardium 50 56

Characteristics:

Orphanet epidemiological data:

56
left ventricular noncompaction
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060480
Orphanet 56 ORPHA54260
UMLS via Orphanet 70 C1960469
ICD10 via Orphanet 34 I42.8

Summaries for Left Ventricular Noncompaction

NIH Rare Diseases : 50 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/superpathways are Vascular smooth muscle contraction and Cardiac conduction. Affiliated tissues include heart and kidney, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.

Related Diseases for Left Ventricular Noncompaction

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)
id Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1, with or without congenital heart defects 12.5
2 left ventricular noncompaction 7 12.2
3 left ventricular noncompaction 8 12.2
4 left ventricular noncompaction 10 12.2
5 left ventricular noncompaction 3, with or without dilated cardiomyopathy 12.2
6 left ventricular noncompaction 2 12.2
7 cardiomyopathy, dilated, 1aa, with or without lvnc 11.9
8 cardiomyopathy, dilated, 1e 11.6
9 barth syndrome 11.4
10 cardiomyopathy, dilated, 1r 11.4
11 cardiomyopathy, dilated, 1c, with or without lvnc 11.4
12 cardiomyopathy, dilated, 1d 11.3
13 dilated cardiomyopathy 1c 11.1
14 dilated cardiomyopathy 1aa 11.1
15 cardiomyopathy, dilated, 1a 11.1
16 cardiomyopathy 10.7
17 polyposis syndrome, hereditary mixed, 2 10.3 ACTN2 DTNA LDB3
18 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 10.3 MYH7 SCN5A TPM1
19 myopathy, x-linked, with excessive autophagy 10.3 DTNA LDB3 TAZ
20 ndp-related retinopathy of prematurity 10.3 MYH7 SCN5A TPM1
21 selenon-related myopathy 10.3 MYH7 SCN5A TPM1
22 sema4a-related retinitis pigmentosa 10.3 MYH7 SCN5A TPM1
23 fibular hemimelia, bilateral 10.3 LDB3 LMNA RYR2
24 fibular hemimelia, unilateral 10.3 LDB3 LMNA RYR2
25 congenital absence of upper arm and forearm with hand present, bilateral 10.3 LDB3 LMNA RYR2
26 hydrarthrosis 10.3 ACTC1 YWHAE
27 frontonasal dysplasia with alar clefts 10.3 ACTN2 CSRP3 MYH7 TAZ
28 micturation-induced seizures 10.3 HCN4 SCN5A
29 sudden infant death syndrome 10.3 MYH7 SCN5A TPM1
30 ostertagiasis 10.3 ACTC1 MYBPC3 MYH7 TNNT2
31 tardbp-related frontotemporal dementia 10.3 MYBPC3 MYH7 SCN5A TPM1
32 sick sinus syndrome 1 10.3 RYR2 SCN5A TNNT2
33 lipodystrophy, familial partial, type 5 10.3 HCN4 SCN5A SNTA1
34 arrhythmogenic right ventricular dysplasia 2 10.3 RYR2 SCN5A
35 third-degree atrioventricular block 10.3 HCN4 LMNA SCN5A
36 familial periodic paralysis 10.2 HCN4 RYR2 SCN5A
37 multicentric carpotarsal osteolysis syndrome 10.2 SCN5A SNTA1
38 endocardium disease 10.2 HCN4 LMNA
39 mastoiditis 10.2 RYR2 SCN5A TNNT2
40 familial partial lipodystrophy 10.2 ACTN2 LDB3 LMNA RYR2 SCN5A
41 myopathy 10.2
42 fanconi anemia complementation group r 10.2 SCN5A TNNT2
43 mosaic trisomy 1 10.2 ACTN2 LMNA MYBPC3 MYH7 SCN5A TNNT2
44 retinitis pigmentosa 18 10.2 ACTN2 LMNA MYBPC3 MYH7 SCN5A TNNT2
45 xanthogranulomatous pyelonephritis 10.2 MYBPC3 MYH7 RYR2 SCN5A TAZ TNNT2
46 hyperthyroxinemia 10.2 RYR2 SCN5A SNTA1
47 dilated cardiomyopathy 10.1
48 peripartum cardiomyopathy 10.1
49 pervasive developmental disorder 10.0 ACTC1 CSRP3 LMNA MYBPC3 MYH7 RYR2
50 atrial fibrillation, familial, 3 10.0 RYR2 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

MGI Mouse Phenotypes related to Left Ventricular Noncompaction:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 CSRP3 DTNA HCN4 LDB3 LMNA MIB1
2 growth/size/body region MP:0005378 10.06 TNNT2 ACTC1 CSRP3 DTNA LDB3 LMNA
3 homeostasis/metabolism MP:0005376 10.03 LDB3 LMNA MIB1 MYBPC3 PLEKHM2 PRDM16
4 mortality/aging MP:0010768 9.97 ACTC1 CSRP3 DTNA HCN4 LDB3 LMNA
5 muscle MP:0005369 9.77 ACTC1 CSRP3 DTNA HCN4 LDB3 LMNA
6 normal MP:0002873 9.23 ACTC1 HCN4 LMNA MIB1 PRDM16 RYR2

Drugs & Therapeutics for Left Ventricular Noncompaction

Interventional clinical trials:


id Name Status NCT ID Phase
1 Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy Completed NCT01481298
2 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014
3 Training-induced Increased Left Ventricular Trabeculation Completed NCT02568072
4 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
5 Prognosis of Isolated Left Ventricular Non-compaction in Adults Recruiting NCT02885363
6 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
7 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
8 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
9 German Centre for Cardiovascular Research Cardiomyopathy Register Recruiting NCT02187263

Search NIH Clinical Center for Left Ventricular Noncompaction

Genetic Tests for Left Ventricular Noncompaction

Genetic tests related to Left Ventricular Noncompaction:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 29 24 DTNA LDB3 ACTC1 MYH7 TNNT2 TPM1 MIB1

Anatomical Context for Left Ventricular Noncompaction

MalaCards organs/tissues related to Left Ventricular Noncompaction:

39
Heart, Kidney

Publications for Left Ventricular Noncompaction

Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 354)
id Title Authors Year
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

Expression for Left Ventricular Noncompaction

Search GEO for disease gene expression data for Left Ventricular Noncompaction.

Pathways for Left Ventricular Noncompaction

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 ACTC1 MYH7 RYR2 SCN5A TNNT2 TPM1
2
Show member pathways
12.53 ACTN2 MYBPC3 RYR2 SCN5A TNNT2 TPM1
3 12.26 ACTC1 LMNA TNNT2 TPM1
4 11.92 RYR2 SCN5A SNTA1 YWHAE
5 11.45 ACTC1 MYH7 RYR2 TNNT2 TPM1
6 11.43 MYH7 MYH7B YWHAE
7
Show member pathways
11.41 ACTC1 LMNA MYBPC3 MYH7 RYR2 TNNT2
8 11.33 ACTC1 SCN5A TNNT2
9 11.31 HCN4 LMNA RYR2 SCN5A
10 11.21 ACTC1 ACTN2 MYBPC3 TNNT2 TPM1
11 10.85 MYH7 MYH7B
12 10.77 DTNA SNTA1

GO Terms for Left Ventricular Noncompaction

Cellular components related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 ACTC1 ACTN2 CSRP3 LDB3 MIB1 SNTA1
2 sarcolemma GO:0042383 9.61 DTNA SCN5A SNTA1
3 actin filament GO:0005884 9.54 ACTC1 ACTN2 TPM1
4 myofibril GO:0030016 9.5 MYH7 TNNT2 TPM1
5 Z disc GO:0030018 9.5 ACTN2 CSRP3 LDB3 MYBPC3 MYH7 RYR2
6 pseudopodium GO:0031143 9.46 ACTN2 LDB3
7 myosin filament GO:0032982 9.43 MYBPC3 MYH7 MYH7B
8 cardiac myofibril GO:0097512 9.33 MYBPC3 MYH7B TNNT2
9 sarcomere GO:0030017 9.23 ACTC1 ACTN2 CSRP3 MYBPC3 MYH7 RYR2

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.7 ACTN2 HCN4 MYH7 SNTA1 TAZ TNNT2
2 sarcomere organization GO:0045214 9.67 ACTN2 LDB3 MYBPC3 TPM1
3 positive regulation of ATPase activity GO:0032781 9.65 MYBPC3 TNNT2 TPM1
4 regulation of heart rate GO:0002027 9.65 HCN4 MYH7 RYR2 SCN5A SNTA1
5 regulation of heart rate by cardiac conduction GO:0086091 9.63 HCN4 SCN5A YWHAE
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.62 MYBPC3 MYH7 TNNT2 TPM1
7 striated muscle contraction GO:0006941 9.61 DTNA MYBPC3 MYH7
8 cardiac muscle tissue development GO:0048738 9.6 CSRP3 TAZ
9 regulation of cardiac muscle contraction GO:0055117 9.59 HCN4 RYR2
10 regulation of the force of heart contraction GO:0002026 9.58 CSRP3 MYH7
11 regulation of muscle contraction GO:0006937 9.58 TNNT2 TPM1
12 ventricular cardiac muscle cell action potential GO:0086005 9.58 RYR2 SCN5A SNTA1
13 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.57 SCN5A SNTA1
14 cardiac myofibril assembly GO:0055003 9.56 ACTC1 CSRP3
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.55 HCN4 SCN5A
16 cardiac muscle hypertrophy GO:0003300 9.54 CSRP3 RYR2
17 regulation of sodium ion transmembrane transport GO:1902305 9.52 SCN5A SNTA1
18 SA node cell action potential GO:0086015 9.51 HCN4 SCN5A
19 membrane depolarization during SA node cell action potential GO:0086046 9.49 HCN4 SCN5A
20 muscle filament sliding GO:0030049 9.43 ACTC1 ACTN2 MYBPC3 MYH7 TNNT2 TPM1
21 cardiac muscle contraction GO:0060048 9.28 ACTC1 CSRP3 MYBPC3 MYH7 RYR2 SCN5A

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.65 HCN4 RYR2 SCN5A
2 calmodulin binding GO:0005516 9.56 MYH7 RYR2 SCN5A SNTA1
3 voltage-gated sodium channel activity GO:0005248 9.51 HCN4 SCN5A
4 cytoskeletal protein binding GO:0008092 9.5 ACTN2 LDB3 TPM1
5 myosin binding GO:0017022 9.49 ACTC1 MYBPC3
6 muscle alpha-actinin binding GO:0051371 9.46 LDB3 MYBPC3
7 structural constituent of muscle GO:0008307 9.46 ACTN2 CSRP3 MYBPC3 TPM1
8 nitric-oxide synthase binding GO:0050998 9.43 SCN5A SNTA1
9 titin binding GO:0031432 9.4 ACTN2 MYBPC3
10 ion channel binding GO:0044325 9.35 ACTN2 RYR2 SCN5A SNTA1 YWHAE
11 actin binding GO:0003779 9.23 ACTN2 CSRP3 MYBPC3 MYH7 MYH7B SNTA1
12 protein binding GO:0005515 10.3 ACTN2 CSRP3 DTNA LDB3 LMNA MIB1

Sources for Left Ventricular Noncompaction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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