MCID: LFT003
MIFTS: 52

Left Ventricular Noncompaction

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Left Ventricular Noncompaction

MalaCards integrated aliases for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 12 50 24 25 56 29 14 69
Left Ventricular Hypertrabeculation 12 50 25 56
Spongy Myocardium 50 25 56
Lvnc 50 24 56
Left Ventricular Myocardial Noncompaction Cardiomyopathy 25 69
Noncompaction Cardiomyopathy 25 69
Isolated Noncompaction of the Ventricular Myocardium 25
Non-Compaction of the Left Ventricular Myocardium 25
Left Ventricular Non-Compaction 25
Hypertrabeculation Syndrome 25
Honeycomb Myocardium 25
Fetal Myocardium 25
Lvht 25

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

Genetics Home Reference : 25 Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.

MalaCards based summary : Left Ventricular Noncompaction, also known as left ventricular hypertrabeculation, is related to cardiomyopathy, dilated, 1c, with or without lvnc and left ventricular noncompaction 1, with or without congenital heart defects. 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

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

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

Wikipedia : 72 Non-compaction cardiomyopathy (NCC), also called spongiform cardiomyopathy, is a rare congenital... more...

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 111)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1c, with or without lvnc 33.3 ACTN2 DTNA LDB3
2 left ventricular noncompaction 1, with or without congenital heart defects 12.4
3 left ventricular noncompaction 7 12.2
4 left ventricular noncompaction 10 12.2
5 left ventricular noncompaction 8 12.2
6 left ventricular noncompaction 2 12.2
7 left ventricular noncompaction 3, with or without dilated cardiomyopathy 12.2
8 cardiomyopathy, dilated, 1aa, with or without lvnc 11.9
9 cardiomyopathy, dilated, 1e 11.6
10 barth syndrome 11.4
11 cardiomyopathy, dilated, 1r 11.3
12 cardiomyopathy, dilated, 1d 11.3
13 dilated cardiomyopathy 1c 11.1
14 dilated cardiomyopathy 1aa 11.1
15 combined oxidative phosphorylation deficiency 31 11.1
16 3-methylglutaconic aciduria, type v 11.0
17 myopathy, x-linked, with excessive autophagy 10.9 DTNA LDB3 TAZ
18 sinoatrial node disease 10.8 HCN4 LMNA
19 benign partial epilepsy of infancy with complex partial seizures 10.8 HCN4 SCN5A
20 mylk-related thoracic aortic aneurysms and aortic dissections 10.8 LMNA MYH7 SCN5A TPM1
21 sdccag8-related bardet-biedl syndrome 10.8 LMNA MYH7 SCN5A TPM1
22 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 10.8 LMNA MYH7 SCN5A TPM1
23 sick sinus syndrome 1 10.8 RYR2 SCN5A TNNT2
24 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 10.8 ACTN2 CSRP3 MYH7 TAZ
25 squamous cell papilloma 10.8 HCN4 LMNA SCN5A
26 sudden infant death syndrome 10.7 LMNA MYH7 SCN5A TPM1
27 oesophagostomiasis 10.7 ACTC1 MYBPC3 MYH7 TNNT2
28 cardiomyopathy 10.7
29 second-degree atrioventricular block 10.7 HCN4 LMNA SCN5A
30 ventricular tachycardia, catecholaminergic polymorphic, 1 10.7 LMNA MYH7 RYR2 SCN5A
31 syne1-related emery-dreifuss muscular dystrophy 10.7 MYBPC3 MYH7 SCN5A TPM1
32 prostate malignant phyllodes tumor 10.7 HCN4 RYR2 SCN5A
33 endocardium disease 10.7 HCN4 SCN5A
34 umbilical hernia 10.7 RYR2 SCN5A TNNT2
35 ulnar hemimelia, unilateral 10.6 LDB3 LMNA PKP2 RYR2
36 ulnar hemimelia, bilateral 10.6 LDB3 LMNA PKP2 RYR2
37 tibial hemimelia, bilateral 10.6 LDB3 LMNA PKP2 RYR2
38 vesicoureteral reflux 7 10.6 PKP2 RYR2
39 atrial standstill, digenic 10.6 ACTN2 LMNA MYBPC3 SCN5A TNNT2
40 peroxisomal biogenesis disorders 10.6 MYH7 SCN5A
41 jervell and lange-nielsen syndrome 10.6 HCN4 RYR2 SCN5A
42 thyroid lymphoma 10.6 SCN5A TNNT2
43 skin fragility-woolly hair syndrome 10.6 PKP2 RYR2
44 hyperphosphatemia 10.5 HCN4 PKP2 SCN5A TPM1
45 lipodystrophy, familial partial, type 5 10.5 HCN4 SCN5A
46 encephalitis 10.4 ACTC1 MYH7
47 usher syndrome 10.3 ACTN2 LDB3 LMNA PKP2 RYR2 SCN5A
48 long qt syndrome 9 10.3 ACTC1 ACTN2 CSRP3 MYBPC3 MYH7 TAZ
49 myopathy 10.2
50 dilated cardiomyopathy 10.1

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 ACTC1 CSRP3 DTNA HCN4 LDB3 LMNA
2 growth/size/body region MP:0005378 10.1 MIB2 PLEKHM2 PRDM16 RYR2 SCN5A TNNT2
3 homeostasis/metabolism MP:0005376 10.03 TNNT2 ACTC1 CSRP3 LDB3 LMNA MIB1
4 mortality/aging MP:0010768 10 ACTC1 CSRP3 DTNA HCN4 LDB3 LMNA
5 muscle MP:0005369 9.73 LDB3 LMNA MYBPC3 MYH7 PKP2 RYR2
6 normal MP:0002873 9.28 RYR2 SCN5A TNNT2 ACTC1 HCN4 LMNA

Drugs & Therapeutics for Left Ventricular Noncompaction

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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

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 374)
id Title Authors Year
1
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. ( 28520539 )
2017
2
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature. ( 28488311 )
2017
3
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. ( 28079110 )
2017
4
Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. ( 28912186 )
2017
5
Prevalence and Prognostic Significance of Left Ventricular Noncompaction in Patients Referred for Cardiac Magnetic Resonance Imaging. ( 28899950 )
2017
6
Can Left Ventricular Noncompaction Be Acquired, and Can It Disappear? ( 28878580 )
2017
7
Bradycardia, Syncope, and Left Ventricular Noncompaction Cardiomyopathy. ( 28645472 )
2017
8
Left ventricular noncompaction cardiomyopathy. ( 28469993 )
2017
9
Left ventricular noncompaction cardiomyopathy with severe coronary artery disease in a young patient with familial hypercholesterolemia. ( 28817544 )
2017
10
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. ( 28798025 )
2017
11
Left ventricular noncompaction or hypertrophic cardiomyopathy? Both! ( 28803523 )
2017
12
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. ( 28911804 )
2017
13
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. ( 28104484 )
2017
14
Comparison of Echocardiographic Diagnostic Criteria of Left Ventricular Noncompaction in a Pediatric Population. ( 28776136 )
2017
15
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
16
Key Questions Relating to Left Ventricular Noncompaction Cardiomyopathy: Is the Emperor Still Wearing Any Clothes? ( 28395867 )
2017
17
Left Ventricular Noncompaction in Older Patients. ( 28864371 )
2017
18
Left ventricular noncompaction associated with bicuspid aortic valve and aortic coarctation. ( 28522032 )
2017
19
Left Ventricular Noncompaction Cardiomyopathy Presenting with Heart Failure in a 35-Year-Old Man. ( 28878579 )
2017
20
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. ( 28798026 )
2017
21
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction. ( 28855170 )
2017
22
Ventricular arrhythmias associated with left ventricular noncompaction: Electrophysiologic characteristics, mapping, and ablation. ( 27890738 )
2017
23
Complications Associated With Implantable Cardioverter Defibrillators in Adults With Congenital Heart Disease or Left Ventricular Noncompaction Cardiomyopathy (From the NCDR(Ar) Implantable Cardioverter-Defibrillator Registry). ( 28917495 )
2017
24
Echocardiographic characteristics of isolated left ventricular noncompaction. ( 28458700 )
2016
25
Suspected Malignant Hyperthermia During Biventricular Assist Device Implantation in a Patient With Left Ventricular Noncompaction Cardiomyopathy. ( 27842951 )
2016
26
Isolated Left Ventricular Noncompaction Cardiomyopathy: A Transient Disease? ( 27667386 )
2016
27
LVAD as a Bridge to Heart Transplantation in a Patient with Left Ventricular Noncompaction Cardiomyopathy and Advanced Heart Failure. ( 27355148 )
2016
28
Left Ventricular Noncompaction Combined With Epinephrine-Secreted Pheochromocytoma Inducing Heart Failure. ( 26973259 )
2016
29
A cortical stroke secondary to an isolated left ventricular noncompaction in a 29-year-old female. ( 27751274 )
2016
30
Fukutin gene mutations that cause left ventricular noncompaction. ( 27521547 )
2016
31
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. ( 27609553 )
2016
32
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
33
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy? ( 27561770 )
2016
34
Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. ( 27989498 )
2016
35
Left ventricular noncompaction diagnosed following Graves' disease. ( 27843800 )
2016
36
Isolated left ventricular noncompaction causing refractory heart failure. ( 26928017 )
2016
37
Case images: Diagnosis of a rare combination of hypertrophic and left ventricular noncompaction cardiomyopathy using cardiac magnetic resonance imaging. ( 27439938 )
2016
38
Genetic, Myopathic, and Diagnostic Implications of Left Ventricular Noncompaction. ( 26797382 )
2016
39
Estimation of Prevalence of the Left Ventricular Noncompaction Among Adults. ( 27448685 )
2016
40
A case of isolated left ventricular noncompaction. ( 27728033 )
2016
41
The role of cardiac computed tomography in diagnosing left ventricular noncompaction in patients with sinus node dysfunction. ( 27057981 )
2016
42
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. ( 26777414 )
2016
43
Calcified left ventricular noncompaction with complete atrioventricular block. ( 27372727 )
2016
44
Left ventricular noncompaction cardiomyopathy in end-stage heart failure patients undergoing orthotopic heart transplantation. ( 27135206 )
2016
45
The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature. ( 26881173 )
2016
46
Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction. ( 27798758 )
2016
47
Anesthetic experience of patient with isolated left ventricular noncompaction: a case report. ( 27274374 )
2016
48
Left Ventricular Noncompaction, or Is It? ( 27855807 )
2016
49
Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report. ( 27138316 )
2016
50
Left Ventricular Noncompaction: Anatomical Phenotype or Distinct Cardiomyopathy? ( 27855805 )
2016

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 ACTC1 MYH7 RYR2 SCN5A TNNT2 TPM1
2
Show member pathways
12.46 ACTN2 MYBPC3 RYR2 SCN5A TNNT2 TPM1
3 12.22 ACTC1 LMNA TNNT2 TPM1
4
Show member pathways
12.11 ACTN2 LMNA PKP2 RYR2
5 11.27 ACTC1 SCN5A TNNT2
6 11.25 ACTC1 MYH7 RYR2 TNNT2 TPM1
7 11.2 HCN4 LMNA RYR2 SCN5A
8 10.88 ACTC1 ACTN2 MYBPC3 TNNT2 TPM1
9 10.8 MYH7 MYH7B

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 actin filament GO:0005884 9.54 ACTC1 ACTN2 TPM1
2 myofibril GO:0030016 9.5 MYH7 TNNT2 TPM1
3 Z disc GO:0030018 9.5 ACTN2 CSRP3 LDB3 MYBPC3 MYH7 RYR2
4 myosin filament GO:0032982 9.43 MYBPC3 MYH7 MYH7B
5 pseudopodium GO:0031143 9.4 ACTN2 LDB3
6 cardiac myofibril GO:0097512 9.33 MYBPC3 MYH7B TNNT2
7 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 23)
id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.73 ACTN2 HCN4 MYH7 TAZ TNNT2 TPM1
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 by cardiac conduction GO:0086091 9.63 HCN4 PKP2 SCN5A
5 regulation of heart rate GO:0002027 9.62 HCN4 MYH7 RYR2 SCN5A
6 cardiac muscle tissue development GO:0048738 9.61 CSRP3 TAZ
7 regulation of cardiac muscle contraction GO:0055117 9.61 HCN4 RYR2
8 striated muscle contraction GO:0006941 9.61 DTNA MYBPC3 MYH7
9 regulation of the force of heart contraction GO:0002026 9.6 CSRP3 MYH7
10 regulation of muscle contraction GO:0006937 9.59 TNNT2 TPM1
11 positive regulation of sodium ion transport GO:0010765 9.58 PKP2 SCN5A
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 PKP2 SCN5A
13 ventricular cardiac muscle cell action potential GO:0086005 9.58 PKP2 RYR2 SCN5A
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.57 PKP2 RYR2
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.56 HCN4 SCN5A
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.55 PKP2 RYR2
17 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 MYBPC3 MYH7 PKP2 TNNT2 TPM1
18 cardiac myofibril assembly GO:0055003 9.54 ACTC1 CSRP3
19 cardiac muscle hypertrophy GO:0003300 9.52 CSRP3 RYR2
20 SA node cell action potential GO:0086015 9.51 HCN4 SCN5A
21 membrane depolarization during SA node cell action potential GO:0086046 9.49 HCN4 SCN5A
22 muscle filament sliding GO:0030049 9.43 ACTC1 ACTN2 MYBPC3 MYH7 TNNT2 TPM1
23 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 11)
id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.77 ACTN2 CSRP3 HCN4 MYBPC3 RYR2
2 ion channel activity GO:0005216 9.65 HCN4 RYR2 SCN5A
3 voltage-gated sodium channel activity GO:0005248 9.49 HCN4 SCN5A
4 myosin binding GO:0017022 9.46 ACTC1 MYBPC3
5 ion channel binding GO:0044325 9.46 ACTN2 PKP2 RYR2 SCN5A
6 muscle alpha-actinin binding GO:0051371 9.43 LDB3 MYBPC3
7 cytoskeletal protein binding GO:0008092 9.43 ACTN2 LDB3 TPM1
8 titin binding GO:0031432 9.4 ACTN2 MYBPC3
9 structural constituent of muscle GO:0008307 9.26 ACTN2 CSRP3 MYBPC3 TPM1
10 actin binding GO:0003779 9.23 ACTN2 CSRP3 MIB2 MYBPC3 MYH7 MYH7B
11 protein binding GO:0005515 10.25 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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