MCID: LFT003
MIFTS: 52

Left Ventricular Noncompaction

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

Aliases & Classifications for Left Ventricular Noncompaction

MalaCards integrated aliases for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 12 49 24 55 36 28 14 69
Left Ventricular Hypertrabeculation 12 49 24 55
Spongy Myocardium 49 24 55
Left Ventricular Myocardial Noncompaction Cardiomyopathy 24 69
Noncompaction Cardiomyopathy 24 69
Lvnc 49 55
Isolated Noncompaction of the Ventricular Myocardium 24
Non-Compaction of the Left Ventricular Myocardium 24
Left Ventricular Non-Compaction 24
Hypertrabeculation Syndrome 24
Honeycomb Myocardium 24
Fetal Myocardium 24
Lvht 24

Characteristics:

Orphanet epidemiological data:

55
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 55 ORPHA54260
UMLS via Orphanet 70 C1960469
ICD10 via Orphanet 33 I42.8
KEGG 36 H01216

Summaries for Left Ventricular Noncompaction

Genetics Home Reference : 24 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, 1e and barth syndrome. An important gene associated with Left Ventricular Noncompaction is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac muscle contraction and Cardiac conduction. Affiliated tissues include heart, kidney and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 49 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 1 Left Ventricular Noncompaction 2
Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 8
Left Ventricular Noncompaction 10

Diseases related to Left Ventricular Noncompaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 33.4 LMNA MYH7 TPM1
2 barth syndrome 33.2 DTNA LDB3 TAZ
3 myopathy 30.9 LDB3 LMNA MYH7 TAZ TTN
4 hypertrophic cardiomyopathy 30.7 ACTC1 ACTN2 LMNA MYBPC3 MYH7 TAZ
5 muscular dystrophy, duchenne type 30.5 DTNA TNNT2 TTN
6 cardiac conduction defect 30.5 MYBPC3 MYH7
7 ebstein anomaly 30.3 MYH7 TPM1
8 dilated cardiomyopathy 30.2 ACTC1 ACTN2 LDB3 LMNA MYBPC3 MYH7
9 heart disease 30.1 ACTC1 LMNA MYBPC3 MYH7 PKP2 TAZ
10 left ventricular noncompaction 1 12.6
11 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.4
12 left ventricular noncompaction 7 12.4
13 left ventricular noncompaction 8 12.4
14 left ventricular noncompaction 10 12.4
15 left ventricular noncompaction 2 12.3
16 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.3
17 cardiomyopathy, dilated, 1d 11.5
18 cardiomyopathy, dilated, 1r 11.5
19 combined oxidative phosphorylation deficiency 31 11.2
20 3-methylglutaconic aciduria, type v 11.1
21 endocardial fibroelastosis 10.6 ACTN2 MYH7 TAZ
22 myopathy, myofibrillar, 4 10.6 ACTN2 DTNA LDB3
23 second-degree atrioventricular block 10.6 HCN4 LMNA
24 myxoid leiomyosarcoma 10.6 ACTC1 YWHAE
25 myopathy, spheroid body 10.6 LDB3 MYH7 TTN
26 cardiomyopathy, familial hypertrophic, 1 10.5 MYBPC3 MYH7 TPM1
27 muscular dystrophy, limb-girdle, type 2j 10.5 LDB3 TTN
28 cardiomyopathy, familial hypertrophic, 4 10.4 MYBPC3 TTN
29 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 LDB3 LMNA PKP2 TTN
30 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.4 LDB3 LMNA PKP2 TTN
31 restrictive cardiomyopathy 10.4 ACTC1 MYBPC3 MYH7 TNNT2 TTN
32 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 LDB3 LMNA PKP2 TTN
33 myopathy, myofibrillar, 3 10.4 LDB3 TTN
34 dextrocardia 10.3 ACTC1 TNNT2
35 arrhythmogenic right ventricular cardiomyopathy 10.3 ACTN2 LDB3 LMNA PKP2 TTN
36 atrial standstill 1 10.2 ACTN2 LMNA MYBPC3 MYH7 PKP2 TAZ
37 peripartum cardiomyopathy 10.2
38 intrinsic cardiomyopathy 10.1 ACTC1 LMNA MYBPC3 MYH7 PKP2 TNNT2
39 angina pectoris 10.1
40 cor triatriatum 10.1
41 atrial fibrillation 10.1
42 ventricular septal defect 10.1
43 long qt syndrome 10.1
44 double-orifice mitral valve 10.1
45 sotos syndrome 1 10.0
46 fibrosis of extraocular muscles, congenital, 1 10.0
47 fabry disease 10.0
48 ventricular fibrillation, paroxysmal familial, 1 10.0
49 myocardial infarction 10.0
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 YWHAE MYBPC3 ACTC1 MYH7 PKP2 DTNA
2 homeostasis/metabolism MP:0005376 10.03 YWHAE MIB2 MYBPC3 ACTC1 PKP2 PLEKHM2
3 mortality/aging MP:0010768 9.97 YWHAE MIB2 ACTC1 PKP2 DTNA PLEKHM2
4 muscle MP:0005369 9.7 YWHAE MYBPC3 ACTC1 MYH7 PKP2 DTNA
5 normal MP:0002873 9.23 TTN MIB2 ACTC1 HCN4 PRDM16 TNNT2

Drugs & Therapeutics for Left Ventricular Noncompaction

Interventional clinical trials:


# 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 Prognosis of Isolated Left Ventricular Non-compaction in Adults Recruiting NCT02885363
5 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
6 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
7 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:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 28

Anatomical Context for Left Ventricular Noncompaction

MalaCards organs/tissues related to Left Ventricular Noncompaction:

38
Heart, Kidney, Testes

Publications for Left Ventricular Noncompaction

Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 385)
# Title Authors Year
1
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
2
Left Ventricular Noncompaction: From Physiologic Remodeling to NoncompactionA Cardiomyopathy. ( 29447732 )
2018
3
The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery. ( 29203216 )
2018
4
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
5
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature. ( 28488311 )
2017
6
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. ( 28520539 )
2017
7
Key Questions Relating to Left Ventricular Noncompaction Cardiomyopathy: Is the Emperor Still Wearing Any Clothes? ( 28395867 )
2017
8
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. ( 28911804 )
2017
9
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
10
Left Ventricular Noncompaction Cardiomyopathy and Recurrent Polymorphic Ventricular Tachycardia: A Case Report and Literature Review. ( 29035186 )
2017
11
Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. ( 28912186 )
2017
12
Bradycardia, Syncope, and Left Ventricular Noncompaction Cardiomyopathy. ( 28645472 )
2017
13
Ischemic Stroke in a Young Patient Heralding a Left Ventricular Noncompaction Cardiomyopathy. ( 28966588 )
2017
14
Can Left Ventricular Noncompaction Be Acquired, and Can It Disappear? ( 28878580 )
2017
15
Left Ventricular Noncompaction Cardiomyopathy Presenting with Heart Failure in a 35-Year-Old Man. ( 28878579 )
2017
16
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. ( 28798026 )
2017
17
Comparison of Echocardiographic Diagnostic Criteria of Left Ventricular Noncompaction in a Pediatric Population. ( 28776136 )
2017
18
Ventricular arrhythmias associated with left ventricular noncompaction: Electrophysiologic characteristics, mapping, and ablation. ( 27890738 )
2017
19
Left ventricular noncompaction cardiomyopathy. ( 28469993 )
2017
20
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. ( 28079110 )
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
Is Left Ventricular Noncompaction a Trait, Phenotype, or Disease? The Evidence Points to Phenotype. ( 29212902 )
2017
23
Acute Kidney Infarction Due to Left Ventricular Thrombus Embolization In Patient with Isolated Left Ventricular Noncompaction: A Case Report. ( 29272223 )
2017
24
Left Ventricular Noncompaction in Older Patients. ( 28864371 )
2017
25
Left ventricular noncompaction or hypertrophic cardiomyopathy? Both! ( 28803523 )
2017
26
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. ( 28104484 )
2017
27
Genetic Testing in Pediatric Left Ventricular Noncompaction. ( 29212898 )
2017
28
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. ( 28798025 )
2017
29
Prevalence and Prognostic Significance of Left Ventricular Noncompaction in Patients Referred for Cardiac Magnetic Resonance Imaging. ( 28899950 )
2017
30
Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy. ( 29176328 )
2017
31
Left ventricular noncompaction associated with bicuspid aortic valve and aortic coarctation. ( 28522032 )
2017
32
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. ( 29118297 )
2017
33
Response by Towbin and Jefferies to Letter Regarding Article, "Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism". ( 29217716 )
2017
34
Left ventricular noncompaction cardiomyopathy with severe coronary artery disease in a young patient with familial hypercholesterolemia. ( 28817544 )
2017
35
Case images: Diagnosis of a rare combination of hypertrophic and left ventricular noncompaction cardiomyopathy using cardiac magnetic resonance imaging. ( 27439938 )
2016
36
Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction. ( 27798758 )
2016
37
Isolated left ventricular noncompaction causing refractory heart failure. ( 26928017 )
2016
38
Left ventricular noncompaction: A rare indication for pediatric heart transplantation. ( 26777414 )
2016
39
Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report. ( 27138316 )
2016
40
Left Ventricular Noncompaction Combined With Epinephrine-Secreted Pheochromocytoma Inducing Heart Failure. ( 26973259 )
2016
41
A case of isolated left ventricular noncompaction. ( 27728033 )
2016
42
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. ( 27609553 )
2016
43
Calcified left ventricular noncompaction with complete atrioventricular block. ( 27372727 )
2016
44
Genetic, Myopathic, and Diagnostic Implications of Left Ventricular Noncompaction. ( 26797382 )
2016
45
When it rains, it pours: Peripartum cardiomyopathy with features of left-ventricular noncompaction in a hemodialysis patient. ( 27147549 )
2016
46
The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature. ( 26881173 )
2016
47
Left ventricular noncompaction diagnosed following Graves' disease. ( 27843800 )
2016
48
Echocardiographic characteristics of isolated left ventricular noncompaction. ( 28458700 )
2016
49
Estimation of Prevalence of the Left Ventricular Noncompaction Among Adults. ( 27448685 )
2016
50
Left Ventricular Noncompaction, or Is It? ( 27855807 )
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 KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

GO Terms for Left Ventricular Noncompaction

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.55 ACTN2 LDB3 MYBPC3 MYH7 TTN
2 actin filament GO:0005884 9.5 ACTC1 ACTN2 TPM1
3 muscle myosin complex GO:0005859 9.46 MYH7 TTN
4 I band GO:0031674 9.43 ACTC1 TTN
5 myosin filament GO:0032982 9.43 MYBPC3 MYH7 MYH7B
6 pseudopodium GO:0031143 9.37 ACTN2 LDB3
7 cardiac myofibril GO:0097512 9.13 MYBPC3 MYH7B TNNT2
8 sarcomere GO:0030017 9.1 ACTC1 ACTN2 MYBPC3 MYH7 TNNT2 TPM1
9 cytosol GO:0005829 10.18 ACTC1 ACTN2 LMNA MIB1 MIB2 MYBPC3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.72 ACTN2 LDB3 MYBPC3 TPM1 TTN
2 muscle contraction GO:0006936 9.7 ACTN2 HCN4 MYH7 TAZ TNNT2 TPM1
3 striated muscle contraction GO:0006941 9.67 DTNA MYBPC3 MYH7 TTN
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 MYBPC3 MYH7 PKP2 TNNT2 TPM1
5 positive regulation of ATPase activity GO:0032781 9.61 MYBPC3 TNNT2 TPM1
6 regulation of heart rate by cardiac conduction GO:0086091 9.58 HCN4 PKP2 YWHAE
7 regulation of muscle contraction GO:0006937 9.51 TNNT2 TPM1
8 cardiac muscle contraction GO:0060048 9.5 ACTC1 MYBPC3 MYH7 TAZ TNNT2 TPM1
9 cardiac myofibril assembly GO:0055003 9.49 ACTC1 TTN
10 cardiac muscle tissue morphogenesis GO:0055008 9.48 ACTC1 TTN
11 skeletal muscle thin filament assembly GO:0030240 9.46 ACTC1 TTN
12 muscle filament sliding GO:0030049 9.17 ACTC1 ACTN2 MYBPC3 MYH7 TNNT2 TPM1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.93 ACTN2 HCN4 MYBPC3 TPM1 TTN YWHAE
2 ion channel binding GO:0044325 9.61 ACTN2 PKP2 YWHAE
3 cytoskeletal protein binding GO:0008092 9.5 ACTN2 LDB3 TPM1
4 actin binding GO:0003779 9.5 ACTN2 MIB2 MYBPC3 MYH7 MYH7B TNNT2
5 myosin binding GO:0017022 9.48 ACTC1 MYBPC3
6 structural constituent of muscle GO:0008307 9.46 ACTN2 MYBPC3 TPM1 TTN
7 muscle alpha-actinin binding GO:0051371 9.43 LDB3 MYBPC3 TTN
8 titin binding GO:0031432 9.4 ACTN2 MYBPC3
9 structural molecule activity conferring elasticity GO:0097493 9.37 MYBPC3 TTN
10 actin filament binding GO:0051015 9.1 ACTN2 MYBPC3 MYH7 MYH7B TPM1 TTN

Sources for Left Ventricular Noncompaction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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