LVNC1
MCID: LFT021
MIFTS: 29

Left Ventricular Noncompaction 1 (LVNC1)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Left Ventricular Noncompaction 1

MalaCards integrated aliases for Left Ventricular Noncompaction 1:

Name: Left Ventricular Noncompaction 1 57 28 5
Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects 57 12
Lvnc1 57 73
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 71
Non-Compaction of Left Ventricular Myocardium Isolated Autosomal Dominant Type 1 73
Non-Compaction of Left Ventricular Myocardium with Congenital Heart Defects 73
Left Ventricular Noncompaction 1 with or Without Congenital Heart Defects 57
Left Ventricular Non-Compaction with or Without Congenital Heart Defects 73
Ventricular Noncompaction, Left, Type 1 38
Left Ventricular Non-Compaction 1 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 604169
OMIM Phenotypic Series 57 PS604169
MeSH 43 D056830
MedGen 40 C1858725
UMLS 71 C1858725

Summaries for Left Ventricular Noncompaction 1

OMIM®: 57 Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC. (604169) (Updated 08-Dec-2022)

MalaCards based summary: Left Ventricular Noncompaction 1, is also known as left ventricular noncompaction 1, with or without congenital heart defects. An important gene associated with Left Ventricular Noncompaction 1 is DTNA (Dystrobrevin Alpha). Affiliated tissues include heart and heart-ventricle, and related phenotypes are hypoplastic left heart and patent ductus arteriosus

UniProtKB/Swiss-Prot: 73 A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition.

Related Diseases for Left Ventricular Noncompaction 1

Symptoms & Phenotypes for Left Ventricular Noncompaction 1

Human phenotypes related to Left Ventricular Noncompaction 1:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic left heart 30 Very rare (1%) HP:0004383
2 patent ductus arteriosus 30 Very rare (1%) HP:0001643
3 ventricular septal defect 30 Very rare (1%) HP:0001629
4 first degree atrioventricular block 30 Very rare (1%) HP:0011705
5 palpitations 30 Very rare (1%) HP:0001962
6 chest tightness 30 Very rare (1%) HP:0031352
7 left ventricular noncompaction 30 Very rare (1%) HP:0030682
8 sudden cardiac death 30 HP:0001645
9 congestive heart failure 30 HP:0001635
10 mitral regurgitation 30 HP:0001653
11 left ventricular hypertrophy 30 HP:0001712
12 atrial fibrillation 30 HP:0005110
13 ventricular arrhythmia 30 HP:0004308
14 left ventricular noncompaction cardiomyopathy 30 HP:0011664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
sudden cardiac death
congestive heart failure
hypoplastic left heart
left ventricular hypertrophy
ventricular septal defect
more
Cardiovascular Vascular:
patent ductus arteriosus

Clinical features from OMIM®:

604169 (Updated 08-Dec-2022)

Drugs & Therapeutics for Left Ventricular Noncompaction 1

Search Clinical Trials, NIH Clinical Center for Left Ventricular Noncompaction 1

Genetic Tests for Left Ventricular Noncompaction 1

Genetic tests related to Left Ventricular Noncompaction 1:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 1 28 DTNA

Anatomical Context for Left Ventricular Noncompaction 1

Organs/tissues related to Left Ventricular Noncompaction 1:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Left Ventricular Noncompaction 1

Articles related to Left Ventricular Noncompaction 1:

(show all 16)
# Title Authors PMID Year
1
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. 57 5
29118297 2017
2
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 57 5
11238270 2001
3
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 57
21551322 2011
4
Left ventricular noncompaction. 57
19057090 2009
5
Mutations in sarcomere protein genes in left ventricular noncompaction. 57
18506004 2008
6
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 57
17611253 2007
7
Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. 57
16567565 2006
8
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. 57
15173023 2004
9
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. 57
12749056 2003
10
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. 57
12372586 2002
11
Ventricular noncompaction and distal chromosome 5q deletion. 57
10398271 1999
12
Familial isolated noncompaction of the left ventricular myocardium. 57
10393402 1999
13
Familial isolated noncompaction of ventricular myocardium. 57
10083739 1999
14
Isolated noncompaction of the myocardium in adults. 57
9005281 1997
15
Isolated noncompaction of left ventricular myocardium. A study of eight cases. 57
2372897 1990
16
Inpatient detection of cardiac-inherited disease: the impact of improving family history taking. 62
26925241 2016

Variations for Left Ventricular Noncompaction 1

ClinVar genetic disease variations for Left Ventricular Noncompaction 1:

5 (show top 50) (show all 263)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DTNA NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) SNV Pathogenic
8306 rs104894654 GRCh37: 18:32374214-32374214
GRCh38: 18:34794250-34794250
2 DTNA NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) SNV Pathogenic
623092 rs775975702 GRCh37: 18:32346003-32346003
GRCh38: 18:34766039-34766039
3 DTNA NM_001386795.1(DTNA):c.1692G>C (p.Glu564Asp) SNV Likely Pathogenic
1224303 GRCh37: 18:32443975-32443975
GRCh38: 18:34864011-34864011
4 DTNA NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) SNV Conflicting Interpretations Of Pathogenicity
374197 rs1057518968 GRCh37: 18:32374029-32374029
GRCh38: 18:34794065-34794065
5 DTNA NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) SNV Conflicting Interpretations Of Pathogenicity
191656 rs138143719 GRCh37: 18:32459560-32459560
GRCh38: 18:34879596-34879596
6 DTNA NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) SNV Conflicting Interpretations Of Pathogenicity
46431 rs139872140 GRCh37: 18:32418752-32418752
GRCh38: 18:34838788-34838788
7 DTNA NM_001386795.1(DTNA):c.536C>T (p.Thr179Met) SNV Uncertain Significance
808388 rs752144270 GRCh37: 18:32392010-32392010
GRCh38: 18:34812046-34812046
8 DTNA NM_001386795.1(DTNA):c.537G>A (p.Thr179=) SNV Uncertain Significance
389895 rs11877640 GRCh37: 18:32392011-32392011
GRCh38: 18:34812047-34812047
9 PKP2 NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) SNV Uncertain Significance
464407 rs144401285 GRCh37: 12:33030804-33030804
GRCh38: 12:32877870-32877870
10 MYPN NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln) SNV Uncertain Significance
574808 rs372903698 GRCh37: 10:69934314-69934314
GRCh38: 10:68174557-68174557
11 ACTN2 NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) SNV Uncertain Significance
532043 rs778713804 GRCh37: 1:236912533-236912533
GRCh38: 1:236749233-236749233
12 MYH6 NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) SNV Uncertain Significance
264214 rs373629059 GRCh37: 14:23853697-23853697
GRCh38: 14:23384488-23384488
13 JUP NM_002230.4(JUP):c.959G>A (p.Arg320His) SNV Uncertain Significance
409982 rs781965392 GRCh37: 17:39921270-39921270
GRCh38: 17:41765018-41765018
14 DTNA NM_001386795.1(DTNA):c.829G>A (p.Gly277Ser) SNV Uncertain Significance
1339180 GRCh37: 18:32398247-32398247
GRCh38: 18:34818283-34818283
15 DTNA NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) SNV Uncertain Significance
140609 GRCh37: 18:32462094-32462094
GRCh38: 18:34882130-34882130
16 LDB3, LOC110121486 NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) SNV Uncertain Significance
522902 rs915830221 GRCh37: 10:88446911-88446911
GRCh38: 10:86687154-86687154
17 SCN5A NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp) SNV Uncertain Significance
978333 rs2061011355 GRCh37: 3:38592049-38592049
GRCh38: 3:38550558-38550558
18 DTNA NM_001386795.1(DTNA):c.*2581G>A SNV Uncertain Significance
1699447 GRCh37: 18:32470279-32470279
GRCh38: 18:34890315-34890315
19 DTNA NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys) SNV Uncertain Significance
1721774 GRCh37: 18:32345961-32345961
GRCh38: 18:34765997-34765997
20 DTNA NM_001386795.1(DTNA):c.977A>G (p.Lys326Arg) SNV Uncertain Significance
1718019 GRCh37: 18:32400855-32400855
GRCh38: 18:34820891-34820891
21 DTNA NM_001386795.1(DTNA):c.2194C>G (p.Pro732Ala) SNV Uncertain Significance
1719224 GRCh37: 18:32462064-32462064
GRCh38: 18:34882100-34882100
22 DTNA NM_001386795.1(DTNA):c.320C>A (p.Ser107Tyr) SNV Uncertain Significance
1713306 GRCh37: 18:32374172-32374172
GRCh38: 18:34794208-34794208
23 DTNA NM_001386795.1(DTNA):c.515G>A (p.Arg172Gln) SNV Uncertain Significance
935064 rs774940705 GRCh37: 18:32391989-32391989
GRCh38: 18:34812025-34812025
24 DTNA NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly) SNV Uncertain Significance
937546 rs773407468 GRCh37: 18:32374039-32374039
GRCh38: 18:34794075-34794075
25 DTNA NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala) SNV Uncertain Significance
191648 rs200736432 GRCh37: 18:32374147-32374147
GRCh38: 18:34794183-34794183
26 DTNA NM_001386795.1(DTNA):c.433A>T (p.Met145Leu) SNV Uncertain Significance
943819 rs982526159 GRCh37: 18:32386253-32386253
GRCh38: 18:34806289-34806289
27 DTNA NM_001386795.1(DTNA):c.969G>C (p.Gln323His) SNV Uncertain Significance
944756 rs201472116 GRCh37: 18:32400847-32400847
GRCh38: 18:34820883-34820883
28 DTNA NM_001386795.1(DTNA):c.1260G>T (p.Gln420His) SNV Uncertain Significance
947771 rs1603075327 GRCh37: 18:32418715-32418715
GRCh38: 18:34838751-34838751
29 DTNA NM_001386795.1(DTNA):c.604-7T>A SNV Uncertain Significance
952033 rs766599616 GRCh37: 18:32395866-32395866
GRCh38: 18:34815902-34815902
30 DTNA NM_001386795.1(DTNA):c.481G>A (p.Val161Met) SNV Uncertain Significance
953555 rs1302999147 GRCh37: 18:32391955-32391955
GRCh38: 18:34811991-34811991
31 DTNA NM_001386795.1(DTNA):c.842G>A (p.Ser281Asn) SNV Uncertain Significance
965191 rs2095638594 GRCh37: 18:32398260-32398260
GRCh38: 18:34818296-34818296
32 JUP NM_002230.4(JUP):c.647G>A (p.Arg216Gln) SNV Uncertain Significance
536629 rs782498980 GRCh37: 17:39925281-39925281
GRCh38: 17:41769029-41769029
33 DTNA NM_001386795.1(DTNA):c.1011A>C (p.Arg337Ser) SNV Uncertain Significance
999834 rs2095889742 GRCh37: 18:32407566-32407566
GRCh38: 18:34827602-34827602
34 DTNA NM_001386795.1(DTNA):c.894G>T (p.Lys298Asn) SNV Uncertain Significance
999841 rs2095696064 GRCh37: 18:32400772-32400772
GRCh38: 18:34820808-34820808
35 DTNA NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile) SNV Uncertain Significance
1002442 rs774372435 GRCh37: 18:32407583-32407583
GRCh38: 18:34827619-34827619
36 DTNA NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro) SNV Uncertain Significance
1016789 rs2096416305 GRCh37: 18:32428265-32428265
GRCh38: 18:34848301-34848301
37 DTNA NM_001386795.1(DTNA):c.938G>A (p.Arg313His) SNV Uncertain Significance
1017955 rs780636786 GRCh37: 18:32400816-32400816
GRCh38: 18:34820852-34820852
38 DTNA NM_001386795.1(DTNA):c.154C>G (p.Leu52Val) SNV Uncertain Significance
1022023 rs780815924 GRCh37: 18:32374006-32374006
GRCh38: 18:34794042-34794042
39 DTNA NM_001386795.1(DTNA):c.322A>G (p.Ile108Val) SNV Uncertain Significance
1034422 rs1201061306 GRCh37: 18:32374174-32374174
GRCh38: 18:34794210-34794210
40 DTNA NM_001386795.1(DTNA):c.232G>A (p.Val78Met) SNV Uncertain Significance
1035846 rs1175132407 GRCh37: 18:32374084-32374084
GRCh38: 18:34794120-34794120
41 DTNA NM_001386795.1(DTNA):c.1291G>A (p.Asp431Asn) SNV Uncertain Significance
1052246 GRCh37: 18:32418746-32418746
GRCh38: 18:34838782-34838782
42 DTNA NM_001386795.1(DTNA):c.1636C>T (p.Arg546Trp) SNV Uncertain Significance
1061962 GRCh37: 18:32438352-32438352
GRCh38: 18:34858388-34858388
43 DTNA NM_001386795.1(DTNA):c.1529A>G (p.Asn510Ser) SNV Uncertain Significance
1415034 GRCh37: 18:32431889-32431889
GRCh38: 18:34851925-34851925
44 DTNA NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe) SNV Uncertain Significance
1428717 GRCh37: 18:32345945-32345945
GRCh38: 18:34765981-34765981
45 DTNA NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe) SNV Uncertain Significance
1439673 GRCh37: 18:32335944-32335944
GRCh38: 18:34755980-34755980
46 DTNA NM_001386795.1(DTNA):c.1936G>T (p.Val646Leu) SNV Uncertain Significance
1466836 GRCh37: 18:32457715-32457715
GRCh38: 18:34877751-34877751
47 DTNA NM_001386795.1(DTNA):c.1651C>T (p.Arg551Cys) SNV Uncertain Significance
1444824 GRCh37: 18:32443934-32443934
GRCh38: 18:34863970-34863970
48 DTNA NM_001386795.1(DTNA):c.1637G>T (p.Arg546Leu) SNV Uncertain Significance
1491090 GRCh37: 18:32438353-32438353
GRCh38: 18:34858389-34858389
49 DTNA NM_001386795.1(DTNA):c.1345T>C (p.Cys449Arg) SNV Uncertain Significance
1493739 GRCh37: 18:32418800-32418800
GRCh38: 18:34838836-34838836
50 DTNA NM_001386795.1(DTNA):c.2172G>C (p.Glu724Asp) SNV Uncertain Significance
1495770 GRCh37: 18:32462042-32462042
GRCh38: 18:34882078-34882078

Expression for Left Ventricular Noncompaction 1

Search GEO for disease gene expression data for Left Ventricular Noncompaction 1.

Pathways for Left Ventricular Noncompaction 1

GO Terms for Left Ventricular Noncompaction 1

Sources for Left Ventricular Noncompaction 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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