MCID: LFT021
MIFTS: 27

Left Ventricular Noncompaction 1

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

Aliases & Classifications for Left Ventricular Noncompaction 1

MalaCards integrated aliases for Left Ventricular Noncompaction 1:

Name: Left Ventricular Noncompaction 1 57 29 6
Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects 57 13
Lvnc1 57 75
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 73
Non-Compaction of Left Ventricular Myocardium Isolated Autosomal Dominant Type 1 75
Non-Compaction of Left Ventricular Myocardium with Congenital Heart Defects 75
Left Ventricular Noncompaction 1 with or Without Congenital Heart Defects 57
Left Ventricular Non-Compaction with or Without Congenital Heart Defects 75
Isolated Noncompaction of the Ventricular Myocardium 44
Ventricular Noncompaction, Left, Type 1 40
Left Ventricular Non-Compaction 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
left ventricular noncompaction 1:
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Left Ventricular Noncompaction 1, also known as left ventricular noncompaction 1, with or without congenital heart defects, is related to left ventricular noncompaction and barth syndrome. An important gene associated with Left Ventricular Noncompaction 1 is DTNA (Dystrobrevin Alpha). Affiliated tissues include heart, and related phenotypes are ventricular septal defect and congestive heart failure

UniProtKB/Swiss-Prot : 75 Left ventricular non-compaction 1: 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

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 11.4
2 barth syndrome 10.0
3 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
4 long qt syndrome 10.0
5 myopathy 10.0
6 fetal edema 10.0
7 hydrops fetalis 10.0

Graphical network of the top 20 diseases related to Left Ventricular Noncompaction 1:



Diseases related to Left Ventricular Noncompaction 1

Symptoms & Phenotypes for Left Ventricular Noncompaction 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Left Ventricular Noncompaction 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 congestive heart failure 32 HP:0001635
3 patent ductus arteriosus 32 HP:0001643
4 sudden cardiac death 32 HP:0001645
5 mitral regurgitation 32 HP:0001653
6 left ventricular hypertrophy 32 HP:0001712
7 ventricular arrhythmia 32 HP:0004308
8 hypoplastic left heart 32 HP:0004383
9 atrial fibrillation 32 HP:0005110
10 left ventricular noncompaction cardiomyopathy 32 HP:0011664
11 left ventricular noncompaction 32 HP:0030682

Drugs & Therapeutics for Left Ventricular Noncompaction 1

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

Cochrane evidence based reviews: isolated noncompaction of the ventricular myocardium

Genetic Tests for Left Ventricular Noncompaction 1

Genetic tests related to Left Ventricular Noncompaction 1:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 1 29 DTNA

Anatomical Context for Left Ventricular Noncompaction 1

MalaCards organs/tissues related to Left Ventricular Noncompaction 1:

41
Heart

Publications for Left Ventricular Noncompaction 1

Articles related to Left Ventricular Noncompaction 1:

# Title Authors Year
1
Successful implantation of an intracardiac defibrillator in an infant with long QT syndrome and isolated noncompaction of the ventricular myocardium. ( 22441564 )
2013
2
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. ( 21932011 )
2011
3
Transplacental digitalization for nonimmune hydrops fetalis caused by isolated noncompaction of the ventricular myocardium. ( 17384050 )
2007

Variations for Left Ventricular Noncompaction 1

ClinVar genetic disease variations for Left Ventricular Noncompaction 1:

6
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 DTNA NM_001390.4(DTNA): c.362C> T (p.Pro121Leu) single nucleotide variant Pathogenic rs104894654 GRCh37 Chromosome 18, 32374214: 32374214
2 DTNA NM_001390.4(DTNA): c.362C> T (p.Pro121Leu) single nucleotide variant Pathogenic rs104894654 GRCh38 Chromosome 18, 34794250: 34794250
3 DTNA NM_032978.6(DTNA): c.316C> G (p.Gln106Glu) single nucleotide variant Uncertain significance rs140768365 GRCh37 Chromosome 18, 32374168: 32374168
4 DTNA NM_032978.6(DTNA): c.316C> G (p.Gln106Glu) single nucleotide variant Uncertain significance rs140768365 GRCh38 Chromosome 18, 34794204: 34794204
5 DTNA NM_032978.6(DTNA): c.955A> G (p.Met319Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141981161 GRCh38 Chromosome 18, 34820869: 34820869
6 DTNA NM_032978.6(DTNA): c.955A> G (p.Met319Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141981161 GRCh37 Chromosome 18, 32400833: 32400833
7 DTNA NM_032975.3(DTNA): c.1787G> A (p.Arg596Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138143719 GRCh38 Chromosome 18, 34879596: 34879596
8 DTNA NM_032975.3(DTNA): c.1787G> A (p.Arg596Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138143719 GRCh37 Chromosome 18, 32459560: 32459560
9 DTNA NM_001390.4(DTNA): c.784C> T (p.His262Tyr) single nucleotide variant Uncertain significance rs369043538 GRCh38 Chromosome 18, 34818238: 34818238
10 DTNA NM_001390.4(DTNA): c.784C> T (p.His262Tyr) single nucleotide variant Uncertain significance rs369043538 GRCh37 Chromosome 18, 32398202: 32398202
11 DTNA NM_001390.4(DTNA): c.1373G> C (p.Ser458Thr) single nucleotide variant Benign/Likely benign rs190619495 GRCh38 Chromosome 18, 34851850: 34851850
12 DTNA NM_001390.4(DTNA): c.1373G> C (p.Ser458Thr) single nucleotide variant Benign/Likely benign rs190619495 GRCh37 Chromosome 18, 32431814: 32431814
13 DTNA NM_032978.6(DTNA): c.1002-6T> C single nucleotide variant Benign/Likely benign rs200208281 GRCh38 Chromosome 18, 34827587: 34827587
14 DTNA NM_032978.6(DTNA): c.1002-6T> C single nucleotide variant Benign/Likely benign rs200208281 GRCh37 Chromosome 18, 32407551: 32407551
15 DTNA NM_032978.6(DTNA): c.1314G> A (p.Ala438=) single nucleotide variant Likely benign rs144776465 GRCh37 Chromosome 18, 32428317: 32428317
16 DTNA NM_032978.6(DTNA): c.1314G> A (p.Ala438=) single nucleotide variant Likely benign rs144776465 GRCh38 Chromosome 18, 34848353: 34848353
17 DTNA NM_001390.4(DTNA): c.537G> A (p.Thr179=) single nucleotide variant Conflicting interpretations of pathogenicity rs11877640 GRCh37 Chromosome 18, 32392011: 32392011
18 DTNA NM_001390.4(DTNA): c.537G> A (p.Thr179=) single nucleotide variant Conflicting interpretations of pathogenicity rs11877640 GRCh38 Chromosome 18, 34812047: 34812047
19 DTNA NM_032978.6(DTNA): c.209T> C (p.Leu70Pro) single nucleotide variant Uncertain significance rs1060503523 GRCh37 Chromosome 18, 32374061: 32374061
20 DTNA NM_032978.6(DTNA): c.209T> C (p.Leu70Pro) single nucleotide variant Uncertain significance rs1060503523 GRCh38 Chromosome 18, 34794097: 34794097
21 DTNA NM_032978.6(DTNA): c.1093C> T (p.Pro365Ser) single nucleotide variant Uncertain significance rs768198248 GRCh37 Chromosome 18, 32418065: 32418065
22 DTNA NM_032978.6(DTNA): c.1093C> T (p.Pro365Ser) single nucleotide variant Uncertain significance rs768198248 GRCh38 Chromosome 18, 34838101: 34838101
23 DTNA NM_032978.6(DTNA): c.239G> A (p.Arg80His) single nucleotide variant Uncertain significance rs774912781 GRCh38 Chromosome 18, 34794127: 34794127
24 DTNA NM_032978.6(DTNA): c.239G> A (p.Arg80His) single nucleotide variant Uncertain significance rs774912781 GRCh37 Chromosome 18, 32374091: 32374091
25 DTNA NM_032978.6(DTNA): c.906A> C (p.Ala302=) single nucleotide variant Likely benign rs1060504938 GRCh38 Chromosome 18, 34820820: 34820820
26 DTNA NM_032978.6(DTNA): c.906A> C (p.Ala302=) single nucleotide variant Likely benign rs1060504938 GRCh37 Chromosome 18, 32400784: 32400784
27 DTNA NM_032978.6(DTNA): c.1161A> G (p.Lys387=) single nucleotide variant Likely benign rs752820082 GRCh38 Chromosome 18, 34838169: 34838169
28 DTNA NM_032978.6(DTNA): c.1161A> G (p.Lys387=) single nucleotide variant Likely benign rs752820082 GRCh37 Chromosome 18, 32418133: 32418133
29 DTNA NM_032978.6(DTNA): c.1277G> A (p.Arg426Gln) single nucleotide variant Uncertain significance rs777787083 GRCh38 Chromosome 18, 34848316: 34848316
30 DTNA NM_032978.6(DTNA): c.1277G> A (p.Arg426Gln) single nucleotide variant Uncertain significance rs777787083 GRCh37 Chromosome 18, 32428280: 32428280
31 DTNA NM_032978.6(DTNA): c.371A> G (p.His124Arg) single nucleotide variant Uncertain significance rs150147476 GRCh38 Chromosome 18, 34806227: 34806227
32 DTNA NM_032978.6(DTNA): c.371A> G (p.His124Arg) single nucleotide variant Uncertain significance rs150147476 GRCh37 Chromosome 18, 32386191: 32386191
33 DTNA NM_001390.4(DTNA): c.944C> G (p.Pro315Arg) single nucleotide variant Uncertain significance rs138085660 GRCh37 Chromosome 18, 32400822: 32400822
34 DTNA NM_001390.4(DTNA): c.944C> G (p.Pro315Arg) single nucleotide variant Uncertain significance rs138085660 GRCh38 Chromosome 18, 34820858: 34820858
35 DTNA NM_032978.6(DTNA): c.877-6T> C single nucleotide variant Likely benign GRCh37 Chromosome 18, 32400749: 32400749
36 DTNA NM_032978.6(DTNA): c.877-6T> C single nucleotide variant Likely benign GRCh38 Chromosome 18, 34820785: 34820785
37 DTNA NM_032978.6(DTNA): c.1513G> T (p.Ala505Ser) single nucleotide variant Uncertain significance rs746736894 GRCh38 Chromosome 18, 34858355: 34858355
38 DTNA NM_032978.6(DTNA): c.1513G> T (p.Ala505Ser) single nucleotide variant Uncertain significance rs746736894 GRCh37 Chromosome 18, 32438319: 32438319
39 DTNA NM_032978.6(DTNA): c.67+8T> C single nucleotide variant Likely benign rs979990151 GRCh38 Chromosome 18, 34756051: 34756051
40 DTNA NM_032978.6(DTNA): c.67+8T> C single nucleotide variant Likely benign rs979990151 GRCh37 Chromosome 18, 32336015: 32336015
41 DTNA NM_032978.6(DTNA): c.148T> G (p.Leu50Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 34766041: 34766041
42 DTNA NM_032978.6(DTNA): c.148T> G (p.Leu50Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 32346005: 32346005
43 DTNA NM_032978.6(DTNA): c.1082G> A (p.Arg361Lys) single nucleotide variant Uncertain significance rs776353848 GRCh37 Chromosome 18, 32407637: 32407637
44 DTNA NM_032978.6(DTNA): c.1082G> A (p.Arg361Lys) single nucleotide variant Uncertain significance rs776353848 GRCh38 Chromosome 18, 34827673: 34827673
45 DTNA NM_032978.6(DTNA): c.1389C> T (p.Ile463=) single nucleotide variant Likely benign rs145061501 GRCh37 Chromosome 18, 32431839: 32431839
46 DTNA NM_032978.6(DTNA): c.1389C> T (p.Ile463=) single nucleotide variant Likely benign rs145061501 GRCh38 Chromosome 18, 34851875: 34851875
47 DTNA NM_032978.6(DTNA): c.126G> A (p.Arg42=) single nucleotide variant Likely benign rs376001633 GRCh38 Chromosome 18, 34766019: 34766019
48 DTNA NM_032978.6(DTNA): c.126G> A (p.Arg42=) single nucleotide variant Likely benign rs376001633 GRCh37 Chromosome 18, 32345983: 32345983
49 DTNA NM_001198939.1(DTNA): c.978G> A (p.Lys326=) single nucleotide variant Likely benign rs200830541 GRCh38 Chromosome 18, 34820892: 34820892
50 DTNA NM_001198939.1(DTNA): c.978G> A (p.Lys326=) single nucleotide variant Likely benign rs200830541 GRCh37 Chromosome 18, 32400856: 32400856

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

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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