LVNC1
MCID: LFT021
MIFTS: 30

Left Ventricular Noncompaction 1 (LVNC1)

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

Aliases & Classifications for Left Ventricular Noncompaction 1

MalaCards integrated aliases for Left Ventricular Noncompaction 1:

Name: Left Ventricular Noncompaction 1 58 30 6
Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects 58 13
Lvnc1 58 76
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 74
Non-Compaction of Left Ventricular Myocardium Isolated Autosomal Dominant Type 1 76
Non-Compaction of Left Ventricular Myocardium with Congenital Heart Defects 76
Left Ventricular Noncompaction 1 with or Without Congenital Heart Defects 58
Left Ventricular Non-Compaction with or Without Congenital Heart Defects 76
Isolated Noncompaction of the Ventricular Myocardium 45
Ventricular Noncompaction, Left, Type 1 41
Left Ventricular Non-Compaction 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
left ventricular noncompaction 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Left Ventricular Noncompaction 1

OMIM : 58 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 sudden cardiac death and patent ductus arteriosus

UniProtKB/Swiss-Prot : 76 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 32.2 DTNA LDB3
2 barth syndrome 29.7 DTNA LDB3
3 atrial standstill 1 10.1
4 ventricular fibrillation, paroxysmal familial, 1 10.1
5 lymphatic malformation 7 10.1
6 muscle disorders 10.1
7 atrial fibrillation 10.1
8 long qt syndrome 10.1
9 myopathy 10.1
10 rere-related disorders 10.1
11 fetal edema 10.1
12 hydrops fetalis 10.1
13 myopathy, myofibrillar, 4 9.7 DTNA LDB3
14 muscular disease 9.6 DTNA LDB3
15 dilated cardiomyopathy 9.5 DTNA LDB3

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

Human phenotypes related to Left Ventricular Noncompaction 1:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 patent ductus arteriosus 33 HP:0001643
3 congestive heart failure 33 HP:0001635
4 hypoplastic left heart 33 HP:0004383
5 mitral regurgitation 33 HP:0001653
6 left ventricular hypertrophy 33 HP:0001712
7 ventricular septal defect 33 HP:0001629
8 atrial fibrillation 33 HP:0005110
9 ventricular arrhythmia 33 HP:0004308
10 left ventricular noncompaction 33 HP:0030682
11 left ventricular noncompaction cardiomyopathy 33 HP:0011664

Symptoms via clinical synopsis from OMIM:

58
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

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 30 DTNA

Anatomical Context for Left Ventricular Noncompaction 1

MalaCards organs/tissues related to Left Ventricular Noncompaction 1:

42
Heart

Publications for Left Ventricular Noncompaction 1

Articles related to Left Ventricular Noncompaction 1:

# Title Authors Year
1
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. ( 29118297 )
2017
2
Successful implantation of an intracardiac defibrillator in an infant with long QT syndrome and isolated noncompaction of the ventricular myocardium. ( 22441564 )
2013
3
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
4
Transplacental digitalization for nonimmune hydrops fetalis caused by isolated noncompaction of the ventricular myocardium. ( 17384050 )
2007
5
Young male with isolated noncompaction of the ventricular myocardium presenting with atrial fibrillation and complete heart block. ( 16337519 )
2006
6
Cardioverter defibrillator implantation in a child with isolated noncompaction of the ventricular myocardium and ventricular fibrillation. ( 14720165 )
2004
7
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. ( 11238270 )
2001

Variations for Left Ventricular Noncompaction 1

ClinVar genetic disease variations for Left Ventricular Noncompaction 1:

6 (show top 50) (show all 108)
# 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_001390.4(DTNA): c.1822+8G> A single nucleotide variant Benign rs111817603 GRCh37 Chromosome 18, 32455370: 32455370
4 DTNA NM_001390.4(DTNA): c.1822+8G> A single nucleotide variant Benign rs111817603 GRCh38 Chromosome 18, 34875406: 34875406
5 DTNA NM_001390.4(DTNA): c.2081+14G> A single nucleotide variant Benign rs76713874 GRCh37 Chromosome 18, 32459697: 32459697
6 DTNA NM_001390.4(DTNA): c.2081+14G> A single nucleotide variant Benign rs76713874 GRCh38 Chromosome 18, 34879733: 34879733
7 DTNA NM_001390.4(DTNA): c.210G> A (p.Leu70=) single nucleotide variant Benign/Likely benign rs117571555 GRCh37 Chromosome 18, 32374062: 32374062
8 DTNA NM_001390.4(DTNA): c.210G> A (p.Leu70=) single nucleotide variant Benign/Likely benign rs117571555 GRCh38 Chromosome 18, 34794098: 34794098
9 DTNA NM_032978.6(DTNA): c.1000G> A (p.Val334Met) single nucleotide variant Conflicting interpretations of pathogenicity rs148123045 GRCh37 Chromosome 18, 32400878: 32400878
10 DTNA NM_032978.6(DTNA): c.1000G> A (p.Val334Met) single nucleotide variant Conflicting interpretations of pathogenicity rs148123045 GRCh38 Chromosome 18, 34820914: 34820914
11 DTNA NM_001392.4(DTNA): c.*22763C> A single nucleotide variant Benign rs77320474 GRCh37 Chromosome 18, 32431798: 32431798
12 DTNA NM_001392.4(DTNA): c.*22763C> A single nucleotide variant Benign rs77320474 GRCh38 Chromosome 18, 34851834: 34851834
13 DTNA NM_032978.6(DTNA): c.1390G> A (p.Asp464Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144880521 GRCh37 Chromosome 18, 32431840: 32431840
14 DTNA NM_032978.6(DTNA): c.1390G> A (p.Asp464Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144880521 GRCh38 Chromosome 18, 34851876: 34851876
15 DTNA NM_001390.4(DTNA): c.1404G> A (p.Ala468=) single nucleotide variant Likely benign rs397517443 GRCh37 Chromosome 18, 32431845: 32431845
16 DTNA NM_001390.4(DTNA): c.1404G> A (p.Ala468=) single nucleotide variant Likely benign rs397517443 GRCh38 Chromosome 18, 34851881: 34851881
17 DTNA NM_001390.4(DTNA): c.1663-10G> T single nucleotide variant Benign/Likely benign rs192561043 GRCh37 Chromosome 18, 32455193: 32455193
18 DTNA NM_001390.4(DTNA): c.1663-10G> T single nucleotide variant Benign/Likely benign rs192561043 GRCh38 Chromosome 18, 34875229: 34875229
19 DTNA NM_001390.4(DTNA): c.231C> T (p.Asn77=) single nucleotide variant Benign rs147759402 GRCh37 Chromosome 18, 32374083: 32374083
20 DTNA NM_001390.4(DTNA): c.231C> T (p.Asn77=) single nucleotide variant Benign rs147759402 GRCh38 Chromosome 18, 34794119: 34794119
21 DTNA NM_032978.6(DTNA): c.243A> G (p.Leu81=) single nucleotide variant Benign/Likely benign rs146923532 GRCh37 Chromosome 18, 32374095: 32374095
22 DTNA NM_032978.6(DTNA): c.243A> G (p.Leu81=) single nucleotide variant Benign/Likely benign rs146923532 GRCh38 Chromosome 18, 34794131: 34794131
23 DTNA NM_001390.4(DTNA): c.51G> A (p.Gln17=) single nucleotide variant Likely benign rs368000651 GRCh37 Chromosome 18, 32335991: 32335991
24 DTNA NM_001390.4(DTNA): c.51G> A (p.Gln17=) single nucleotide variant Likely benign rs368000651 GRCh38 Chromosome 18, 34756027: 34756027
25 DTNA NM_001390.4(DTNA): c.537G> T (p.Thr179=) single nucleotide variant Benign rs11877640 GRCh37 Chromosome 18, 32392011: 32392011
26 DTNA NM_001390.4(DTNA): c.537G> T (p.Thr179=) single nucleotide variant Benign rs11877640 GRCh38 Chromosome 18, 34812047: 34812047
27 DTNA NM_032978.6(DTNA): c.604-14G> T single nucleotide variant Benign/Likely benign rs397517447 GRCh37 Chromosome 18, 32395859: 32395859
28 DTNA NM_032978.6(DTNA): c.604-14G> T single nucleotide variant Benign/Likely benign rs397517447 GRCh38 Chromosome 18, 34815895: 34815895
29 DTNA NM_001390.4(DTNA): c.933C> T (p.Ser311=) single nucleotide variant Benign rs114170541 GRCh37 Chromosome 18, 32400811: 32400811
30 DTNA NM_001390.4(DTNA): c.933C> T (p.Ser311=) single nucleotide variant Benign rs114170541 GRCh38 Chromosome 18, 34820847: 34820847
31 DTNA NM_001390.4(DTNA): c.999C> T (p.Ile333=) single nucleotide variant Benign rs61737438 GRCh37 Chromosome 18, 32400877: 32400877
32 DTNA NM_001390.4(DTNA): c.999C> T (p.Ile333=) single nucleotide variant Benign rs61737438 GRCh38 Chromosome 18, 34820913: 34820913
33 DTNA NM_001198938.1(DTNA): c.1086-10210T> C single nucleotide variant Benign/Likely benign rs41274310 GRCh37 Chromosome 18, 32418050: 32418050
34 DTNA NM_001198938.1(DTNA): c.1086-10210T> C single nucleotide variant Benign/Likely benign rs41274310 GRCh38 Chromosome 18, 34838086: 34838086
35 DTNA NM_032978.6(DTNA): c.1207C> T (p.His403Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs139872140 GRCh37 Chromosome 18, 32418752: 32418752
36 DTNA NM_032978.6(DTNA): c.1207C> T (p.His403Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs139872140 GRCh38 Chromosome 18, 34838788: 34838788
37 DTNA NM_032978.6(DTNA): c.1256+5G> C single nucleotide variant Uncertain significance rs397517448 GRCh37 Chromosome 18, 32418806: 32418806
38 DTNA NM_032978.6(DTNA): c.1256+5G> C single nucleotide variant Uncertain significance rs397517448 GRCh38 Chromosome 18, 34838842: 34838842
39 DTNA NM_032978.6(DTNA): c.316C> G (p.Gln106Glu) single nucleotide variant Uncertain significance rs140768365 GRCh38 Chromosome 18, 34794204: 34794204
40 DTNA NM_032978.6(DTNA): c.316C> G (p.Gln106Glu) single nucleotide variant Uncertain significance rs140768365 GRCh37 Chromosome 18, 32374168: 32374168
41 DTNA NM_032978.6(DTNA): c.955A> G (p.Met319Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141981161 GRCh38 Chromosome 18, 34820869: 34820869
42 DTNA NM_032978.6(DTNA): c.955A> G (p.Met319Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141981161 GRCh37 Chromosome 18, 32400833: 32400833
43 DTNA NM_032975.3(DTNA): c.1787G> A (p.Arg596Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138143719 GRCh38 Chromosome 18, 34879596: 34879596
44 DTNA NM_032975.3(DTNA): c.1787G> A (p.Arg596Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138143719 GRCh37 Chromosome 18, 32459560: 32459560
45 DTNA NM_001390.4(DTNA): c.784C> T (p.His262Tyr) single nucleotide variant Uncertain significance rs369043538 GRCh38 Chromosome 18, 34818238: 34818238
46 DTNA NM_001390.4(DTNA): c.784C> T (p.His262Tyr) single nucleotide variant Uncertain significance rs369043538 GRCh37 Chromosome 18, 32398202: 32398202
47 DTNA NM_001390.4(DTNA): c.1373G> C (p.Ser458Thr) single nucleotide variant Benign/Likely benign rs190619495 GRCh38 Chromosome 18, 34851850: 34851850
48 DTNA NM_001390.4(DTNA): c.1373G> C (p.Ser458Thr) single nucleotide variant Benign/Likely benign rs190619495 GRCh37 Chromosome 18, 32431814: 32431814
49 DTNA NM_032978.6(DTNA): c.1002-6T> C single nucleotide variant Benign/Likely benign rs200208281 GRCh38 Chromosome 18, 34827587: 34827587
50 DTNA NM_032978.6(DTNA): c.1002-6T> C single nucleotide variant Benign/Likely benign rs200208281 GRCh37 Chromosome 18, 32407551: 32407551

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

Cellular components related to Left Ventricular Noncompaction 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 DTNA LDB3

Sources for Left Ventricular Noncompaction 1

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