Left ventricular noncompaction 1

General Information (adopted from Orphanet):

Synonyms, Signs: LVNC1
Left ventricular noncompaction 1 with or without congenital heart defects
Number of Symptoms 17
OrphanetNr:
OMIM Id: 604169
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Left ventricular noncompaction
 -Rare cardiac disease
 -Rare genetic disease

Comment:

LVNC with CHD (congenital heart defects) was associated with missense mutation in the DTNA gene, Pro121Leu (rs104894654) in a Japanese family in which members of 4 generations were affected, 5 of them with LVNC associated with CHD, and 1 with isolated LVNC (PMID: 17729299).

Symptom Information: Sort by abundance 

1
(HPO:0001789) Hydrops fetalis Occasional [IBIS] 20% (n=5) 11238270 IBIS 63 / 7739
2
(HPO:0004308) Ventricular arrhythmia 11238270 IBIS 46 / 7739
3
(HPO:0001653) Mitral regurgitation Occasional [IBIS] 20% (n=5) 11238270 IBIS 64 / 7739
4
(HPO:0001712) Left ventricular hypertrophy 11238270 IBIS 76 / 7739
5
(HPO:0011664) Left ventricular noncompaction cardiomyopathy Very frequent 100% (n=5) 11238270 IBIS 10 / 7739
6
(HPO:0001637) Abnormality of the myocardium 11238270 IBIS 76 / 7739
7
(HPO:0001635) Congestive heart failure Frequent [IBIS] 40% (n=5) 11238270 IBIS 232 / 7739
8
(HPO:0005110) Atrial fibrillation Occasional [IBIS] 20% (n=5) 11238270 IBIS 71 / 7739
9
(HPO:0001645) Sudden cardiac death Occasional [IBIS] 20% (n=5) 11238270 IBIS 84 / 7739
10
(HPO:0004383) Hypoplastic left heart Occasional [IBIS] 20% (n=5) 11238270 IBIS 29 / 7739
11
(HPO:0001629) Ventricular septal defect Frequent [IBIS] 60% (n=5) 11238270 IBIS 316 / 7739
12
(HPO:0001643) Patent ductus arteriosus Occasional [IBIS] 20% (n=5) 11238270 IBIS 228 / 7739
13
(OMIM) Left ventricular noncompaction Very frequent [IBIS] 100% (n=5) 11238270 IBIS 7 / 7739
14
(MedDRA:10052337) Diastolic dysfunction Frequent [IBIS] 40% (n=5) 11238270 IBIS 14 / 7739
15
(MedDRA:10071436) Systolic dysfunction Frequent [IBIS] 40% (n=5) 11238270 IBIS 13 / 7739
16
(OMIM) Prominent endomyocardial trabeculations 11238270 IBIS 3 / 7739
17
(MedDRA:10049694) Left ventricular dysfunction 11238270 IBIS 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DTNA rs104894654 pathogenic RCV000008804.4

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Chin et al. (1990) described the echocardiographic characteristics of left ventricular noncompaction in 8 patients, 5 males and 3 females. Clinical manifestations of the disorder included depressed left ventricular systolic function in 5 patients, ventricular arrhythmias in 5, ...
Genotype-Phenotype Correlations OMIM Probst et al. (2011) reported a cohort of 63 LVNC probands, previously studied by Klaassen et al. (2008), in which 8 sarcomere genes were analyzed and heterozygous mutations found in 18 (29%) of the probands: 8 mutations were ...
Molecular genetics OMIM In affected members of a 4-generation Japanese family with left ventricular noncompaction, Ichida et al. (2001) identified a missense mutation in the DTNA gene (P121L; 601239.0001). Of the 6 individuals with LVNC, only 1 had no other congenital ...