Left ventricular noncompaction 8

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1LL, included
LVNC8 cardiomyopathy, dilated, 1LL, included
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615373
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
23768516 [IBIS]
Age of onset: Childhood
Adolescent
Adult
23768516 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Left ventricular noncompaction 8 (LVNC8) is associated with one of the following mutations in PRDM16 gene: Lys702X (rs397514742), 1-BP DUP, 1573C, Asn816Ser (rs397514743), Val1101Met (rs201654872), Pro291Leu (rs397514744), Leu887Pro (rs202115331) (PMID:23768516).

Symptom Information: Sort by abundance 

1
 (HPO:0002092) Pulmonary hypertension 23768516 IBIS 109 / 7739
2
 (HPO:0005162) Left ventricular failure 23768516 IBIS 18 / 7739
3
 (HPO:0001653) Mitral regurgitation 23768516 IBIS 64 / 7739
4
 (HPO:0011664) Left ventricular noncompaction cardiomyopathy 23768516 IBIS 10 / 7739
5
 (MedDRA:10052337) Diastolic dysfunction 23768516 IBIS 14 / 7739
6
 (MedDRA:10067286) Left atrial dilatation 23768516 IBIS 10 / 7739
7
 (MedDRA:10049694) Left ventricular dysfunction 23768516 IBIS 10 / 7739
8
 (MedDRA:10067282) Right atrial dilatation 23768516 IBIS 8 / 7739
9
 (MedDRA:10071436) Systolic dysfunction 23768516 IBIS 13 / 7739
10
 (HPO:0002119) Ventriculomegaly 23768516 IBIS 253 / 7739
11
 (HPO:0001685) Myocardial fibrosis 23768516 IBIS 30 / 7739
12
 (HPO:0011675) Arrhythmia 23768516 IBIS 226 / 7739
13
 (HPO:0001678) Atrioventricular block 23768516 IBIS 59 / 7739
14
 (HPO:0001635) Congestive heart failure 23768516 IBIS 232 / 7739
15
 (OMIM) Atrial dilation (bilateral in some patients 23768516 IBIS 3 / 7739
16
 (OMIM) Left ventricular dilation 23768516 IBIS 13 / 7739
17
 (OMIM) Thickening of ventricular noncompacted layer (in some patients) 23768516 IBIS 1 / 7739
18
 (OMIM) Ventricular dilation (bilateral in some patients 23768516 IBIS 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PRDM16 rs397514742 pathogenic RCV000054518.2
PRDM16 rs397514743 pathogenic RCV000054520.2

Additional Information:

Clinical Description OMIM Arndt et al. (2013) described 3 patients with left ventricular noncompaction who were found to have mutations in the PRDM16 gene (see MOLECULAR GENETICS). The first patient was a man who presented at 33 years of age with ...
Molecular genetics OMIM In 17 of 18 patients with a deletion in chromosome 1p36 (see 607872) who showed evidence of heart muscle disease (left ventricular noncompaction or cardiomyopathy), Arndt et al. (2013) aligned the regions of chromosomal loss and identified a ...