Cardiomyopathy, dilated, 1EE

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1EE
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613252
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases - PMID: 15998695 [IBIS]
Inheritance: Sporadic
Monogenic
- PMID: 15998695 [IBIS]
Age of onset: Adult
- PMID: 15998695 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1EE is caused by mutations in MYH6 (PMID:15998695).

Symptom Information: Sort by abundance 

1
 (HPO:0012664) Reduced ejection fraction 15998695 IBIS 32 / 7739
2
 (HPO:0011705) First degree atrioventricular block 15998695 IBIS 13 / 7739
3
 (HPO:0001635) Congestive heart failure 15998695 IBIS 232 / 7739
4
 (HPO:0001663) Ventricular fibrillation 15998695 IBIS 35 / 7739
5
 (HPO:0005162) Left ventricular failure 15998695 IBIS 18 / 7739
6
 (HPO:0011712) Right bundle branch block 15998695 IBIS 34 / 7739
7
 (HPO:0011713) Left bundle branch block 15998695 IBIS 30 / 7739
8
 (HPO:0004755) Supraventricular tachycardia 15998695 IBIS 20 / 7739
9
 (HPO:0001644) Dilated cardiomyopathy 15998695 IBIS 141 / 7739
10
 (HPO:0001699) Sudden death 15998695 IBIS 34 / 7739
11
 (OMIM) Ventricular tachycardia, nonsustained 15998695 IBIS 4 / 7739
12
 (OMIM) Left ventricular dilation 15998695 IBIS 13 / 7739

Associated genes:

MYH6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
MYH6 rs143978652 pathogenic RCV000015214.25
MYH6 rs267606905 pathogenic RCV000015215.25
MYH6 rs267606906 pathogenic RCV000015213.25

Additional Information:

Molecular genetics OMIM Carniel et al. (2005) analyzed the MYH6 gene in 69 families with dilated cardiomyopathy (CMD), including 134 affected and 214 unaffected individuals, and identified 3 heterozygous missense mutations in 3 sporadic Caucasian patients (160710.0005-160710.0007, respectively). None of the ...