Cardiomyopathy, dilated, 1AA with or without left ventricular noncompaction

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1AA
Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction, included
Number of Symptoms 20
OrphanetNr:
OMIM Id: 612158
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
25224718 [IBIS]
Age of onset: All ages
25173926, 25173926 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1AA with or without left ventricular noncompaction (Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction, included) is caused mutations in ACTN2 (PMID:25173926, PMID:14567970, PMID:17097056, PMID:25224718, PMID:20022194).

Symptom Information: Sort by abundance 

1
 (HPO:0001684) Secundum atrial septal defect 25173926 IBIS 14 / 7739
2
 (HPO:0001706) Endocardial fibroelastosis 14567970 IBIS 20 / 7739
3
 (HPO:0001644) Dilated cardiomyopathy 14567970 IBIS 141 / 7739
4
 (HPO:0004755) Supraventricular tachycardia 25173926 IBIS 20 / 7739
5
 (HPO:0011664) Left ventricular noncompaction cardiomyopathy 25224718 IBIS 10 / 7739
6
 (HPO:0200128) Biventricular hypertrophy 20022194 IBIS 11 / 7739
7
 (HPO:0001712) Left ventricular hypertrophy 20022194 IBIS 76 / 7739
8
 (HPO:0006685) Endocardial fibrosis 17097056 IBIS 9 / 7739
9
 (HPO:0001685) Myocardial fibrosis 25224718 IBIS 30 / 7739
10
 (HPO:0001695) Cardiac arrest 20022194, 25224718 IBIS 87 / 7739
11
 (HPO:0001678) Atrioventricular block 25173926 IBIS 59 / 7739
12
 (HPO:0005110) Atrial fibrillation 25173926 IBIS 71 / 7739
13
 (HPO:0005162) Left ventricular failure 20022194 IBIS 18 / 7739
14
 (HPO:0001639) Hypertrophic cardiomyopathy 25173926 IBIS 137 / 7739
15
 (HPO:0005115) Supraventricular arrhythmia 25173926 IBIS 13 / 7739
16
 (OMIM) Myocyte disarray on cardiac biopsy 17097056 IBIS 6 / 7739
17
 (OMIM) Interstitial fibrosis 14567970 IBIS 24 / 7739
18
 (OMIM) Myocyte hypertrophy 14567970 IBIS 10 / 7739
19
 (HPO:0001699) Sudden death 25224718, 25173926 IBIS 34 / 7739
20
 (OMIM) Biventricular dilation (in some patients) 25173926 IBIS 3 / 7739

Associated genes:

ACTN2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ACTN2 rs121434525 pathogenic RCV000019977.29
ACTN2 rs727502886 pathogenic RCV000169904.6
ACTN2 rs786205144 pathogenic RCV000169907.5

Additional Information:

Clinical Description OMIM Mohapatra et al. (2003) reported a 7-year-old girl who died of dilated cardiomyopathy (CMD) only a few weeks after the onset of symptoms. At autopsy, marked dilation of both ventricles, myocyte hypertrophy, and interstitial fibrosis were noted; there ...
Molecular genetics OMIM In a 7-year-old girl who died of dilated cardiomyopathy and was negative for mutation in 8 known cardiomyopathy genes, Mohapatra et al. (2003) identified heterozygosity for a missense mutation at a conserved residue in the ACTN2 gene (102573.0001). ...