Cardiomyopathy, dilated, 2A

General Information (adopted from Orphanet):

Synonyms, Signs: CMD2A
Cardiomyopathy, congestive, autosomal recessive
cardiomyopathy, dilated, autosomal recessive
Number of Symptoms 9
OrphanetNr:
OMIM Id: 611880
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
3594932 [IBIS]
Age of onset: Adolescent
3594932 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 2A is caused by mutations in TNNI3 (PMID:15070570).

Symptom Information: Sort by abundance 

1
(HPO:0001644) Dilated cardiomyopathy 3594932 IBIS 141 / 7739
2
(HPO:0006670) Impaired myocardial contractility 15070570 IBIS 9 / 7739
3
(HPO:0001711) Abnormality of the left ventricle 15070570 IBIS 22 / 7739
4
(HPO:0001635) Congestive heart failure 3594932 IBIS 232 / 7739
5
(HPO:0002094) Dyspnea 3594932 IBIS 132 / 7739
6
(OMIM) Muscle biopsy shows loss of myofibrillar organization 15070570 IBIS 2 / 7739
7
(OMIM) Left ventricular enlargement 15070570 IBIS 9 / 7739
8
(OMIM) Myocyte hypertrophy 15070570 IBIS 10 / 7739
9
(OMIM) Hyperchromatic nuclei 15070570 IBIS 2 / 7739

Associated genes:

TNNI3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Goldblatt et al. (1987) described 3 members of a Madeira Portuguese family with dilated cardiomyopathy. The first patient presented at age 11 years with dyspnea and congestive heart failure and died 10 weeks later. A cousin was discovered ...
Molecular genetics OMIM In 2 affected members of a family with dilated cardiomyopathy-2A, Murphy et al. (2004) identified homozygosity for a missense mutation (A2V; 191044.0009) in the TNNI3 gene. The unaffected parents and an unaffected sister were heterozygous for the mutation. ...