dilated cardiomyopathy 1AA
Findings
No curated finding names dilated cardiomyopathy 1AA yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012808), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Death in adolescence · Young adult onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cardiomyocyte hypertrophyHPOHP:0031319
- 2 of 2 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient
- Endocardial fibroelastosisHPOHP:0001706
- 1 of 1 reported patient
- Endocardial fibrosisHPOHP:0006685
- 2 of 2 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 3 reported patients
- Myofiber disarrayHPOHP:0031318
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACTN2HGNC:164
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
6 names
Resolves to: dilated cardiomyopathy 1AA
- Also called
- ACTN2 familial isolated dilated cardiomyopathycardiomyopathy, dilated, 1AA, with or without LVNCcardiomyopathy, hypertrophic, 23, with or without LVNCCMD1AAdilated cardiomyopathy type 1AAfamilial isolated dilated cardiomyopathy caused by mutation in ACTN2