familial dilated cardiomyopathy
Findings
No curated finding names familial dilated cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.
Definition from the Mondo Disease Ontology (MONDO:0016333), read 2026-09-29. CC BY 4.0.
Genes
30 genes
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.
- ABCC9HGNC:60
- Limited · G2P · Autosomal dominant · 2025
- ANKRD1HGNC:15819
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
- CSRP3HGNC:2472
- Limited · G2P · Autosomal dominant · 2025
- CTF1HGNC:2499
- Limited · G2P · Autosomal dominant · 2025
- DSG2HGNC:3049
- Limited · G2P · Autosomal dominant · 2025
- DTNAHGNC:3057
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- Narrower terms (29)
- autosomal recessive limb-girdle muscular dystrophy type 2C
- autosomal recessive limb-girdle muscular dystrophy type 2D
- autosomal recessive limb-girdle muscular dystrophy type 2E
- autosomal recessive limb-girdle muscular dystrophy type 2F
- autosomal recessive limb-girdle muscular dystrophy type 2M
- autosomal recessive limb-girdle muscular dystrophy type 2W
- Barth syndrome
- cardiomyopathy, dilated, 100
- cardiomyopathy, dilated, 1LL
- cardiomyopathy, dilated, 1MM
- cardiomyopathy, dilated, 1QQ
- cardiomyopathy, dilated, 2I
- cardiomyopathy, dilated, 2j
- cardiomyopathy, dilated, 2K
- cardiomyopathy, dilated, 2l
- cardiomyopathy, dilated, 2M
- cardiomyopathy, dilated, 3C
- dilated cardiomyopathy 1J
Other names
1 name
Resolves to: familial dilated cardiomyopathy
- Also called
- hereditary dilated cardiomyopathy