familial isolated dilated cardiomyopathy
Findings
No curated finding names familial isolated dilated cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.
Definition from the Mondo Disease Ontology (MONDO:0700335), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Dilated cardiomyopathyHPOHP:0001644
- Very frequent (80% to 99% of cases)
- Left ventricular systolic dysfunctionHPOHP:0025169
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- EdemaHPOHP:0000969
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- Fatigue
Show the remaining 1
- Thromboembolic strokeHPOHP:0001727
- Occasional (5% to 29% of cases)
Genes
45 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
- Supportive · Orphanet · Autosomal dominant · 2021
- ACTC1HGNC:143
- Supportive · Orphanet · Autosomal dominant · 2021
- ACTN2HGNC:164
- Supportive · Orphanet · Autosomal dominant · 2021
- ANKRD1HGNC:15819
- Supportive · Orphanet · Autosomal dominant · 2021
- BAG3HGNC:939
- Supportive · Orphanet · Autosomal dominant · 2021
- CAP2HGNC:20039
Where it sits
- A kind of
- Narrower terms (45)
- cardiomyopathy, dilated, 2c
- cardiomyopathy, dilated, 2D
- cardiomyopathy, dilated, 2E
- cardiomyopathy, dilated, 2F
- cardiomyopathy, dilated, 2G
- cardiomyopathy, dilated, 2H
- dilated cardiomyopathy 1A
- dilated cardiomyopathy 1AA
- dilated cardiomyopathy 1B
- dilated cardiomyopathy 1BB
- dilated cardiomyopathy 1C
- dilated cardiomyopathy 1CC
- dilated cardiomyopathy 1D
- dilated cardiomyopathy 1DD
- dilated cardiomyopathy 1E
- dilated cardiomyopathy 1EE
- dilated cardiomyopathy 1FF
- dilated cardiomyopathy 1G
- dilated cardiomyopathy 1GG
- dilated cardiomyopathy 1H
- dilated cardiomyopathy 1HH
- dilated cardiomyopathy 1I
Other names
1 name
Resolves to: familial isolated dilated cardiomyopathy
- Also called
- familial or idiopathic dilated cardiomyopathy