endocardial fibroelastosis
Findings
No curated finding names endocardial fibroelastosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.
Definition from the Mondo Disease Ontology (MONDO:0009169), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal helix morphologyHPOHP:0011039
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
Show the remaining 4
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Endocardial fibroelastosisHPOHP:0001706
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: endocardial fibroelastosis
- Also called
- Elastomyofibrosis