Endocardial fibroelastosis
Synonyms: Endomyocardial fibroelastosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Endocardial fibroelastosis | Endomyocardial fibroelastosis |
| fr | Fibroélastose endocardique | Fibroélastose endomyocardique |
| de | Fibroelastose, endokardiale | Fibroelastose, endomyokardiale |
| es | Fibroelastosis endocárdica | Fibroelastosis endomiocárdica |
| it | Fibroelastosi endomiocardica | |
| nl | Endocardiale fibro-elastose | Endomyocardiale fibro-elastose |
| pt | Fibroelastose endocárdica | Fibroelastose endomiocárdica |
| pl | Zwłóknienie sprężyste wsierdzia | = en |
| cs | Endomyokardiální fibroelastóza | = en |
| uk | Фіброеластоз ендокарда | Фіброеластоз ендоміокарда |
| zh | 心内膜弹力纤维增生症 | 心内膜心肌弹力纤维增生症 |
| tr | Endokardiyal fibroelastoz | Endomiyokardiyal fibroelastoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226000 | E | validated | |
| ICD-10 | I42.4 | E | specific | validated |
| ICD-11 | BC43.3 | E | specific | validated |
| MONDO | 0009169 | E | validated | |
| MeSH | D004695 | E | validated | |
| UMLS | C0014117 | E | validated | |
| GARD | 6336 | E | validated | |
| MedDRA | 10014663 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:217629Non-familial dilated cardiomyopathy
rare cardiac diseases - ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0001943 | Hypoglycemia | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001723 | Restrictive cardiomyopathy | |
| HP:0001852 | Sandal gap | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0000830 | Anterior hypopituitarism | |
| HP:0000028 | Cryptorchidism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001706 | Endocardial fibroelastosis | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2022
- This record as JSON: /data/d/2022.json