Ectopia cordis
Synonyms: Extrathoracic heart
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare congenital non-syndromic heart malformation characterized by life-threatening complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectopia cordis | Extrathoracic heart |
| fr | Ectopie cardiaque | Ectocardia · Ectopia cordis |
| de | Ectopia cordis | Extrathorakales Herz |
| es | Ectopia cordis | Corazón extratorácico |
| it | Ectopia del cuore | Cuore extratoracico |
| nl | Ectopia cordis | Extrathoracaal hart · Ectopisch hart |
| pt | Ectopia cordis | |
| pl | Ektopia serca | = en |
| cs | Ectopia cordis | = en |
| uk | Ектопія пуповини | |
| zh | 异位心 | |
| tr | Ektopia kordis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q24.8 | NTBT | index | validated |
| ICD-11 | LA80.3 | E | specific | validated |
| MONDO | 0018664 | E | validated | |
| MeSH | D054083 | E | validated | |
| UMLS | C0013580 | E | validated | |
| MedDRA | 10014144 | 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 (1):
- ORPHA:98716Heart position anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Worldwide | Value and class | Validated | 20965559[PMID] |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/448270
- This record as JSON: /data/d/448270.json