Anomaly of the mitral subvalvular apparatus
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anomaly of the mitral subvalvular apparatus | |
| fr | Anomalie de l'appareil mitral subvalvulaire | |
| de | Anomalie des subvalvulären Apparates der Mitralklappe | |
| es | Anomalía del aparato subvalvular mitral | |
| it | Anomalia dell'apparato sottovalvolare mitralico | |
| nl | Anomalie van subvalvulair apparaat van mitralisklep | |
| pt | Anomalia do aparelho mitral subvalvular | |
| pl | Anomalia mitralnego aparatu podzastawkowego | |
| cs | Anomálie mitrálního subvalvulárního aparátu | |
| uk | Аномалія мітрального підклапанного апарату | |
| zh | 二尖瓣下瓣膜异常 | |
| tr | Mitral subvalvüler aparat anomalisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.8 | NTBT | attributed | validated |
| ICD-11 | LA87.13 | E | specific | validated |
| MONDO | 0015109 | E | validated | |
| UMLS | C3164517 | E | validated | |
| GARD | 19784 | 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:95464Congenital mitral valve insufficiency and/or stenosis
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101932
- This record as JSON: /data/d/101932.json