Cardiac anomalies-heterotaxy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiac anomalies-heterotaxy syndrome | |
| fr | Syndrome d'anomalies cardiaques-hétérotaxie | |
| de | Herzanomalien-Heterotaxie-Syndrom | |
| es | Síndrome de anomalías cardíacas-heterotaxia | |
| it | Anomalie cardiache - eterotassia | |
| nl | Hartanomalieën - heterotaxie-syndroom | |
| pt | Síndrome de anomalias cardíacas-heterotaxia | |
| pl | Wady serca - heterotaksja | |
| cs | Syndrom zahrnující srdeční anomálie a heterotaxii | |
| uk | Синдром серцевих аномалій-гетеротаксису | |
| zh | 心脏异常-异构综合征 | |
| tr | Kardiyak anomalileri-heterotaksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q28.8 | NTBT | attributed | validated |
| ICD-11 | LA8Y | NTBT | attributed | validated |
| MONDO | 0015296 | E | validated | |
| UMLS | C4303970 | 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 17938964[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17938964[PMID] |
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/137628
- This record as JSON: /data/d/137628.json