Univentricular heart
Synonyms: Double inlet atrioventricular connection
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Univentricular heart | Double inlet atrioventricular connection |
| fr | Coeur univentriculaire | Connexion atrioventriculaire univentriculaire |
| de | Herz, univentrikuläres | Univentrikuläre atrioventrikuläre Verbindung |
| es | Corazón univentricular | Conexión auriculoventricular de doble entrada |
| it | Cuore univentricolare | Connessione atrio-ventricolare a doppia entrata |
| nl | Univentriculair hart | Atrioventriculaire verbinding met dubbele instroom |
| pt | Coração univentricular | Junção auriculoventricular de dupla entrada |
| pl | Serce jednokomorowe | Dwunapływowa lewa komora |
| cs | Jednokomorové srdce | Dvojvtoková levá komora |
| uk | Одношлуночкове серце | Атріовентрикулярне зєднання з подвійним входом |
| zh | 单心室心脏 | 双出口左心室 |
| tr | Univentriküler kalp | Çift girişli sol ventrikül |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q20.4 | E | specific | validated |
| ICD-11 | LA89.0 | E | specific | validated |
| MONDO | 0015451 | E | validated | |
| MeSH | D000080039 | E | validated | |
| UMLS | C0152424 | E | validated | |
| MedDRA | 10045545 | 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:95483Univentricular cardiopathy
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99069OBSOLETE: Univentricular heart with single atrio-ventricular valve referred to · inactive
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 / 100 000 | 7.5 / 100 000 | Worldwide | Value and class | Validated | 23705101[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
14 annotations · validated 2024-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030950 | Pulmonary venous hypertension | |
| HP:0034350 | Valvular pulmonary stenosis | |
| Frequent (79-30%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0001508 | Failure to thrive | |
| HP:0030148 | Heart murmur | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0002098 | Respiratory distress | |
| HP:0002789 | Tachypnea | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001640 | Cardiomegaly | |
| HP:0000961 | Cyanosis | |
| HP:0002040 | Esophageal varix | |
| HP:0002240 | Hepatomegaly | |
| HP:0012418 | Hypoxemia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32491721[PMID]_17296869[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1464
- This record as JSON: /data/d/1464.json