Isolated right ventricular hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated right ventricular hypoplasia | |
| fr | Hypoplasie ventriculaire droite isolée | |
| de | Rechtsventrikuläre Hypoplasie, isolierte Form | |
| es | Hipoplasia ventricular derecha aislada | |
| it | Ipoplasia isolata del ventricolo destro | |
| nl | Geïsoleerde rechterventrikelhypoplasie | |
| pt | Hipoplasia do ventrículo direito isolada | |
| pl | Hipoplazja prawej komory | |
| cs | Izolovaná hypoplázie pravé komory | |
| uk | Ізольована гіпоплазія правого шлуночка | |
| zh | 孤立性右心室发育不全 | |
| tr | İzole sağ ventriküler hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277200 | E | validated | |
| ICD-10 | Q22.6 | NTBT | attributed | validated |
| ICD-11 | LA88.Y | NTBT | index | validated |
| MONDO | 0010179 | E | validated | |
| MeSH | C535682 | E | validated | |
| UMLS | C1848587 | E | validated | |
| GARD | 4721 | 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:98723Hypoplastic right heart syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations
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
19 annotations · validated 2021-08-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000961 | Cyanosis | |
| HP:0002094 | Dyspnea | |
| HP:0012418 | Hypoxemia | |
| HP:0001694 | Right-to-left shunt | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001217 | Clubbing | |
| HP:0012378 | Fatigue | |
| HP:0001655 | Patent foramen ovale | |
| HP:0030718 | Right atrial enlargement | |
| HP:0001708 | Right ventricular failure | |
| HP:0031664 | Systolic heart murmur | |
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0012383 | Bidirectional shunt | |
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0011623 | Muscular ventricular septal defect | |
| HP:0010741 | Pedal edema | |
| HP:0011712 | Right bundle branch block | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30805240[PMID]_33123333[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439
- This record as JSON: /data/d/439.json