Aneurysm of sinus of Valsalva
Synonyms: SOVA · SVA · Sinus of Valsalva aneurysm
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aneurysm of sinus of Valsalva | SOVA · SVA · Sinus of Valsalva aneurysm |
| fr | Anévrisme du sinus de Valsalva | SOVA |
| de | Sinus-Valsalva-Aneurysma | SOVA · SVA |
| es | Aneurisma de senos de Valsalva | |
| it | Aneurisma del seno di Valsalva | |
| nl | Aneurysma van sinus van Valsalva | SOVA · SVA |
| pt | Aneurisma dos seios de Valsalva | SOVA · SVA |
| pl | Tętniak zatoki Valsalvy | = en |
| cs | Aneuryzma Valsalvova sinu | = en |
| uk | Аневризма синуса Вальсальви | |
| zh | 主动脉窦瘤 | |
| tr | Valsalva sinüs anevrizması |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q25.4 | NTBT | inclusion | validated |
| ICD-11 | LA8A.4 | E | specific | validated |
| MONDO | 0015197 | E | validated | |
| UMLS | C2239253 | E | validated | |
| GARD | 670 | 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:98725Ascending aorta anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
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
11 annotations · validated 2016-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011645 | Dilatation of the sinus of Valsalva | |
| Frequent (79-30%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0002094 | Dyspnea | |
| HP:0030148 | Heart murmur | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0012735 | Cough | |
| HP:0000969 | Edema | |
| Very rare (<4-1%) | ||
| HP:0006689 | Bacterial endocarditis | |
| HP:0100749 | Chest pain | |
| HP:0100520 | Oliguria | |
| HP:0001297 | Stroke | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 17437748[PMID]_10798425[PMID]_8461229[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1054
- This record as JSON: /data/d/1054.json