Laubry-Pezzi syndrome
Synonyms: VSD with aortic insufficiency · Ventricular septal defect with aortic insufficiency
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laubry-Pezzi syndrome | VSD with aortic insufficiency · Ventricular septal defect with aortic insufficiency |
| fr | Syndrome de Laubry-Pezzi | CIV avec insuffisance aortique · Communication interventriculaire avec insuffisance aortique |
| de | Laubry-Pezzi-Syndrom | VSD mit Aorteninsuffizienz · Ventrikelseptumdefekt und Aorteninsuffizienz |
| es | Síndrome de Laubry-Pezzi | |
| it | Sindrome di Laubry-Pezzi | |
| nl | Syndroom van Laubry-Pezzi | VSD met aorta-insufficiëntie · Ventrikelseptumdefect met aorta-insufficiëntie |
| pt | Síndrome de Laubry-Pezzi | |
| pl | Zespół Laubry'ego i Pezziego | Ubytek przegrody międzykomorowej z niewydolnością aorty · VSD z niewydolnością aorty |
| cs | Laubryův-Pezziho syndrom | VSD s aortální insuficiencí · Defekt komorového septa s aortální insuficiencí · Laubry-Pezziho syndrom |
| uk | Синдром Лаубрі-Пецці | Дефект міжшлуночкової перегородки з аортальною недостатністю · VSD з аортальною недостатністю |
| zh | Laubry-Pezzi综合征 | VSD合并主动脉瓣关闭不全 |
| tr | Laubry-Pezzi sendromu | Aort yetmezliği ile seyreden VSD · Aort yetmezliği ile seyreden ventriküler septal defekt |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.0 | NTBT | attributed | validated |
| ICD-11 | LA88.4Y | NTBT | attributed | validated |
| MONDO | 0020427 | E | validated | |
| UMLS | C4707235 | 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:474347Rare congenital anomaly of ventricular septum
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 | — | Europe | 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
22 annotations · validated 2021-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001659 | Aortic regurgitation | Diagnostic criterion |
| HP:0001629 | Ventricular septal defect | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0031567 | Abnormal aortic valve cusp morphology | |
| HP:0025578 | Aortic valve prolapse | |
| Frequent (79-30%) | ||
| HP:0006704 | Abnormal coronary artery morphology | |
| HP:0001635 | Congestive heart failure | |
| HP:0031668 | Diastolic heart murmur | |
| HP:0011645 | Dilatation of the sinus of Valsalva | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0012663 | Mildly reduced ejection fraction | |
| HP:0001962 | Palpitations | |
| HP:0011681 | Subarterial ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0100749 | Chest pain | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0001647 | Bicuspid aortic valve | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001705 | Right ventricular outlet tract obstruction | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27076977[PMID]_31240196[PMID]_16638560[PMID]_25872409[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99094
- This record as JSON: /data/d/99094.json