Laubry-Pezzi syndrome
Findings
No curated finding names Laubry-Pezzi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0020427), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic regurgitationHPOHP:0001659
- Obligate (100% of cases)
- Ventricular septal defectHPOHP:0001629
- Obligate (100% of cases)
- Abnormal aortic valve cusp morphologyHPOHP:0031567
- Very frequent (80% to 99% of cases)
- Aortic valve prolapseHPOHP:0025578
- Very frequent (80% to 99% of cases)
- Abnormal coronary artery morphologyHPOHP:0006704
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- Diastolic heart murmur
Show the remaining 10
- Subarterial ventricular septal defectHPOHP:0011681
- Frequent (30% to 79% of cases)
- Ascending tubular aorta aneurysmHPOHP:0004970
- Occasional (5% to 29% of cases)
- Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Occasional (5% to 29% of cases)
- Perimembranous ventricular septal defectHPOHP:0011682
- Occasional (5% to 29% of cases)
- Bicuspid aortic valveHPOHP:0001647
- Very rare (1% to 4% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Laubry-Pezzi syndrome
- Also called
- ventricular septal defect with aortic insufficiencyVSD with aortic insufficiency