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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.
Features include always present findings: Ventricular septal defect and Aortic regurgitation; and very common findings: Aortic valve prolapse and Abnormal aortic valve cusp morphology. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 14 | Ventricular septal defect, Aortic regurgitation, Aortic valve prolapse |
Phenotype severity distribution: 2 always present features, 2 very common features, 9 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Laubry-Pezzi syndrome.
39 publications have been identified in PubMed for Laubry-Pezzi syndrome. Research spans Case Report / Case Series (41%), Clinical Trial Publication (33%), and Review / Meta-Analysis (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 16 | 41% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:46 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Laubry-Pezzi syndrome
Lungs and breathing |
2 |
Exertional dyspnea, Elevated pulmonary artery pressure |
Brain and nerves | 1 | Fatigue |
Kidneys and urinary system | 1 | Ascending tubular aorta aneurysm |
13 |
33% |
Research summaries | 5 | 13% |
Disease patterns and progression | 3 | 8% |
Other research | 1 | 3% |
Laboratory research | 1 | 3% |
Negm S (2026). [PMID: 41193284](https://pubmed.ncbi.nlm.nih.gov/41193284/). *Arch Cardiovasc Dis*. [Review / Meta-Analysis]
Pawlak S (2026). [PMID: 41827132](https://pubmed.ncbi.nlm.nih.gov/41827132/). *J Clin Med*. [Clinical Trial Publication]
Sivaprakasam MC (2026). [PMID: 40295344](https://pubmed.ncbi.nlm.nih.gov/40295344/). *Pediatr Cardiol*. [Clinical Trial Publication]
Liu J (2026). [PMID: 41299148](https://pubmed.ncbi.nlm.nih.gov/41299148/). *Cardiovasc Interv Ther*. [Epidemiology / Natural History]
Ari H (2026). [PMID: 41709488](https://pubmed.ncbi.nlm.nih.gov/41709488/). *Catheter Cardiovasc Interv*. [Case Report / Case Series]
Biçer BB (2026). [PMID: 40900192](https://pubmed.ncbi.nlm.nih.gov/40900192/). *Pediatr Cardiol*. [Review / Meta-Analysis]
Bass D (2026). [PMID: 28846266](https://pubmed.ncbi.nlm.nih.gov/28846266/). *Unknown Journal*. [Clinical Trial Publication]
Avşar MK (2026). [PMID: 41577319](https://pubmed.ncbi.nlm.nih.gov/41577319/). *Ann Thorac Surg*. [Clinical Trial Publication]
Aichi C (2025). [PMID: 40319622](https://pubmed.ncbi.nlm.nih.gov/40319622/). *Int J Surg Case Rep*. [Clinical Trial Publication]
Parkash J (2025). [PMID: 41099802](https://pubmed.ncbi.nlm.nih.gov/41099802/). *Multimed Man Cardiothorac Surg*. [Case Report / Case Series]