Laubry-Pezzi syndrome
http://purl.obolibrary.org/obo/MONDO_0020427
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. [ Orphanet:99094 ]
Term info
- UMLS:CN207292 (MONDO:equivalentTo)
- Orphanet:99094 (MONDO:equivalentTo)
- SCTID:764955006 (MONDO:equivalentTo)
ordo_morphological_anomaly
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.
http://linkedlifedata.com/resource/umls/id/CN207292, http://identifiers.org/snomedct/764955006, http://purl.obolibrary.org/obo/Orphanet_99094
ventricular septal defect with aortic insufficiency, VSD with aortic insufficiency
MONDO:0020427