Laubry-Pezzi syndrome

Orpha code: 99094OMIM code:

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.

Disease data
Classification

Morphological anomaly

Synonyms
VSD with aortic insufficiency
Ubytek przegrody międzykomorowej z niewydolnością aorty
VSD z niewydolnością aorty
Ventricular septal defect with aortic insufficiency
ORPHA code
99094
OMIM code
-
ICD10 code
Q21.0
ICD11 code
-

No additional description.

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