Laubry-Pezzi syndrome: three case reports and review of the literature

Laubry-Pezzi syndrome is a rare congenital heart disease characterized by the association of ventricular defect septal to aortic cusp prolapse responsible for aortic regurgitation (AR).

We reported three cases of Laubry-Pezzi syndrome diagnosed in our department of cardiology on a cohort of more than 3000 cases of congenital heart disease. A 13-year-old patient presented a Laubry-Pezzi syndrome with severe AR and significant volumetric left ventricle overload and was operated on in time to allow a good evolution of his condition. A 43-year-old patient, followed for congenital cardiac pathology, presented with severe dyspnea. The echocardiogram found global dysfunction of the left ventricle with an ejection fraction of 35%, a perimembranous ventricular septal defect (VSD) almost completely closed by the prolapse of the noncoronary cusp, and severe eccentric aortic insufficiency due to the prolapse of the noncoronary cusp. Aortic valve replacement and VSD closure were indicated. The third patient is a 21-year-old patient with Down syndrome, in whom a grade 2/6 systolic murmur was detected. Transthoracic echocardiography revealed a perimembranous VSD measuring 4 mm without any hemodynamic repercussions and a moderate aortic insufficiency due to the prolapse of the noncoronary cusp. Clinical and echocardiographic monitoring with Osler prevention was indicated as a modality of management.

The pathophysiology is explained by the Venturi effect, the restrictive shunt of the VSD creates an area of low pressure that sucks the adjacent cusp resulting in aortic prolapse and regurgitation. The diagnosis is essentially based on transthoracic echocardiography; it must be conducted before the emergence of AR. The management of this rare syndrome still remains nonconsensual, whether it is through timing or operative techniques.

Management must be early by closing the VSD with or without aortic valve intervention to prevent the onset or worsening of AR.