[The Williams-Beuren syndrome: reconstruction of the thoracic aorta combining surgery and endovascular treatment]. / Syndrome de Williams-Beuren: reconstruction étendue de l'aorte thoracique combinant chirurgie et traitement percutané

ABSTRACT

The Williams-Beuren syndrome is the association of elf-like facies, mental retardation with cardiovascular anomalies, the most common of which is supravalvular aortic stenosis. This lesion may be focal or associated with hypoplasia of the distal aorta. The treatment is surgical and the role of interventional cardiological treatment is poorly defined. The authors report the case of a child with typical Williams-Beuren syndrome. An initial, very localised surgical aortic repair was performed at 3 months of age for a discrete supravalvular aortic stenosis. Two months later, a second operation was required for a new stenosis of the distal anastomosis associated with marked hypoplasia of the aortic arch. The progressive constitution of an isthmic coarctation led to the percutaneous implantation of a stent followed by two balloon dilatations. Only the first two endoluminal procedures successfully reduced the transisthmic pressure gradient. An antihypertensive treatment was given and regular echocardiography allows monitoring of the adaptation of the left ventricle.