Surgical Treatment of Adult Williams-Beuren Syndrome with Pulmonary Arteriovenous Fistula

Abstract

Williams-Beuren syndrome (WBS) is a genetic disease involving the gene deletion of a chromosome. It is sporadically caused by the disruption of the elastin gene at the locus 7q11.23, and it occurs in as many as 1:7,500 individuals [Zucker 2018]. WBS includes cardiac lesions and a wide spectrum of congenital malformations with cardiovascular disorders, representing the most worrisome ones. The most typically frequent cardiovascular anomalies primarily comprise supravalvular aortic stenosis, peripheral pulmonary stenosis, mitral regurgitation, and aortic coarctation [Matisoff 2015]. Other main features include central nervous system and connective tissue involvement, mainly with a characteristic elfin face, mental and growth retardation, and hypercalcemia. We report a rare case of WBS with right pulmonary arteriovenous fistula (PAVF), associated with supravalvular aortic membrane stenosis, mitral regurgitation, and aortic coarctation. The patient underwent two-stage surgical treatment with satisfactory results at 5 years of follow-up.  This case study was approved by the local research ethics board. Written informed consent was obtained from this patient.