FAMILIAL SUPRAVALVULAR AORTIC-STENOSIS - OBSERVATION OF ONE FAMILY AND A REVIEW OF THE LITERATURE

Familiar supravalvular aortic stenosis is a rare autosomal dominant co ndition. It may be distinguished from the Williams-Beuren syndrome by the absence of the characteristic dysmorphic appearances and of mental retardation. The case of a 9-year-old girl with a severe surgical ste nosis led to the diagnosis of the same malformation in the mother and two brothers. This family adds to the 121 cases reported in the litera ture describing the main features of SVAS. Molecular biological advanc es have shown that familial SVAS and the Williams syndrome are due to mutation of the elastin gene located at 7q11-23. In the Williams syndr ome the allele of this gene is completely absent and there is also pro bably deletion of contiguous genes, which explains involvement of cogn itive function. In SVAS, the genetic lesion, mutation or microdeletion is more limited, explaining the usually isolated aortic malformation. Other studies are necessary to confirm these results.