Cardiovascular Disease in Williams Syndrome

W illiams syndrome (WS), also referred to as Williams- Beuren syndrome (Online Mendelian Inheritance in Man 194050), is a congenital, multisystem disorder involving the cardiovascular, connective tissue, and central nervous systems. 1 WS occurs in ≈1 in 10 000 live births 2 as a result of the de novo deletion of ≈1.55 to 1.83 Mb on chromosome 7q11.23. 3 Familial cases can occur but are far less common than de novo cases. 4The deletion involves 26 to 28 genes, including the ELN gene, which codes for the protein elastin. 5emizygosity of the ELN gene coding for elastin has been demonstrated to be responsible for the vascular pathology in WS. 6 The remaining 25 to 27 deleted genes contribute to the phenotypic findings in patients with WS and have recently been reviewed in detail elsewhere. 5n 1961, Williams et al 7 reported their experience with 4 patients with supravalvar aortic stenosis (SVAS), mental retardation, and abnormal facial features.The following year, Beuren and colleagues 8 reported similar findings in 5 patients, and they subsequently reported detailed cardiac and angiographic data from 10 such patients. 9Their findings, combined with other characteristic features, led both groups to theorize that a previously unrecognized syndrome was the likely origin, a theory that led to the eponym Williams-Beuren syndrome.