Sudden death of a 17-year-old boy due to suspected Williams syndrome

In this article, we present a case of sudden death of a 17-year-old boy, in which diagnosis of Williams syndrome was firstly suspected after medicolegal autopsy, on the basis of typical macroscopical changes (facial appearance, dental status, supravalvular aortic stenosis with mild enlargement of the heart and significant thickening of the left ventricular myocardium) as well as heteroanamnestic data (slight mental retardation and nervousness). All other causes of sudden death were excluded. The definite diagnosis of this syndrome could not be corroborated as specific genetic analysis (fluorescent in situ hybridization test) could not be performed because of the lack of appropriate technical facilities.