TÜRK KARDİYOLOJİ DERNEĞİ ARŞİVİ, cilt.25, sa.6, ss.375-381, 1997 (Diğer Kurumların Hakemli Dergileri)
Williams syndrome is a hereditary, progressive multi-system disorder characterized by "elfin facies", outgoing and talkative behaviour and frequent cardiovascular disorders especially in the form of supravalvular aortic stenosis (SVAS) and peripheral pulmonary stenosis (PPS). Genetic studies have demonstrated that deletion of the elastin gene localized at 7q11.23 plays a very important pathogenetic role in this syndrome. Literature knowledge points to the fact that SVAS may be progressive over the years whereas PPS generally has a better prognosis. In this investigation, 14 children with Williams syndrome have been studied with special attention to the cardiovascular anomalies and some clinical features (age at diagnosis ranging between 1.5 months to 12 years) and followed up for an average duration of 3.7±2.40 years. Two children had isolated SVAS, five had isolated PPS, another five had combined SVAS + PPS, one child had tetralogy of Fallot (associated with PPS and single coronary ostium) and a last child had severe aortic coarctation (associated with non-stenosing parachute mitral valve, mild SVAS and dilatation of the left coronary artery). One child with pulmonary valvular stenosis was lost to follow-up, one child with SVAS+aortic hypoplasia + PPS died during catheterization, and three children were operated (Fallot, coarctation and PPS+valvular PS) with good results. In the remaining cases, SVAS showed a moderate increase in two, a mild decrease in three, remained stable in two patients whereas PPS decreased in two, mildly inercased in two and remained stable in another two. The observation that PPS increased in two and SVAS decreased in three cases was worthy of attention since it is contrary to what is generally expected during the natural course of these lesions. We believe longer follow-up periods encompassing greater numbers of children afflicted with this interesting syndrome will be of benefit in assessing its natural course.