Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul

Abstract

Aims Williams syndrome (WS) is a microdeletion syndrome aff ecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients. Patients and methods We retrospectively reviewed a cohort of WS patients who were followed at our institution from January 1, 1990 through December 31, 2010. WS was clinically diagnosed by an experienced medical geneticist and confi rmed by fl uorescence in situ hybridization. CVAs were assessed using electrocardiography, echocardiography or cardiac catheterization.Results Twenty-seven patients (60%) were male; 18 were female (40%). The mean age at presentation was 4.6 ± 3.1 years (3 months-13 years); the follow-up period was 6.9 ± 4.4 years (6 months-18 years). CVAs were found in 86% of patients, the most common one being supravalvar aortic stenosis (SVAS) in 73% (isolated in 48%), peripheral pulmonary artery stenosis (PAS) in 42%, and mitral valve prolapse (MVP) in 22%. Less common were aortic insuffi ciency (15%), ventricular septal defect (11%), valvular pulmonary stenosis (11%), and aortic arch hypoplasia (8%) and coarctation (2%). Hypertension was present in 22% of patients. Surgical or catheter-based interventions were performed in 22% of cases. Two patients were lost in the postoperative period.Conclusion CVAs were found in more than four out of fi ve patients, the most common ones being SVAS and PAS. Although surgery was performed in more patients with SVAS than with PAS, SVAS was minimal or mild in most patients and improved in few cases.