Imaging of cardiovascular malformations in Williams syndrome

Objective To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS).Methods Thirteen cases of WS(7 males and 6 females)aged 10 months to 13 years were involved in this study.All patients underwent chest X-ray radiography,electrocardiography.echocardiography and physical examination.3 cases underwent electronic beam computed tomography (EBCT),cardiac catheterization and angiography were performed in 8 cases.Results Twelve patients were referred to our hespital for cardiac murmur and 1 cnse for cyanosis after birth.7 patients were found with "elfin-like"facial features.6 patients with pulmonary arterial stenosis.2 Cases with patent ductus arteriosus.2 case8 with 8evere pulmonary hypertension and 1 case with total endocardial cushion defect.Sudden death occurred in 2 patients during and after catlleterization.respectively. Conclusions Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS.Noninvnsive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. Key words: Williams syndrome; Cardiovascular abnormalities; Diagnostic imaging;  Death,sudden