Stenosis of the thoracic aorta in Williams syndrome

Williams syndrome (WS) is a multisystem congenital disorder affecting 1/8000 live births. Our objective was to review our experience with stenosis of the thoracic aorta (STA) in these patients. A retrospective review was undertaken of consecutive WS patients at The Children's Hospital of Philadelphia from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. Stenosis was diagnosed with either echocardiography or cardiac catheterization. Freedom from intervention was determined using Kaplan-Meier analysis. From a total cohort of 270 patients, 37 (14%) patients with STA were identified and comprised the study group. Age at presentation was 2.1 ± 4.0 years, and follow-up was 11.8 ± 12.6 years (range 0-51). Long-segment STA was more common (89%) than discrete STA. Severity of STA was mild in 18, moderate in 10, and severe in 9 patients. Branch pulmonary artery stenosis was seen in 62% (23 of 37) of STA patients, and supravalvar aortic stenosis was seen in 54% (20 of 37) STA patients. Nine (24%) patients underwent intervention for STA: 8 cases were severe, and 1 case was moderate. Restenosis resulting in reintervention occurred in 5 of 9 (56%) patients, with 4 of 5 (80%) patients undergoing multiple reinterventions. Freedom from intervention was 89, 82, and 73% at 1, 5, and 20 years, respectively. One patient died. STA is common in WS and is generally the long-segment type. In patients with STA, interventions are common and usually occur by 5 years of age. Reintervention for STA occurs frequently.