Objectives:
We evaluated the presence of a pulmonary artery diverticulum in patients with Williams syndrome in comparison with other conditons causing peripheral pulmonary artery stenosis (PPS).
Methods:
Angiographic characteristics of patients with a definitive diagnosis of Williams Syndrome, by fluorescence in situ hybridization, between 1990 and 2008 were reviewed. This data was compared with those diagnosed with PPS without Williams syndrome. Differentiating morphological features on angiography were compared between the groups along with demographic and echocardiographic data.
Results:
Twelve patients with chromosomal diagnosis of Williams syndrome who underwent cardiac catheterization were identified. Seven were male. Eleven patients (91%) had supravalvar aortic stenosis and eight (66%) had PPS. Pulmonary valve stenosis was seen in two patients. Eight patients who were negative for Williams syndrome and had PPS were identified during the same period. Two had Alagille syndrome and one had Noonan syndrome. Mean age at catheterization was five years in Williams group versus eight years in non Williams group. Pulmonary artery diverticulum involving the main pulmonary artery was documented in all the patients with Williams syndrome while none of the patients in other group had it. It originated at bifurcation of the pulmonary artery in all.
Conclusion:
Angiographic appearance of a diverticulum as an extension of the main pulmonary artery is a consistent finding in patients with Williams Syndrome. In addition to the classically described findings of supravalvar aortic stenosis and PPS, it can be considered as pathognomonic feature of Williams syndrome.