-1 in 7,500 to 20,000 people.
-Deletion of >25 genes on chr 7 (CLIP2-NCF1-ELN)
-Intellectual disability (visual-spatial tasks -> drawing)
-Outgoing, engaging personalities, ADD)
-Supravalvular aortic stenosis
-Connective tissue disorder, short stature
-Vision and GI pblms
-Type 2A von Willebrand syndrome
is common in patients with severe aortic stenosis. Von Willebrand factor abnormalities
are directly related to the severity of AS and are improved by valve replacement.
In 1958, Heyde published 10 cases of aortic stenosis (AS) and arteriovenous
malformations (AVMs) of the gastrointestinal tract in NEJM. Yet the existence of this
syndrome has been controversial. In a prospective study, Bhutani and colleagues did
not find an increased prevalence of AS in 40 patients who were previously diagnosed
with AVMs. However, other studies found a significant association between the two
|Syndromes Associated with AS