Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
Sara B. Stephens,
Tyler Novy,
Gabrielle N. Spurzem
et al.
Abstract:Background
We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS).
Methods and Results
This retrospective cohort study included patients with SVAS at our institution who had a negative evaluation for WS from May 1991 to September 2021. SVAS was defined as (1) peak supravalvar velocity of ≥2 meters/second, (2) sinotubular junction… Show more
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