Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome

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 eval...

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Bibliographic Details
Main Authors: Sara B. Stephens, Tyler Novy, Gabrielle N. Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A. Kozel, Justin Weigand, Shaine A. Morris
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Subjects:
cardiovascular
genetics
SVAS
Williams syndrome
Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.123.034048

Internet

https://www.ahajournals.org/doi/10.1161/JAHA.123.034048

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