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

Autor: Sara B. Stephens, Tyler Novy, Gabrielle N. Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A. Kozel, Justin Weigand, Shaine A. Morris
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 8 (2024)
Druh dokumentu: article
ISSN: 2047-9980
DOI: 10.1161/JAHA.123.034048
Popis: 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 or ascending aortic Z score
Databáze: Directory of Open Access Journals