Article ; Online: Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Journal of the American Heart Association
2024 Volume 13, Issue 8, Page(s) e034048
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 ...
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 or ascending aortic Conclusions: When WS is excluded, gene sequencing for SVAS is high yield, with the highest yield for the |
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MeSH term(s) | Humans ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics ; Williams Syndrome/surgery ; Aortic Stenosis, Supravalvular/diagnosis ; Aortic Stenosis, Supravalvular/genetics ; Aortic Stenosis, Supravalvular/congenital ; Retrospective Studies ; Genetic Testing ; Aorta |
Language | English |
Publishing date | 2024-04-09 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 2653953-6 |
ISSN | 2047-9980 ; 2047-9980 |
ISSN (online) | 2047-9980 |
ISSN | 2047-9980 |
DOI | 10.1161/JAHA.123.034048 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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