Article
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
Heart (British Cardiac Society) - 12 Feb 2025
DiGregorio Helene, Mansoorshahi Sara, Carlisle Steven G, Tovar Pensa Catherina, Watts Abi, McNeely Courtney, Sabate-Rotes Anna, Yetman Anji, Michelena Hector I, De Backer Julie F A, Mosquera Laura Muiño, Bissell Malenka M, Andreassi Maria Grazia, Foffa Ilenia, Hui Dawn S, Caffarelli Anthony, Kim Yuli Y, Citro Rodolfo, De Marco Margot, Tretter Justin T, McBride Kim L, Body Simon C, Milewicz Dianna M, Prakash Siddharth K
Abstract excerpt
BACKGROUND: Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.2DS), the contribution of rare copy number variants (CNVs) in this region to non-syndromic BAV is less clear. This study is aimed to assess the role of rare...
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