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Article

Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

PloS one - 1 Jan 2024

Carlisle Steven G, Albasha Hasan, Michelena Hector I, Sabate-Rotes Anna, Bianco Lisa, De Backer Julie, Mosquera Laura Muiño, Yetman Anji T, Bissell Malenka M, Andreassi Maria Grazia, Foffa Ilenia, Hui Dawn S, Caffarelli Anthony, Kim Yuli Y, Guo Dongchuan, Citro Rodolfo, De Marco Margot, Tretter Justin T, McBride Kim L, Milewicz Dianna M, Body Simon C, Prakash Siddharth K

Abstract excerpt

Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the...

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Identifiers

PMID: 39240962
DOI: 10.1371/journal.pone.0304514
PMCID: PMC11379187

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