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Article

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Molecular genetics & genomic medicine - 1 Oct 2020

Musfee Fadi I, Guo Dongchuan, Pinard Amélie C, Hostetler Ellen M, Blue Elizabeth E, Nickerson Deborah A, Bamshad Michael J, Milewicz Dianna M, Prakash Siddharth K

Abstract excerpt

BACKGROUND: Bicuspid aortic valve (BAV) is the most common cardiovascular malformation in adults, with a prevalence of 0.5%-2%. The prevalence of BAV in cohorts who were ascertained due to thoracic aortic aneurysms or acute aortic dissections (TAD) is as high as 20%. However, the contribution of causal BAV genes to TAD is not known. Therefore, we evaluated rare deleterious variants of GATA4, NOTCH1, SMAD6, or...

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Share to Aortic Aneurysm, Thoracic
Share to Aortic Disease and Treatment Approaches

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GATA4 Transcription Factor

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Share to Receptor, Notch1

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Identifiers

PMID: 32748548
DOI: 10.1002/mgg3.1406
PMCID: PMC7549564

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