Review paper
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
Volume: 27, Issue: 7, Pages: 1044 - 1053
Published: Feb 22, 2019
Abstract
Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections and ruptures. TAA is a common complication in patients with bicuspid aortic valve (BAV). Recently, rare loss-of-function SMAD6 variants were shown to contribute significantly to the genetic aetiology of BAV/TAA. Intriguingly, patients with craniosynostosis have also been reported to be...
Paper Details
Title
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
Published Date
Feb 22, 2019
Volume
27
Issue
7
Pages
1044 - 1053
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