The ESC Textbook of Cardiovascular Medicine (3 edn)
46.20 Genetic diseases of the aorta: aortic diseases associated with bicuspid aortic valves
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Published:July 2018
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This version:April 2020
Abstract
This chapter summarizes the headlines on bicuspid aortic valve (BAV)-associated aortopathy regarding epidemiology, classification, genetics, haemodynamics, and clinical practice. Importantly, the exact pathogenesis of the BAV-associated aortopathy remains still not well understood. On the one hand, BAV is an autosomal dominant heritable disease with reduced penetrance and some underlying genes have beenidentified. On the other hand, as basic research in combination with advanced cardiac imaging revealed, altered flow characteristics caused by the abnormal geometry of the BAV are found to play a role in aortic dilatation through altered wall shear stress. Moreover, stenosis and regurgitation of these valves seem to be important. Remodelling of the aortic wall, with apoptosis of vascular smooth muscle cells and disruption of the media layer as a result, form the basis ofa loss of structural integrity of the aortic wall, making it prone to dilatation, dissection, and rupture.
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