Abstract
Bicuspid aortic valve (BAV) can be both sporadic and hereditary, is phenotypically variable, and genetically heterogeneous. The clinical presentation of BAV is diverse and commonly associated with a high prevalence of valvular dysfunction producing altered hemodynamics and aortic abnormalities (e.g., aneurysm and dissection). The thoracic aortic aneurysm (TAA) in BAV frequently involves the proximal aorta, including the aortic root, ascending aorta, and aortic arch, but spares the aorta distal to the aortic arch. While the ascending aortic aneurysm might be affected by both aortopathy and hemodynamics, the aortic root aneurysm is considered to be more of a consequence of aortopathy rather than hemodynamics, especially in younger patients. The management of aortic aneurysm in BAV has been very controversial because the molecular mechanism is unknown. Increasing evidence points toward the BAV root phenotype [aortic root dilation with aortic insufficiency (AI)] as having a higher risk of catastrophic aortic complications. We propose more aggressive surgical approaches toward the BAV with root phenotype.
Highlights
Bicuspid aortic valve (BAV) affects 1–2% of the general population (Martin et al, 2007)
Disruption of Notch signaling in transgenic mice is correlated with faulty neural crest cells patterning as well as unequal aortic valve leaflets with bicuspid-like morphology and aortic arch abnormalities characterized by disorganized aortic wall histology with dispersed vascular smooth muscle cells (Broberg and Therrien, 2015)
While many studies have reported a linkage of BAV to NOTCH1, NOTCH1 mutations do not function in BAV in all instances
Summary
Bicuspid aortic valve (BAV) affects 1–2% of the general population (Martin et al, 2007). The familial clustering suggests an autosomal dominant pattern of inheritance with reduced penetrance (Martin et al, 2007) There are both single and multiplex affected families, which indicates there may be multiple means of inheritance for BAV (Martin et al, 2007). We believe BAV/TAA should be treated based on phenotype of aortic root involvement. BAV with root phenotype TAA [aortic root dilation and aortic insufficiency (AI)] should be treated more aggressively surgically; and less aggressively if the aortic root is not involved. BAV/TAA is treated with a blanket approach, but additional research could lead to more phenotypic-specific guidelines to improve patient outcomes
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
