Key result
A contemporary narrative review of bicuspid aortic valve aortopathy highlights the roles of genetics, epigenetics, extracellular matrix integrity, and early aortic valve insufficiency in aortic dilation.
Why the study?
With rapid advancements in genetics, molecular science, and imaging expanding the literature, this review aimed to categorize and summarize articles published on bicuspid aortic valve aortopathy over the last five years.
This review summarizes recent advancements in the genetic, molecular, and hemodynamic understanding of bicuspid aortic valve aortopathy, highlighting areas for future diagnostic and therapeutic research.
No immediate change to bicuspid aortic valve management; hypothesis-generating for genetic and molecular targets in aortopathy research.
Bicuspid aortic valve (BAV) is the most common congenital heart defect. Along with the expeditious advancements in genetics, molecular science, and imaging, the body of literature surrounding BAV has grown immensely in recent years. The purpose of this review is to categorize and summarize articles published regarding bicuspid aortic valve aortopathy in the last five years. The increased availability of genomic testing has allowed the study of inherited factors contributing to BAV, with associations between variations in several genes and the development of aortopathy. It has also been found that epigenetics and microRNAs play a critical role. Molecularly, the arrangement of the extracellular matrix and its various components are related to the strength of the aortic wall. Compromises in the extracellular matrix have been shown to limit the ability of the smooth muscle cells and fibroblasts to maintain the integrity of the aortic wall. Advancements in cardiac imaging, notably magnetic resonance imaging, have allowed for intense study of the hemodynamics of various cardiac lesions. Recent articles have proposed that early aortic valve insufficiency rather than stenosis leads to aortic dilation. After reviewing recent publications regarding BAV and the development of aortopathy, the authors acknowledge that there is much still unknown. Further research in the fields addressed in this review will allow for improvements in diagnostics and treatments for affected individuals.
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Burns et al. (2022) conducted a review in Bicuspid aortic valve aortopathy. A contemporary narrative review of bicuspid aortic valve aortopathy highlights the roles of genetics, epigenetics, extracellular matrix integrity, and early aortic valve insufficiency in aortic dilation.
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