Bicuspid aortic valve (BAV) is a common congenital heart malformation frequently associated with the development of aortic valve diseases and severe aortopathy, such as aortic dilatation, aneurysm and dissection. To date, different genetic loci have been identified in syndromic and non- syndromic forms of BAV. Among these, genes involved in the regulation of extracellular matrix remodelling, epithelial to mesenchymal transition and nitric oxide metabolism appear to be the main contributors to BAV pathogenesis. However, no- single gene model explains BAV inheritance, suggesting that more factors are simultaneously involved. In this regard, characteristic epigenetic and immunological profiles have been documented to contradistinguish BAV individuals. In this review, we provide a comprehensive overview addressing molecular mechanisms involved in BAV development and progression.
|Numero di pagine||8|
|Rivista||Journal of Molecular and Cellular Cardiology|
|Stato di pubblicazione||Published - 2019|
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Cardiology and Cardiovascular Medicine
Balistreri, C. R., Cavarretta, E., Paneni, F., Forte, M., Frati, G., Greco, E., & Sciarretta, S. (2019). An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease. Journal of Molecular and Cellular Cardiology, 132, 146-153.