Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy.

ABSTRACT: Bicuspid aortic valve (BAV) associated with aortopathy is the most common congenital heart disease in the general population. Far from being a simple harmless valve malformation, it can be a complex and heterogeneous disease and a source of chronic and acute pathology (early valvular disease, aneurysm, dissection). In the previous years, intense research has been carried out to find out and understand its mechanisms, but the pathophysiology of the disease is still not fully understood and many questions remain open. Recent studies have discovered several genetic mutations involved in the development of valvular and aortic malformations, but still cannot explain more than 5-10% of cases. Other studies have also focused on molecular alterations and cellular processes (TGF-β pathway, microRNA

SUBMITTER: Junco-Vicente A 

PROVIDER: S-EPMC8198265 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature