The bicuspid aortic valve (BAV) is the most common birth defect in humans, affecting between 1-2% of the population. In this alteration, instead of having the usual three symmetrical leaflets (each one of the membranous sheets of the atrioventricular and semilunar valves of the heart), those affected have two asymmetric ones. malformation is a frequent cause of aortic stenosis and endocarditis and is associated with early calcification of the aortic valve. The valve replacement surgery it is currently the only effective treatment.
However, this situation could change with the progress made by the results of a new study published in JAMA Cardiology carried out by an international team co-directed by Jose Luis de la Pompahead of the group at the National Center for Cardiology Research (CNIC).
Data from this innovative multicenter study indicate that the bicuspid aortic valve is the result of mutations in the MINDBOMB1 (MIB1) genesome of which have been described for the first time in the new work, although there are also others that were previously reported by the same group in a study that collected Nature Medicine.
The researchers hope that these discoveries will have a significant clinical impact helping the future design of pharmacological treatments as an alternative to valve replacement surgery.
De la Pompa explains to this outlet that this basic research study identifies a crucial genetic marker of the development of an abnormal aortic valve (bicuspid or BAV), by demonstrating the causal involvement of the MIB1 gene in the formation of the BAV in humans.