Researchers from the Carlos III National Center for Cardiovascular Research have identified the genetic mutations that drive the most frequent congenital heart defects. The discovery paves the way for non-surgical approaches to treating aortic valve disease. (Citation: JAMA Cardiology)
Bicuspid aortic valve stands as the most prevalent congenital heart condition, affecting roughly 1% to 2% of people. This defect yields two asymmetrical valve leaflets instead of the normal three, which can complicate blood flow and heart function. At present, valve replacement surgery remains the primary, effective intervention. (Citation: JAMA Cardiology)
In a recent investigation, scientists linked bicuspid aortic valve disease to mutations in the MINDBOMB1 (MIB1) gene.
Using the CRISPR-Cas9 genome-editing tool, researchers manipulated mouse genes to pinpoint how the MIB1 gene drives proper heart development. The study revealed that disease progression coincided with dysfunction in the NOTCH signaling pathway, a key regulator of cardiac formation. (Citation: JAMA Cardiology)
These findings have guided researchers to consider drugs that modulate NOTCH signaling as potential tools for both the prevention and early diagnosis of bicuspid aortic valve disease in newborns.
The study was conducted through international collaboration, involving Hadassah and Sheba Hospitals in Israel, Georges Pompidou European Hospital and the University of Paris in France, the University of Antwerp in Belgium, Radboud University in the Netherlands, Harvard University in the United States, and the Karolinska Institute in Sweden. (Citation: JAMA Cardiology)
An emerging line of inquiry also points to how genetic factors influence fertility treatments. Researchers are examining new elements that could impact the success rates of IVF, aiming to improve outcomes for families seeking assisted reproduction. (Citation: JAMA Cardiology)