Understanding how the pulmonary artery and valve of the heart can become narrowed...

Understanding how the pulmonary artery and valve of the heart can become narrowed during fetal development

Dr Sophie Wiszniak, University of South Australia

2023 Vanguard Grant - Two Year

Years funded: 2024 - 2025

Congenital heart defects represent the most common birth abnormality, affecting 1 in 100 births, and are the leading cause of death in Australian babies. One of the most common congenital heart defects is Pulmonary Stenosis, which is characterised by narrowing of the pulmonary artery and/or valve of the heart. Restricted blood flow through the pulmonary artery puts excess stress on the heart, which progressively leads to heart failure later in life without surgical treatment. Despite scientific advances, it is still not understood how pulmonary stenosis arises during fetal development. We have discovered a critical cell-cell communication pathway that is important specifically for pulmonary artery and valve development, with genetic mutations in this pathway causing pulmonary stenosis. By understanding how these gene mutations cause pulmonary stenosis, we can provide disease knowledge to affected families, and in future may open avenues for development of less-invasive therapies that can halt disease progression and improve patient outcomes.