Searching for the causes of congenital heart disease

Investigation of the mechanisms of environmental causes of congenital heart disease

Congenital heart disease (CHD) is the most common human birth defect, affecting around one in 100 babies. Heart defects can occur because of faulty genes inherited from the parents, or they can be caused by environmental factors in the womb, such as if the mother has diabetes or takes certain medications while pregnant. However, the biological processes by which these environmental factors lead to CHD developing are unknown. In previous research Dr Sparrow has shown, in mice, that low oxygen levels in the womb can lead to heart defects in the developing offspring. Digging into the reasons for this, he discovered that a normal biological response to low oxygen – known as the UPR – interferes with the production of the stem cells that form the developing heart. He believes that the UPR might be triggered by other environmental factors (such as having low iron levels), and now he will investigate this in mice. Dr Sparrow joined the BHF Centre of Research Excellence in Oxford in 2015 to set up a research team investigating the environmental causes of birth defects. His research will help us to identify factors that raise the risk of heart defects, and could shape the advice given to women who are planning a pregnancy.