Newborn health is a major cause of concern for many parents.
Congenital heart defects are the most common structural abnormality of a single organ in newborns, occurring in every hundredth baby.
“Congenital heart defects can be very minor, in which case they are not necessarily symptomatic at any point of the person's lifetime. But they can also be very serious and, if left untreated, can quickly result even in the child's death,” says Emmi Helle, a paediatric cardiologist and Associate Professor of Paediatrics at the University of Helsinki.
At the University, Helle investigates the mechanisms of congenital heart defects from the perspective of both genes and environmental factors. There are many different heart defects.
“Some defects are congenital. Heart defects can occur in both parents and children in the same family. However, most occur in children with no history of such defects in the family. Genes affect their onset, but so do environmental factors.”
In other words, Helle’s research focuses on the genetic factors that cause heart defects as well as on everything else that predisposes people to their onset.
For her research, she has received three donations from the Swedish Stiftelsen Frimurare Barnhuset i Stockholm foundation. These grants amount to roughly one-fifth to a quarter of the total budget.
“For three consecutive years, I have received a significant grant of 500,000 Swedish krona, which has been a great help in advancing my research. Being a researcher in Finland feels like a continuous hunt for grants – you have to scrape up smaller sums from many sources. Larger individual sums give you more time for research.”
Culturing cells in the laboratory
Helle and her research group have collected gene samples from patients and also cultured myocardial cells in the laboratory.
“We take skin samples or blood cells from patients who have been diagnosed with congenital heart defects, producing pluripotent stem cells from them. These in turn can be turned into almost any type of cell found in the body, and we’ve produced myocardial cells.”
Using these cells, Helle and her group have investigated the difference between the myocardial cells of people with congenital heart defects and healthy individuals.
Preliminary findings have shown that genetic and environmental factors are interconnected.
“Our research has demonstrated that, for some reason, the myocardial cells of patients with congenital heart defects are less resistant to stress than the cells of healthy people.”
A registry study carried out by Helle’s group indicated that, for example, maternal type 1 diabetes increases the risk of heart defects in children, as does maternal obesity. According to Helle, maternal type 1 diabetes during pregnancy may strain the developing heart of the foetus.
Usually, congenital heart defects have been investigated from the perspective of either genetics or environmental factors.
“Interestingly, our preliminary results bring together their combined effects.”
In other words, the preliminary findings indicate that patients with congenital heart defects are genetically predisposed to the onset of such defects, which then develop under certain conditions.
“I would go so far as to say that combining the two perspectives is unique in the study of congenital heart defects.”
If the risk of heart defects for the foetus is higher than usual, the pregnancy can be monitored more closely and the newborn examined immediately after birth. This may even end up saving the child’s life.