A team of international researchers, part-funded by us, has discovered that some cases of congenital heart disease can be inherited from a person's seemingly healthy parents.
To help them understand the genetic causes of heart disease, researchers from the Wellcome Trust Sanger Institute and the University of Nottingham looked at the genetic information of 1,900 congenital heart disease patients and their parents. The paper was published in the scientific journal Nature Genetics.
One of the research team blogged about the findings. Read it here on our Medium blog.
Congenital heart defects are the most common type of birth defect, with a reported prevalence ranging from 6 to 13 per 1000 live births. In the UK alone there are about 4,600 babies born with congenital heart disease each year – 1 in every 145 births. It causes problems like holes in the heart, which in severe cases can require corrective surgery.
The different types of congenital heart disease.
Most congenital heart disease patients - around 90 per cent - have only isolated defects of the heart, and are called non-syndromic. The remaining 10 per cent of patients are described as syndromic congenital heart disease patients who have additional developmental problems such as abnormalities in other organs or an intellectual disability.
It had previously been thought that both of these forms of the disease might be caused by spontaneous new mutations which are present in the child and absent in the parents.
The study confirmed that people with rarer syndromic congenital heart disease often had spontaneous new mutations likely to interfere with normal heart development that were not seen in the parents. However, it also showed that people with non-syndromic congenital heart disease did not have such spontaneous mutations, and for the first time conclusively showed that they often inherited damaging gene variants from their seemingly healthy parents.
What does this mean for people with congenital heart disease?
Parents who have a child with congenital heart disease often want to find out how likely it is that any future children will be affected.
While even larger studies are needed to pinpoint the exact combination of genetic and environmental factors that contribute to heart disease, understanding these factors could one day help doctors advise parents more accurately about their chances of having a second child with the disease.
Our Associate Medical Director, Professor Jeremy Pearson, said: "Here, research has shown for the first time that congenital heart defects are often a question of genetic inheritance. In the future, as a direct result of this research, doctors may be able to offer much clearer advice to families where one member has congenital heart disease."
Find out more about our research
We fund millions of pounds of research into congenital heart disease.