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AI Helps Advance Understanding of Congenital Heart Defects

Screening for genes involved in congenital heart disease has come one step closer with funding for a research project from the University of Manchester that will use machine learning to predict which genes are likely to be involved in the development of the heart.

It's hoped that the research will "unravel the secrets of gene mutations that can lead to babies being born with abnormalities in their hearts". 

The project, funded by the British Heart Foundation (BHF) to the tune of a grant of £140,951, follows from previous awards to project leader Dr Kathryn Hentges PhD, a reader in the division of evolution & genomic sciences at the University.

The 2-year project aims to build on the team's earlier work on genetic variants linked with the risk of congenital heart disease. The latest study will enable better understanding of which specific genes are most likely to cause heart defects, and thus "speed up the process to achieve a genetic diagnosis for people with congenital heart defects".

Most Children Now Survive to Adulthood

One in every 133 babies in the UK is born with a heart condition, which amounts to over 5000 babies per year. According to the BHF, each day around 13 babies in the UK are diagnosed with congenital heart disease. Most cases are due to defects arising during the crucial stages of heart development, around 2 months into pregnancy and sometimes as a result of genetic influences.

Affected children often need one or more corrective cardiac procedures. In the 1960s, the majority of babies diagnosed with severe congenital heart disease "did not make it past their first birthday", according to the BHF. Today, as a result of improvements in paediatric heart surgery and clinical care, 8 in 10 survive into adulthood. This means that the number of adults with heart conditions is increasing at an estimated rate of 5% per year.

Announcing the new grant, the researchers described their project as "another step towards understanding how the heart can develop incorrectly, and ultimately help to inform future research that it is hoped could eventually prevent heart defects in babies from happening at all".

Project Will Speed Genetic Diagnosis

The funding will allow the team to continue analysis of the genes causing heart disease, using artificial intelligence (AI) to find out if they are the same genes as those found with mutations in congenital heart disease. Dr Hentges said: "I've always had an interest in understanding the causes of birth defects in general, and particularly why new gene mutations cause children to be born with these defects.

This project will help speed up the process to achieve a genetic diagnosis for people with congenital heart defects because it will identify the genes that are the most likely to cause these defects," she explained.

"We hope it will be able to give people an understanding of why something has happened to them that makes then different, and we also hope it will give peace of mind to parents that it is nothing they did in pregnancy that has caused the harm.  

Dr Hentges says that, in speaking to clinicians, parents feeling guilt when their child is born with a congenital disease has been identified as "a huge issue".

"So, I think it will help a lot of people, helping parents know they didn't do anything wrong, as well as giving them a specific diagnosis so that in future they will understand the course of the disease progression and make sure they get the best care for their child as they grow up."

In the longer term, as well as providing patients and clinicians with new knowledge about the underlying causes of congenital heart diseases, Dr Hentges hoped the research "could pave the way to future screening for these genes". This could "provide families with options in reproductive choices".  

Better Understand Could Lead to Improved Treatment

Commenting on the announcement, Dr Tian Yu, research advisor to the BHF, said: "Today, thanks to research, more than 8 in 10 babies born with a congenital heart defect in the UK survive to adulthood. 

"However, we don't always know why their hearts haven't developed properly, and understanding this better could improve the way we diagnose and treat these conditions. 

"This research could help parents better understand why and how these defects occur and help them work with medical experts to ensure they can get the best care for their children as they grow up."