‘Hole in the heart’ disease gene discovered by Manchester researchers could curb childhood deaths

By Glen Keogh

Babies suffering from a ‘hole in the heart’ could stand more chance of survival as Manchester research has discovered a new gene associated with the disease.

It is the most common form of congenital heart malformation – occuring in seven of 1,000 newborn babies – and one of the major causes of childhood death and illness.  

British Heart Foundation (BHF) Professor Bernard Keavney from the University of Manchester and Newcastle University led the research. 

He said discovering the gene was an important step forward as it will lead to better understanding of why some patients are born with the disorder.

“We found that a common genetic variation near a gene called Msx1 was strongly associated with the risk of a particular type of CHD called atrial septal defect or hole in the heart,” he said. 

“Atrial septal defect is one of the most common forms of congenital heart disease, and it carries a risk of heart failure and stroke.

“We estimated that around ten percent of ASDs may be due to the gene we found. 

“We can now work to find out how Msx1 and/or its neighbour genes affect the risk of ASD.” 

The study was funded by the BHF and the Wellcome Trust and looked at more than 2,000 congenital heart disease patients.

It also measured more than 500,000 genetic markers, which vary in general population and they were compared to markers of more than 5,600 people in good health.

The researchers learned there was a relationship between a particular region of the human genome and risk of atrial septal defect.

Nature Genetics published the study and BHF senior research advisor Dr Shannon Amoils said more research is required into congenital heart disease, despite the great progress.

“Most babies born with a heart defect have a much brighter future now than they would have had in the 1960s when the BHF was founded,” she said.

“But we still need to fund much more research like this, to better understand the fundamental causes of congenital heart defects.

“These important results show how large collaborative studies are incredibly useful for uncovering the influence of our genes on congenital heart disease.

“As researchers continue to identify other associated genes, we will be able to better predict the chances of children being born with heart problems.

“We will also learn more about the underlying processes that can go wrong in the developing heart.”

Picture courtesy of Travor Bair, with thanks.

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