Researchers Find Genes Associated with "Holes in the Heart" in Children

Researchers from the U.K. have found a gene that's linked with a congenital condition called "hole in the heart". The discovery could help thousands of babies that are born with the condition.

Holes in the heart are simple defects present in the heart at birth. These defects change the way blood flows to and away from the heart. A hole in the in the septum between the heart's two upper chambers is called an atrial septal defect (ASD) - a septum is the inner wall that separates the two sides of the heart. Another type of hole in the heart is the ventricular septal defect, which is a hole in the septum between the heart's two lower chambers. Many children today receive an early diagnosis and treatment for the condition.

The present study was lead by Bernard Keavney from Newcastle University, whose research team looked at the information obtained from more than 2,000 children born with the condition. The genetic markers among the children with the condition were then matched with genetic markers of more than 5,000 people from the general population. The researchers found a genetic marker that was associated with the development of atrial septal defect.

"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," said professor Bernard Keavney, from Newcastle University and The University of Manchester, according to a news release.

Keavney's study team included researchers from Newcastle, Nottingham, Oxford and Leicester universities in the U.K., along with colleagues in Europe, Australia and Canada. The study is published in the journal Nature Genetics and was funded by the British Heart Foundation (BHF) and the Wellcome Trust.

"ASD 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 10% 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," Keavney added.