Scientists from North-East help discover gene linked to hole-in-the-heart babies

6:00pm Sunday 26th May 2013 in News By Barry Nelson, Health Editor

A NEW gene associated with congenital heart disease in babies - known as "a hole in the heart" - has been discovered by researchers, including scientists from the North-East.

British Heart Foundation Professor Bernard Keavney, from Newcastle University and Manchester University, led the research which saw investigators from Newcastle, Nottingham, Oxford and Leicester universities in the UK, together with colleagues in Europe, Australia and Canada pool resources.

The discovery, published in Nature Genetics, will help lead to better understanding of why some patients are born with the disorder.

Congenital heart disease (CHD) is the most common form of congenital malformation, occurring in seven in 1000 babies born and is one of the major causes of childhood death and illness.

Most patients born with CHD now survive to adulthood, so identifying the responsible genes is important as experts attempt to provide genetic counselling for these people.

In about 20 per cent of cases, a predisposing cause can be identified, for example Down's Syndrome, but in the remainder of patients, although genes are recognised to be important, scientists do not know the identity of these genes.

The study, funded by the BHF and the Wellcome Trust, looked at over 2,000 CHD patients and over 5,600 people in good health who acted as a control group.

The researchers found a relationship between a particular region of the human genome and risk of atrial septal defect (ASD) - a "hole" between the heart's blood-collecting chambers, Professor Keavney said this was an important step forward. "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 per cent of ASDs may be due to the gene we found."

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Scientists discover new gene linked to hole-in-the-heart babies

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