Heart condition in babies has same genetic roots as impaired brain development

Scientists have discovered genetic changes that may be responsible for a link between development problems in the heart and in the brain.

Although doctors have long known that congenital heart disease (which includes conditions such as a hole in the heart) can be associated with brain development, they did not know whether brain issues arose from complications from the heart condition, or whether they had a common genetic cause. This latest research, published today in the journal Science, suggests the latter is most likely.

Furthermore, the research found babies born with heart problems have a number of genetic changes in common, even when there is no family history of heart disease. These changes are thought to occur in the early stages of embryo development.

The researchers say babies with heart disease could be helped if they were tested early in life for the genes that are linked to brain development. This might lead to interventions that could improve school performance, employability and quality of life.

The work comes from a large consortium based in the US, collaborating with teams from the MRC Clinical Sciences Centre at Imperial College London, and other institutions. The researchers studied the genetic make-up of 1,200 individuals with congenital heart disease.

They not only found several new genes that cause congenital heart disease, but they also found genes that may cause both congenital heart disease and brain function.

Dr James Ware, author of the paper from Imperial's National Heart and Lung Institute, explained: “One question has been whether these neurodevelopmental problems are caused by the heart disease – perhaps due to problems with the blood supply to the brain, either because the connections to the heart are abnormal or because patients undergo complicated heart surgery as a baby –or whether the brain function problems and early heart problems are actually part of the same condition. We found that it’s all part of the one condition - the same genetic abnormalities are causing both sets of problems.”