Baby heart disease gene found

A new gene associated with a form of congenital heart 

disease in new born babies, known as `a hole in the heart`, 

has been discovered by scientists.

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 individual-specific genetic counselling for 

these people.

The study looked at over 2,000 CHD patients and measured 

over 500,000 genetic markers which vary in the general 

population.

The genetic markers in the patients were compared to the 

markers of 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, which they went on to confirm in additional cases 

of atrial septal defect and healthy controls.

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," a Dr. said.

 

"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. We can now work to find out how Msx1 and/or its neighbour genes affect the risk of ASD," said a Dr.

Researchers looked at all the major types of congenial heart disease (CHD), but they did not find a genetic marker common in all types of CHD.

"Our work also suggests that if we conduct larger studies we will be able to find genes that cause other types of CHD. Although we are not there yet, further studies may enable us to give better genetic counselling to high risk families," said a Dr.

"Also, when we identify genes important in the development of the heart because they have gone wrong, it helps us understand normal development better.

"Such an understanding is fundamental to any attempt to treat people with heart disease at any age - for example those suffering from heart failure - using regenerative medicine,"  said a Dr.