Genetic test to gauge heart attack risk under development

A test to tell if you carry genes placing you at risk of a heart attack is under development after the discovery of more than 160 potential culprits.

Margaret Kilby had the first of four heart attacks when she was just 35 years old — and the fit and healthy mum had no idea her genes placed her at risk.

But a breakthrough medical discovery by Australian scientists could soon spare people such as Mrs Kilby and their families such trauma.

The scientists at the Victor Chang Cardiac Research Institute — and others in the US and Europe — have discovered 162 genes that trigger heart attacks.

And they are hoping to ultimately develop a standardised genetic test that could be administered to people at 18 years of age, gauging their risk.

Those with the genes could be put on preventive medications and coached in lifestyle changes to avoid a heart attack.

The team is also working on new medications to target the heart-attack-causing genes.

“One of our previously suspected top genes – PHACTR1 – was validated as being among the top two genes for causing coronary heart disease,” said Executive Director of the Victor Chang Cardiac Research Institute, Professor Jason Kovacic.

“We are very actively studying PHACTR1 in my lab as we know it causes not only coronary heart disease but also a whole range of other vascular diseases including migraine, fibromuscular dysplasia and spontaneous coronary artery dissection.”

Margaret Kilby had her first heart attack at age 35. Picture: supplied

Mrs Kilby said her son was aged just seven when she experienced her first heart attack, on a boat during a beautiful day out on Sydney Harbor in 2002.

“When I was seven I lost my own father to a heart attack and it felt like history repeating itself, I can’t describe the enormity of my fear,” the now 54-year-old said.

Mrs Kilby survived three more heart attacks and had six stents inserted to keep her arteries open before she had heart bypass surgery at the age of 42.

A genetic test found she had inherited a condition called familial hypercholesterolaemia, which means her cholesterol levels would have been high from birth.

The condition can bring forward a heart attack or stroke by 20 or 30 years.

Mrs Kilby’s father was 42 when he died and her brother, who also has the gene, has suffered three heart attacks.

“I got my son tested at 15 at the suggestion of the doctor,” she said. “We were worried because there is a 50 per cent chance that the gene will be carried down but, luckily, he took after his father and didn’t have it so he was very pleased.

“We were all very pleased.”

On medication for life, Mrs Kilby follows a strict diet and exercise regime, even though doctors say the genes override diet in her case.

“Many people don’t want to know whether they have this gene – most of my family for instance, haven’t been tested,” she said.

“There is a lot of uncertainly in knowing but there is also a lot of power in having the information and being able to improve your own health as well as look out for symptoms.”

Originally published as Genetic test to gauge heart attack risk under development