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Why it matters
- Around 90 per cent of spontaneous coronary artery dissections (SCAD) occur in women
- The condition comes without warning and is caused by a tear in the inner layer of one of the blood vessels
- SCAD survivors have around a 20 per cent chance of having another attack
Annette Maher had her first heart attack in 2002. She was 39, fighting fit, and on her way to lunch with girlfriends when she felt a sharp pain “like a knife through the back of my chest”.
An ambulance rushed her to hospital, where doctors told Maher she was one of only a handful of women in Australia known to have suffered a spontaneous coronary artery dissection (SCAD), caused by a tear in the inner layer of one of the blood vessels.
Sisters Lana Huntley and Annette Maher have both suffered spontaneous coronary artery dissection, a rare form of heart attack affecting otherwise fit and healthy women.Credit: Louise Kennerley
The disease is rare – accounting for up to 4 per cent of all heart attacks – but has been an all too frequent occurrence in Maher’s family: she had another heart attack 17 years later and, in 2022, her sister Lana Huntley was unexpectedly struck down by a SCAD heart attack while having breakfast with friends.
“It wasn’t even on my radar … even when I was told in the back of the ambulance, ‘You’re having a heart attack,’ I rolled my eyes,” Huntley said.
Since Huntley’s heart attack suggested the condition could run in the family, the sisters have joined forces with Australian researchers to help unlock the genetic origins of the condition.
Research published in Nature Genetics on Tuesday identified at least 16 different genes associated with the condition, including the tissue factor gene F3 involved in blood clotting.
Unlike the majority of coronary disease, which is caused by plaque build-up around the arteries, SCAD is not associated with high cholesterol or blood pressure and tends to occur spontaneously in younger people.
“We don’t know why women get SCAD so much more commonly than men, so this study is a great insight.”
The condition accounts for a quarter of all heart attacks in women under 50 but knowledge of its causes and potential treatments has been held back by a lack of research in the field, said the Victor Chang Cardiac Research Institute’s executive director, Professor Jason Kovacic.
“We urgently need to learn more about this disease and to discover what is causing it; this disease can not only be life-threatening but in some patients it can reoccur without warning,” he said. “We owe it to SCAD survivors like Lana, who had no idea she was at risk of having a heart attack.”
Associate Professor Eleni Giannoulatou, who led the Australian arm of the study alongside Kovacic and colleagues at the Victor Chang, said the study identified subtle genetic changes that may increase the likelihood of a catastrophic tear or spontaneous bleed into the artery wall, ultimately leading to a SCAD heart attack.
“We now have a much clearer picture of the genetic risk of SCAD and how it is related to other cardiovascular diseases,” she said.
Professor Chris Semsarian, a cardiologist at the University of Sydney’s Centenary Institute and Royal Prince Alfred Hospital, said the variety of genes identified in the study would help inform research into the cause and prevention of the condition, and help diagnose cases that might otherwise have gone undetected.
“SCAD is often missed in the post-mortem because it’s such a subtle change,” he said. “It’s a great study, but it means a lot of work to try and figure out what it all means, and how we put it all together.”
Semsarian said the knowledge of diseases affecting women such as SCAD had been held back by a historical focus on diseases in “white European males”, but that was slowly changing.
“The things that have been missing, particularly in genetic research and heart diseases, are studies in women and studies of people of different ethnicities,” he said. “We don’t know why women get SCAD so much more commonly than men, so this study is a great insight.”
The Victor Chang research team is the first outside the United States to sign up to the International SCAD Registry, a database containing the medical history of 1271 patients informing global research into the rare condition.
Huntley is the first Australian to have their medical history added to the registry.
“Because [the current data] is all US-based, it’s a different culture, different lifestyles … when you factor in Australian lifestyles, that creates a bigger depth of knowledge,” she said. “It’s so vital we get answers so our daughters and nieces can be protected from this awful disease.”
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