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Scientists hope to solve the mystery behind sudden cardiac arrests in young people by establishing a genetic database of everyone under the age of 50 with rare heart conditions and their families.
The Garvan Institute of Medical Research has launched a new registry that will collect the medical records and blood samples of every person in NSW who has suffered a sudden cardiac arrest between the ages of one and 50.
Sara Cantera suffered a cardiac arrest when she was 20 years old. Credit: Peter Stoop
Most sudden cardiac arrests in people under 35 are caused by inherited genetic conditions, and only one in 10 people survives.
They occur when the heart malfunctions and abruptly stops beating, leaving the brain and vital organs starved of oxygen. They are different to heart attacks, which are caused when a coronary artery is blocked, preventing the flow of blood to the heart.
Associate Professor Jodie Ingles, the cardiac genetic counsellor leading the study, said the registry will help provide support and information to survivors and families who have lost loved ones to sudden cardiac arrest, while identifying underlying genetic causes that may lead to new treatments.
“Unfortunately for many patients, the first presentation of having an inherited heart disease is actually sudden cardiac death,” she said. “That can be an incredibly abrupt way to learn that you have a condition. There’s no second chances.”
“I wouldn’t want someone to go through what I’ve gone through because it was such a scary experience.”
Sara Catena is one of the first people in NSW to sign up to the registry. She was just 20 years old when she suffered a cardiac arrest at home in Newcastle.
She was initially diagnosed with long QT syndrome, a disorder of the electrical system that controls the heartbeat, and had a small defibrillator implanted in her chest.
Later genetic testing revealed she actually had arrhythmogenic right ventricular cardiomyopathy, a rare and inherited disorder that replaces normal heart muscle with fatty, fibrous tissue that interrupts normal electrical signals in the heart.
“Thinking back on it now, you kind of go, ‘Oh my god, you’re 20 years old and you’ve just survived a cardiac arrest’,” she said. “But having the genetic testing helped me understand what was wrong and that it can happen any time from your teenage years … and helped my family [understand that] this is a disease that’s running through the family.
“I wouldn’t want someone to go through what I’ve gone through because it was such a scary experience.”
Professor Chris Semsarian, a cardiologist at the University of Sydney’s Centenary Institute and Royal Prince Alfred Hospital, said capturing the cause of sudden cardiac arrest or death on a statewide database would help clinical cardiologists provide family members with better information about their genetic risks.
“As a cardiologist you can [then] start to do things to prevent sudden cardiac arrest in other parts of the family,” he said. “This will hopefully improve access across the state.”
The registry will collate and securely store cardiac data from survivor volunteers, family members, NSW Ambulance and coroners reports.
It mirrors a similar initiative in Victoria that has collected the cardiac information of 3500 patients since 2019.
About 3000 Australians between one and 50 years old suffer a sudden cardiac arrest each year.
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