Co Antrim woman welcomes genetic research breakthrough to target care for deadly heart condition
A CO Antrim woman who lives with a genetic heart condition has welcomed a ground-breaking medical discovery that could transform the diagnosis and treatment of the hidden disease.
Joanna Ireland (60) from Glengormley was diagnosed with hypertrophic cardiomyopathy (HCM) three years ago after suffering a cardiac arrest.
The genetic heart condition can be a silent killer that can be passed down through families and can cause sudden death in a small proportion of people who may develop a life-threatening heart rhythm.
But a new type of genetic change in the DNA of people with HCM had been found by Professor Hugh Watkins and his team at the Radcliffe Department of Medicine at the University of Oxford, funded by the British Heart Foundation (BHF) .
The major medical breakthrough - potentially the biggest advance in the knowledge of the genetic basis of the disease in 25 years - will help doctors better predict which family members need to be monitored for the condition and which can be ruled out from further tests or treatment.
Professor Watkins said: "We now have a new genetic tool that we believe will better predict which members of affected families will have a bad form of the disease, identifying those who need early intervention.
"It will also take away the worry for many families as it enables us to identify those who are unlikely to pass faulty genes onto their children. This will reduce the need for unnecessary genetic testing and regular follow-ups."
HCM affects around 3,800 people in Northern Ireland and most people have few, if any, symptoms. If undetected and untreated it could lead to a risk of sudden cardiac death, even in young people.
Ms Ireland was diagnosed with HCM after suffering a cardiac arrest during a fitness session in 2018. She said any breakthrough that can give families peace of mind is to be welcomed.
"It was while I was in hospital recovering that I learned I had HCM and it came as a massive shock," she said.
"My brother was also tested soon after and it was found that he too has HCM.
"I have three children and that worry is always there that you have passed it on to your children. So far none of them have shown symptoms but any new breakthrough that helps us understand this condition the better.
"Knowing they can play sport, start a family and do all those normal things without worry would be a massive relief."
Fearghal McKinney, head of BHF NI, said the research is a "major step forward in our understanding of the genetics that underpin hypertrophic cardiomyopathy".
"It will revolutionise the way we screen people who have family members with this silent killer," he said.
"This amazing breakthrough shows just how important funding research is. It delivers tangible results that have the potential to save and improve the lives of people living in Northern Ireland."