Australian breakthrough sheds light on cause of chronic heart failure
An Australian laboratory has made a breakthrough discovery into the cause of chronic heart failure, linking a double gene mutation with a significantly increased risk of disease development.
Researchers at Sydney’s Centenary Institute believe the finding, published today in the premier international cardiovascular disease journal Circulation, will have implications for risk determination in patients and the development of improved treatments for those living with severe heart failure.
Associate Professor Christopher Semsarian, Head of the Molecular Cardiology Research Group at Centenary, explains that previous investigations have focused on singe gene mutations leading to disease and his team’s work is the first to successfully determine the impact of double gene mutations in familial cardiomyopathies.
“While previous studies have concentrated on the impact a single gene mutation has on heart failure, this wasn’t accounting for the overall risk of a patient developing disease,” says Professor Semsarian. “We decided the key questions were: what happens when there is more than one genetic problem and what impact does this have on clinical outcome?
“In developing a unique model to look at this, we found the double-gene mutation invariably led to severe heart failure and early death. This goes some way to answering the question of why some people have a greater risk of developing severe heart failure than others.”
One of the most important implications of the discovery will be the ability to more accurately assess a patients’ risk of developing heart failure.
Professor Semsarian explains: “Understanding the impact of the double gene mutation may help to identify those family members who are at greatest risk of developing heart failure, and therefore provide clinicians with a unique opportunity to initiate prevention strategies earlier in life, allowing for better disease management.”
Additionally, the discovery provides a platform for further investigation into treatment options for sufferers of heart failure.
“We now have a model of severe heart failure that develops very quickly and this presents enormous potential for the development of better treatments. This is the next step for our research group which is very exciting,” Professor Semsarian says.
Australia’s ageing population is a considerable concern for incidence of heart failure, with one in 10 Australians aged over 65 currently developing the condition.
“Heart failure is unfortunately very common in Australia. This affects not only the patient and their loved ones, but also places an increasing burden on our healthcare system,” says Professor Mathew Vadas, Executive Director of the Centenary Institute. “Given this, the work being undertaken by Professor Semsarian and his team is a critical step in reducing the impact of heart failure on the Australian community.”
Acknowledgement: this research is supported by the National Heart Foundation and National Health and Medical Research Council.
For more information, a copy of the abstract or to arrange an interview with Professor Christopher Semsarian, contact:
Erin Sharp, Communications Coordinator, the Centenary Institute
p: 02 9565 6118 m: 0431 029 215 e: