Dr Daniel Reinke in the laboratory

Funds raised for hypertrophic cardiomyopathy

Channel 7 Telethon Trust funding boost for research into big heart syndrome

19 April 2024

Scientists at the Institute’s hub at The University of Western Australia have been awarded a grant from the Channel 7 Telethon Trust to develop a new tool to identify children at risk of developing hypertrophic cardiomyopathy (HCM).

Dr Daniel Reinke and Professor Livia Hool

HCM is the leading cause of sudden cardiac death in children aged between five and 15 years but currently, there is no way to assess if, and when, the disease will develop and how serious it will be.

Dr Daniel Reinke, a member of the Ben Beale Laboratory for Cardiovascular Research led by Professor Livia Hool, will now use a grant from the Channel 7 Telethon Trust to develop a tool it is hoped will enable earlier and more precise treatment. Dr Reinke says:

“HCM is the most common genetic cardiovascular disorder in Western Australia but far too often the first indication someone has HCM is when they have an unexpected cardiac event.

“It’s vital that those at risk are diagnosed far earlier so we can prevent these catastrophic events from occurring in the first place. The funding from the Channel 7 Telethon Trust will go a long way to helping families affected by HCM.”

HCM is normally diagnosed when symptoms first present and can be confirmed when the patient undergoes genetic testing. The risk can be further clarified when family members are also tested. Current HCM guidelines recommend the testing of children of known HCM gene carriers when they reach the age of twelve. Annual screening is also recommended in children with known HCM gene mutations.

However, currently available predictive testing for HCM is unable to identify which patients will go on to develop symptoms of HCM which can result in long-term uncertainty.

Dr Reinke is working on a new diagnostic tool to identify altered metabolic pathways in patients who have not yet developed HCM.

This would enable early preventative treatment with a new generation of drugs. Professor Hool, the Wesfarmers, UWA-VCCRI Chair in Cardiovascular Research, says:

“This would be a world-first test and help children and families across Australia and the world over. It will not only provide relief and certainty it would also save lives.”

HCM, which causes the heart to become dangerously large, affects around one in 500 people but some estimates suggest it could be far more common and affect one in 200.

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