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World-First: National Genetic Heart Disease Registry

24 August 2009: Every week eight young Australians die suddenly from a genetic heart disease, however this is no longer a certainty following the launch today of the world’s first genetic heart disease registry.

There are only two ways to prevent someone dying suddenly from an inherited heart disease - a life-saving implant of a defibrillator to kick-start the heart and specialised, personal treatment. With the aid of the Centenary Institute’s National Genetic Heart Disease Registry, more lives will be saved as doctors will be able to act quickly when a new diagnosis is made or when new treatment and breakthroughs in research occur.

Professor Chris Semsarian, head of the Molecular Cardiology Group at the Centenary Institute, said the National Genetic Heart Disease Registry is a very significant development in genetic heart disease research and establishing how many Australians suffer from these life-threatening diseases.

“Nowhere else in the world has it been possible to collect information about this silent killer in the one place. The National Genetic Heart Disease Registry will lead to significant advances in research into genetic heart diseases, better treatment options and ultimately prevention of sudden cardiac deaths,” said Professor Semsarian.

“Switching off the defective gene that causes heart disease is the ultimate goal of our work at the Centenary Institute. We aim to see, possibly within the next 10 years, the day when no-one has to face the trauma of a loved one suddenly dying from a genetic heart disease.”

Recruitment for the Registry has been underway since May 2007 and there are now more than 300 families involved. Professor Semsarian said this number is likely to now grow quickly, and expects more than 1000 families to be enrolled within the next five years.

People on the Registry either have an inherited heart condition or are the direct relative of someone who does. Direct relatives have a 1 in 2 (50 per cent) chance of also inheriting the heart condition. Hypertrophic cardiomyopathy (or HCM), which leads to a thickening of the heart wall, is the most common form of genetic heart disease, occurring in 1 in 500 people.

Before 1990 very little was known about gene faults which cause heart disease. Today, there are more than 40 known heart diseases with genetic causes.

Professor Semsarian said there is still far too little known about genetic heart disease, but the Registry is set to rapidly increase medical knowledge.

“A database of every Australian with a genetic heart disease and those at risk will have a huge impact on our research capacity as well as providing an effective way for health professionals to keep in touch with families who are at risk,” said Professor Semsarian.