Fatkin Laboratory Victor Chang Institute

Dilated Cardiomyopathy Research Breakthrough

Life changing diagnosis gives hope to family living with a deadly heart disorder

29 April 2016

In a world first breakthrough, scientists at the Victor Chang Cardiac Research Institute could now be able to prevent the onset of a deadly heart condition that has haunted a family of more than 50 members for decades.

After more than 10 years of meticulous research, Professor Diane Fatkin and her team at the Victor Chang Cardiac Research Institute, have pinpointed the genetic mutation causing the problem.

Passed from generation to generation, the family suffers from dilated cardiomyopathy (DCM), an inherited disorder that causes the heart to enlarge, leads to heart failure and, often, sudden cardiac death.

Prof Diane Fatkin looking at petri dish

The devastating disease has already claimed the lives of four of their loved ones, with two other relatives receiving life-saving heart transplants.

Never knowing who will be struck down next, the family has been desperate to discover how to put an end to their suffering.

“Previously the family didn’t know who would develop this terrible disease. Now, even with the children, we can tell who is at risk, just from their DNA. Plus we can inform them at the earliest possible stage,” Professor Fatkin revealed.

The discovery will enable doctors to start treating those affected long before they start to show any signs or symptoms of heart failure.

“We can start the family members on medication, modify their lifestyle and ensure they have an echocardiogram every year. In fact we believe through early intervention we might be able to delay the onset of heart failure, or better yet prevent it altogether,” Professor Fatkin explained.

“It’s so rewarding to finally be able to give this family the answers they’ve been searching for. The fact that we can easily identify those in danger before they develop a severe heart problem makes our years of research worthwhile!”

Prof Diane Fatkin Portrait

Collaborating with doctors at Harvard University, Professor Fatkin first started working with the family back in 2004 and began analysing the genetic make-up of all four generations.

“It was hugely time consuming! We had to hunt through the DNA of every single family member until we could be absolutely sure we had found the right gene mutation.”

“Our targeted research on this family spans more than 10 years. Studies of this size are highly unusual as most families have already been decimated by the disease. So, until now, there has been absolutely no follow up data of this kind anywhere in the world. It’s certainly a first,” Professor Fatkin added.

Importantly, the results can now be used to help diagnose other families with this life-threatening heart condition – giving them much needed hope after years of suffering.

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Acknowledgement of Country

The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.

Victor Chang Cardiac Research Institute - The Home of Heart Research for 30 Years