Case studies

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

In a world first breakthrough, scientists at the Victor Chang 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 Institute, have pinpointed the genetic mutation causing the problem.

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

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.

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