Scientists believe they have found a master gene that causes dilated cardiomyopathy

Biggest breakthrough in cardiomyopathy research in approximately 15 years

Scientists believe they have found a master gene which causes dilated cardiomyopathy

14 January 2015

A landmark genetics study published today offers new hope for patients with dilated cardiomyopathy, a condition in which the heart progressively enlarges, resulting in cardiac failure.

Dilated cardiomyopathy – the most common reason for a heart transplant — affects 1 in 2,000 Australians and 30 percent of cases are caused by an inherited gene change. Until now, the genes responsible for this disease in the vast majority of patients have remained elusive.

A global, collaborative study of 5,267 patients led by Harvard Medical School, Imperial College London and Singapore’s National Heart Centre, along with the Victor Chang Cardiac Research Institute, has confirmed that truncating-type mutations in specific areas of a heart protein called ‘titin’ are involved.

Professor Diane Fatkin from the Victor Chang Cardiac Research Centre and St Vincent’s Hospital was one of several UNSW academics involved in the paper. She describes the findings as “very significant”.

“Genetics have an important role in dilated cardiomyopathy but over the last decade there’s been a real problem in finding the genetic underpinnings of this disease,” explains Professor Fatkin.

After sequencing thousands of people (the authors) have confirmed that patients with dilated cardiomyopathy are much more likely to have truncating-type mutations than normal healthy people.

“This has major clinical implications because it means that we can now test for titin mutations in our families in a clinical setting and find answers for 1 in 4 people, which is just amazing.”

Though there is presently no treatment to reverse the effects of a titin mutation Professor Fatkin said genetic testing would allow specialists to pinpoint those carrying the gene within affected families and target them for early treatment.

“At this point in time, we will not be treating affected patients differently but we will be able to identify unaffected family members who are at risk of developing dilated cardiomyopathy at a much earlier stage start them on conventional therapies before symptoms develop. This will enable us to focus on prevention rather than treatment of patients with established severe disease,” she said.

“It means that genetic testing is now much more indicated as part of routine patient management for this disease, which it hasn’t been up until now. The bottom line is a lot more patients and their families will get results.”

UNSW Professors Anne Keogh, Christopher Hayward and Peter MacDonald were also involved in the study.