Breakthrough discovery in the treatment of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy is an inherited heart disease that can cause the heart to become dangerously large and is said to be the leading cause of death in children aged between five and 15.

Professor Livia Hool from the Victor Chang Cardiac Research Institute in Western Australia explains that it is a horrible disease for which there are currently no effective treatment options, particularly for patients with an advanced form of the disease.

“A gene mutation can cause the heart to get so huge that it becomes a high energy-consuming muscle, stiff and hypercontractile. The resulting rhythm problems can cause a cardiac arrest and can lead to sudden death in seemingly young, fit children,” says Professor Hool.

Pioneering research by Professor Hool and her team has discovered that “by targeting a calcium channel in the heart with medication” the disease can be prevented “from occurring altogether, potentially reducing the number of children that die from sudden death”, she says.

“This is a fantastic result. For patients who already have an oversized heart, the study also found a partial reversal of the effects of the disease, with the heart returning to a more normal size.”

This breakthrough builds on a discovery made by Professor Hool and her team a decade ago.

“In 2010, we discovered a novel role for the calcium channel in the heart. We realised that in addition to regulating the rhythm of the heart the calcium channel also regulated how energy was provided to the organ.

“It was a real Eureka moment and it was key to this latest breakthrough. It set us on the path to make this potentially life-changing discovery.”

Professor Hool adds that this breakthrough research “has the potential to save many lives” nationally and internationally.

The research will be published in the Proceedings of the National Academy of Sciences USA on 24 August 2020.