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Cracking childhood
heart disease

“Phil and I have had open heart surgery and been left with large scars. I had mine when I was five. But I also knew, through our experiences and how much technology has advanced, that it would be okay.”

Their eldest daughter Gemma had a hole in her heart at birth, while Tessa had inherited Phil’s condition.

Congenital heart disease affects 42 babies born every week in Australia. And yet, despite the prevalence, doctors have absolutely no idea why 80 percent of cases occur.

But our latest discovery has potential to change that – and bring us closer to cracking childhood heart disease. 

Sisters, Gemma and Tessa have always shared a special bond.

A surprise breakthrough

After working tirelessly to examine a key protein called NKX2-5, which is essential for normal heart formation, scientists at the Victor Chang Cardiac Research Institute unearthed a network of unique proteins that could help us understand how congenital heart disease develops.

“It was very surprising because we thought we knew everything about this protein since it’s been intensely studied for over two decades,” says lead investigator Dr Romaric Bouveret.

“But now we’re realising there’s still much more we can learn. While we knew these proteins existed, what hasn’t been shown is that they actually interact with each other and form a network that is important for heart development.”

Scientists worked for two years on this project using advanced computer technology to search for patterns in DNA sequences. The breakthrough will allow them to identify the point at which abnormalities in the heart occur.

More than that, it could lead to new treatments, earlier diagnosis and more answers for parents with sick babies. Scientists will also be able to tell families the likelihood of having a second baby with a heart problem – something Sue says would have been amazing to know.

Gemma’s small hole in her heart closed over as she grew up without needing surgery, while Tessa still needs annual appointments with a paediatric cardiologist to ensure her mild pulmonary stenosis has not progressed.

For now, both girls are active, healthy and thriving.

Protein Network Breakthrough