Childhood heart disease

Child getting heart listened to by doctor

Childhood heart disease (CHD) refers to heart defects, infections or exposures that affect the heart’s ability to work efficiently, thereby reducing the body’s oxygen supply.

A child can experience heart disease from when they are born (congenital) or later in childhood (acquired).

Children with congenital heart disease are born with structural defects in their hearts, such as holes in the heart or narrowed/leaky valves.

There are many causes of acquired heart disease, including infections (rheumatic heart disease) and exposure to certain cancer therapies.

Children with CHD experience poor growth, difficulty feeding, pale skin, fast breathing, tiredness, blue skin, lips and nails.

Medical and surgical advancements mean that many children with CHD are now surviving into adulthood. However, treatments for patients in severe heart failure are limited, with some patients in end-stage failure requiring mechanical circulatory support and heart transplantation.

Who does it affect?

Heart disease is the leading cause of death and disability in children
Every year in Australia, one in 100 babies born is affected by congenital heart disease, which equates to approximately 3,000 children per year
For the first time in history, there are more adults than children living with childhood-diagnosed heart disease

Our childhood heart disease research

We are focused on improving the lives of patients with childhood heart disease.

Our Heart Research group assesses cardiovascular function and conducts studies to improve understanding of heart disease in children and young adults. This includes new ways to protect the heart during surgery and exploring the effect of cord blood cells on heart function in complex heart disease. As the nationally funded centre for paediatric heart transplantation in Australia, we have a particular interest in diseases affecting the heart muscle and advanced heart failure management.

Our Heart Regeneration and Heart Disease groups aim to transform the treatment of childhood heart disease using stem cell technologies. Both groups harness the power of pluripotent stem cells to create human models of human disease as a platform for therapeutic development. The research pipeline spans the full spectrum, from the operating theatre to the single cell, taking full advantage of the unique capacity of the Melbourne Children’s campus. The Heart Regeneration and Heart Disease groups are world leaders in generating heart organoids from patient stem cells. Our researchers use the heart organoids to investigate the causes of CHD in each patient, screen for drugs that damage or regenerate heart tissue, as well as investigate genetic causes of CHD.

The Melbourne Centre for Cardiovascular Genomics and Regenerative Medicine (CardioRegen) is a research centre on the Melbourne Children’s campus. CardioRegen is focused on improving the lives of patients with childhood heart disease. Our team of researchers and clinicians use genomics and stem cell medicine to understand the causes of CHD and the discovery of new treatments.

The Heart Flagship is a strategic and collaborative research program aiming to prevent or delay the onset of heart failure in infants, children, and the adults they will become. Within the Flagship is the Patient Advocacy Group (PAG), which gives a voice to heart failure patients and their families, and creates educational tools for the wider community to understand the journey of these patients. One of the key activities of the Flagship is the development of a stem-cell-derived bioengineered heart tissue patch for children with heart failure.

The Australian Cardio-Oncology Registry (ACOR) is a world-first combined paediatric and adult cardio-oncology registry designed to capture clinical, epidemiological and pharmaceutical data for every patient treated with cardiac toxic therapies. ACOR researchers are investigating which children, adolescents and adults are more vulnerable to cardiovascular disease or heart failure after treatment with cancer drugs. Genetic tests and heart imaging will determine who is at risk of heart damage so heart-protective medications can be applied.

Impacts of our research

Impacts of our research

Discovering the regenerative potential of the newborn heart and producing heart organoids from patient stem cells. These organoids are utilised to better understand heart development and disease, test new treatments and create bioengineered heart tissues for preclinical testing. We’ve already used them to find two potential drugs that may regrow damaged heart tissue.
Establishing a world-first paediatric and adult Australian Cardio-Oncology Registry (ACOR). It aims to discover heart-protective medications and pave the way for cardio-oncology clinics nationwide to better prevent, detect, monitor and treat cancer patients with heart disease.
Informing diagnosis and management of child cardiomyopathy (heart muscle disease).
Improving our understanding of the health economics of paediatric heart transplantation in Australia.
The first analysis of human heart maturation using cutting-edge single-cell transcriptomic technology. This shows significant difference in how the male and female heart matures as we grow up.
The development of new methods to assess blood flow now allows us to measure the changes in diverse acquired and congenital heart conditions. These may have important long-term effects on heart function and cardiovascular risk.
Risk assessment and management of abnormal heart rhythms and sudden death in the young allows us to modify the course of these potentially devastating events. Members of our Flagship team are involved in the End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest.
Using our stem cell heart organoids to test for new drugs to treat COVID-19-mediated cardiac damage.

Our vision

Our vision is to improve management of childhood heart disease and develop new therapies to treat the increasing prevalence of heart failure.

Where to next?

Melbourne Children’s surgeons, clinicians and researchers have united to transform outcomes for children with heart disease and heart failure. Our multidisciplinary team is currently performing preclinical testing of new therapies for heart failure, and we aim to drive these into clinical translation in the future.