Why we set up a congenital heart disease registry in Australia

CONGENITAL heart disease (CHD) is the most common congenital disorder in newborns. Eight babies are born every day in Australia with CHD, which can lead to arrhythmias, cyanosis, dyspnoea, oedema and/or end with organ failure. A heart transplant is occasionally required in serious cases.

Most cases are diagnosed in infancy and early childhood, but diagnosis can also happen later in life. Ventricular septal defect is the most common CHD, followed by atrial septal defect, persistent ductus arteriosus, and then a number of more complex conditions, such as transposition of the great arteries, teratology of Fallot and “single ventricle” (or Fontan-type) circulations.

There is an overall lack of understanding of CHD and its complications, especially in adults. The paediatric population is now surviving into adulthood, which has never happened before. While that survival is a very good thing, adults with CHD are an emerging population about which many doctors (GPs and specialists alike) don’t yet know enough. This can prevent clinicians and health systems from providing patients with CHD and their carers with optimal management of their condition throughout their lives.

Until recently, there has been no way to track the prevalence of CHD and risk factors to patients for other conditions as they age. It’s hoped a unique national CHD registry will change that for the estimated 90 000 people living with CHD in Australia. Two key publications, Congenital heart disease requires a lifetime continuum of care: a call for a regional registry (2016) and Adult congenital heart disease in Australia and New Zealand: a call for optimal care (2019), respectively outlined the health burden and need for optimal care and a registry.

Fast forward to today, and the Australian New Zealand Congenital Heart Disease Registry has been developed in conjunction with the Congenital Heart Alliance of Australia and New Zealand to help improve the lives of people living with the condition, and their families.

The National CHD Registry will help doctors and researchers better understand the disease, track its prevalence and characterise the burden on the health system as well as the outcomes of people living with the condition.

The registry’s dataset will describe the outcomes, experiences and burden of CHD across the life-course to generate better evidence for optimisation of “whole of life” care for these people.

While children with CHD receive superb care when young, as they become teenagers more than half get lost in the system when their care is transferred from a children’s hospital to an adult one. Some young people may be in denial about their condition, not wanting to feel that they need ongoing medical support despite parents and doctors urging them to continue. Others have severe emotional trauma and avoid coming to appointments because that may trigger deeply held fears. Loss to follow-up can have dire consequences, as the death rate and serious complications are over three times higher for those not receiving ongoing and expert medical care.

The Registry will monitor through longitudinal data a patient’s medical needs as well as their social and other needs – were they able to finish school, get a job, did they have mental health issues – essential information when it comes to planning comprehensive support services, such as psychologists, nurse experts to provide support, exercise therapists, available National Disability Insurance Scheme places and so on.

Advances in medicine and technology mean children who once had a short life expectancy are growing older, having families and, in many cases, living longer lives with CHD, but it also means they are living with complex health problems resulting in an unprecedented wave of “pioneering survivors” never seen before.

This Registry will allow the Australian health care system to maximise the quality of care for people living with CHD and provide doctors and researchers with the best picture we can, across every Australian state and territory.

We started planning the nationwide CHD Registry in 2016 with a grant from Heart Kids Australia, and then in 2019, $6 million over 6 years in federal and state government funding were made available for the three phases to get the registry up and running.

First, a pilot investigation was initiated in Queensland and New Zealand. The second phase was a national survey of CHD patients and families about their needs, which found that non-adherence to guidelines was common in the adult CHD population, and this frequently resulted in important adverse clinical consequences, which were more likely in patients who had not received specialised care. The third phase involved the establishment and execution of the National Registry.

There have been some challenges as we realised that every state and territory stores health records differently, including differing software programs with varying levels of electronic and paper health record integration. Now, data will be systematically linked to all other state and federal health records in the future, through a central database, which will be updated as patients, who have agreed to be part of the registry, are seen.

Twelve hospitals treating people with CHD across Australia will take part in the National CHD Registry, with four hospitals already providing invaluable data to researchers – the Sydney Children’s Hospital at Westmead, the Royal Prince Alfred Hospital in Camperdown, the Royal Melbourne and Royal Children’s Hospitals in Melbourne.

We’ve already captured the medical information from about 40 000 patients, which is nearly 50% of patients with more complex CHD in Australia.

We expect the data collected will improve the lives and health outcomes of patients with CHD and give them more confidence and resource to live a full life.

Professor David Celermajer AO is the Heart Research Institute’s Director Clinical Research and CHAANZ Registry Chairman. In 2014, he was appointed as an Officer of the Order of Australia for services as a researcher and clinician in the field of cardiovascular disease. Professor Celermajer’s research areas of expertise include adult CHD, pulmonary hypertension, clinical cardiology and early origins of atherosclerosis.

Professor Geoffrey Strange is Senior Academic Lead at the Heart Research Institute for the CHD Registry (covering 12 centres across Australia and New Zealand). He is a health researcher who has specialist interest in “Big Data” and its application to further our understanding of a variety of cardiovascular diseases. He established the first CHD alliance for Australian and New Zealand (CHAANZ). Professor Strange is also the creator, Director and Chief Investigator of the National Echo Database of Australia and New Zealand (NEDA) – the largest mortality linked echocardiographic database in the world, covering more than 45 specialist centres across Australia.

Associate Professor Rachael Cordina is a Visiting Scientist with the Heart Research Institute. She is Chair of the Australia and New Zealand Fontan Registry and a clinical academic cardiologist with a special interest in adult CHD as well as maternal cardiology, exercise physiology, Indigenous health and pulmonary hypertension.

The statements or opinions expressed in this article reflect the views of the authors and do not represent the official policy of the AMA, the MJA or InSight+ unless so stated.