Patients, families, charities and doctors join forces to set out priorities for research into congenital heart disease

Posted: 09/05/2023

Congenital heart disease (CHD) means a heart condition or defect that develops in the heart before a baby is born. There are many different types of CHD, all of which affect the heart in different ways. Sometimes, it is possible to detect that the condition has resulted from faulty genes or chromosomes, other times, it is impossible to determine the cause.

CHD is the most common type of birth defect, affecting 13 children born every day in the UK. However, detecting CHD is not always easy and only around half of cases are detected on routine antenatal screening before a baby is born. Therefore, delayed diagnosis remains a problem. If detected early, many with CHD can be treated with medication alone. However, there are still a large number who require open heart surgery, often within a year of birth, to avoid life-threatening complications. 

Due to medical breakthroughs, it is currently estimated that around 97% of children born with CHD will survive into adulthood and that there are over 250,000 adults living with CHD in the UK. Almost all will need lifelong follow-up in specialist clinics to manage their disease and some may develop complications related to their condition, requiring ongoing hazardous reinterventions, including surgery to replace prosthetic implants such as valves, conduits or pacemakers. 

Recent NHS England statistics for cardiac patients make for worrisome reading. At the end of February this year, the number of people on cardiac waiting lists had risen to a record high of nearly 372,803, an increase of over 25,000 from the end of August 2022, just six months previously. Around one third of patients on cardiac waiting lists have waited over four months (the maximum waiting time target) for potentially life-saving heart care. In addition, 9,557 people were waiting over a year for time-critical heart tests and treatments – another record high. Just 28 people were waiting this long in February 2020.

Given this backdrop, it is no wonder that a group of organisations recently came together to focus their efforts on ensuring research into CHD is targeted to respond to the priorities of those living with the condition. This group was named the Congenital Heart Disease Priority Setting Partnership (PSP). Throughout 2022, the PSP brought together and collated responses from patients, carers, charities and clinicians to identify and prioritise unanswered questions for research into CHD. The aim was to enable researchers and funders to conduct research that really matters to those affected by CHD and which contributes to the development of techniques and treatments that will help improve their everyday lives. 

In December 2022, the PSP completed its project and published two lists of top 10 national research priorities (one for child and one for adult research), as set out below. 

Top 10 national priorities for research into child/antenatal congenital heart disease

• How can damage to organs (eg heart, brain, lung, kidney, bowel) during heart surgery in children with CHD be minimised to reduce complications, especially in those who require multiple operations?
• How can pre- and post-natal screening strategies (eg scans, pulse oximetry, novel techniques) be improved to achieve greater accuracy, avoid late diagnosis, and reduce complications from CHD?
• What are the effects of CHD, low oxygen saturations, and interventions on brain development and behavioural outcomes, and how can these be improved?
• How can the frequency or need for reoperations be reduced for people with CHD (eg improved valve/conduit longevity or that grow with the patient)?
• How can technology be used to deliver personalised care and improve outcomes in CHD (eg artificial intelligence, 3D printing, genomics, stem cells, organ regeneration)?
• What is the impact of living with CHD on mental health in children and how can this be improved through access to psychological support and other therapies?
• What is the impact of living with CHD on quality of life in children and how can this be improved?
• How can less invasive interventions be performed for CHD with the same outcomes as open-heart surgery?
• How can the longevity of the Fontan circulation be prolonged and the impact of complications (eg liver, protein-losing enteropathy (PLE), renal, endocrine, fertility) be reduced?
• What are the long-term outcomes and life expectancy of children born with CHD? 

Top 10 national priorities for research into adult congenital heart disease

• How can less invasive interventions be performed for CHD with the same outcomes as open-heart surgery?
• How can the longevity of the Fontan circulation be prolonged and the impact of complications (eg liver, protein-losing enteropathy (PLE), renal, endocrine, fertility) be reduced?
• What is the impact of living with CHD on mental health in adults and how can this be improved through access to psychological support and other therapies?
• How can technology be used to deliver personalised care and improve outcomes of those with CHD (eg artificial intelligence, 3D printing, genomics, stem cells, organ regeneration)?
• What are the risks and limitations associated with pregnancy, childbirth, and motherhood for women with CHD, and what information and support is available?
• What are the best treatment strategies for heart failure in adults with CHD, in particular those with a systemic right ventricle?
• How can the management of arrhythmias, including sudden cardiac death, in adults with CHD be improved?
• How can the indications, timing of referral, and outcomes of transplantation and long-term mechanical support in adults with CHD be improved?
• What is the impact of living with CHD on quality of life in adults and how can this be improved?
• How can the frequency or need for reoperations be reduced for people with CHD (eg improved valve/conduit longevity or that grow with the patient)?

Rosa Shand, associate in the clinical negligence team at Penningtons Manches Cooper, comments: “This research is a major step in the right direction, helping those involved to find answers to the questions that are weighing most on the minds of children and adults living with congenital heart disease. However, there is still more to be done within the healthcare system to support their needs. Sadly, the statistics show that those with heart and circulatory diseases face many difficulties in accessing necessary tests and treatments. This is reflected in our own work - we see many examples of tragedies where a patient suffering from a cardiac condition has not received timely care.”

If you or a family member have any concerns regarding the cardiac care you have received, the Penningtons Manches Cooper team is here to provide initial advice. Please contact us on freephone 0800 3289 545, email clinnegspecialist@penningtonslaw.com or complete our online assessment form.

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