Advances in early detection and treatment have significantly increased the life expectancy of children with congenital heart defects in Western industrialized countries. More than 90 percent of those affected reach adulthood. They alone account for more than two-thirds of all patients with this most common congenital malformation.

However, they are not cured. Even after successful correction, most people with congenital heart defects are dependent on lifelong therapeutic support and appropriate research.

Under the leadership of Professor Gerhard-Paul Diller, senior consultant at Münster University Hospital, an international team of cardiologists and pediatric cardiologists has compiled research findings from the past 20 years in a new study and compared them with current challenges and developments.

The result: Medical innovations have been able to significantly reduce the risk of disease and death in childhood. However, there is still a large knowledge gap in this area of cardiac medicine regarding the sustainable improvement of quality of life into old age.

Research Across the Lifespan

The researchers suggest that the health of patients should be a stronger focus of research and that long-term research and long-term monitoring of disease progression should be intensified over the entire lifespan.

Through strengthened international and interdisciplinary cooperation, results from genetic research as well as findings from echocardiography, MRI and laboratory examinations and knowledge of decisive environmental influences are to be included in the research.

For the future, scientists are focusing on value-oriented, individualized medicine that aims to prolong and improve the health phases of the individual. Artificial intelligence (AI) and machine learning will play an important role in this.

Complicated Conditions

It was not until the early 1990s that the study of congenital heart defects (CHD) became established as a recognized field. The diversity and multitude of individual disorders posed a major research hurdle. This has changed, not least due to the establishment of central registries such as the National Registry for Congenital Heart Defects in Germany. In 20 years, the medical care and care structure for people with congenital heart defects has thus also improved in Germany.

Lack of Long-Term Data

Of approximately 500,000 patients with congenital heart defects in Germany, 300,000 are adults today. This poses new challenges for medicine and the healthcare system. This is because, as life expectancy increases, complications arise, for example during pregnancy or in interaction with age-related diseases, drugs and interventions, which require special treatment. This increases the demands on health care.

"We still know too little about the causes of individual congenital heart defects and about their effects into old age to be able to intervene preventively in such a targeted way that we can reliably improve quality of life and thus keep healthcare costs under control," says Professor Gerhard-Paul Diller. The cardiologist, who specializes in adults with congenital heart defects, also attributes this to a lack of long-term data.

CHD Often Excluded from Pharmaceutical Trials

For example, children and adults with congenital heart defects are often excluded from larger pharmaceutical studies, he said. "This sharpens the validity of the results of pharmaceutical studies for a specific target group, such as novel DOACs, but undermines our ability to gain important insights into the long-term use of such innovations in people with congenital heart defects," Professor Gerhard-Paul Diller pointed out.

Overall, there is a significant gap between data and reliable findings in CHD research. In order to close this gap, long-term, register-based, multidisciplinary research using new, innovative study designs and AI-supported technologies is particularly important.

From Disease Research to Health Research

With the goal of permanently improving the quality of life in both congenital and acquired heart disease, research is therefore currently undergoing a change of direction. "We are moving away from the mortality and morbidity paradigm to long-term observation and research of health and disease trajectories. The focus of research interest today must shift from disease to health," says Professor Gerhard-Paul Diller.

With the knowledge that health is a consequence of genetic, biological, and socio-economic factors, and with the understanding that the health development of people with congenital heart defects involves a wide variety of processes of adaptation of the malformed organ and its functions, genetic as well as phenotypic and environmental and social factors must be included in research, he said.

CHD Patients Age Faster

The difference between chronological and biological age plays an important role in future research tasks. Nowhere is this discrepancy more pronounced than in the group of patients with congenital heart defects. Accordingly, age-related diseases such as stroke, diabetes, dementia, and cancer occur more frequently and at an earlier age in congenital heart disease patients.

"From genetic research, we now know which changes in chromosomes are associated with premature aging and age-related diseases in AHF patients. It is also known that these genetic changes are favored by stress factors such as obesity, depressive moods, loneliness," explains Professor Gerhard-Paul Diller. From an expanded research framework, the researchers hope to better understand such multi-layered processes in order to develop therapeutic and care models that meet the special needs of the growing group of adults with congenital heart defects.

Registries and Artificial Intelligence as Drivers of Innovation

These research tasks are becoming increasingly easy to accomplish based on the research foundations established over the past 20 years and with the help of increasingly advanced developments in artificial intelligence. "Today, we have at our disposal, on a registry basis, a great deal of important information on individual congenital heart defects and their development from infants to the elderly. Working under the umbrella of a large patient registry makes it easier to conduct randomized trials to increase the reliability of research results. A registry also allows long-term follow-up of patient data at comparatively low cost," explains Professor Gerhard-Paul Diller.

Another promising driver of innovation in the field of personalized medicine is the use of artificial neural networks and deep learning algorithms, which evaluate enormous amounts of data, for example from imaging examination procedures, within a very short time. "Initial studies show that machine learning methods lead to differentiated results for extremely complex questions, for example, with regard to predicting the course of diseases." The researchers are counting on long-term studies across the CHD lifespan leading to more targeted, more individualized, and value-oriented preventive healthcare and medical care - with great benefits for individual patients as well as for society as a whole.