Trailer Herzspezialisten

Competence Network for Congenital Heart Defects

Who is Going to Treat Us?

In 2007, Ulrike Knopf is starring alongside four other "Heart-Experts" in the documentary of the same title. Asked by director Christian Barthelmes how well she rated the medical care she received, the then 22-year-old answered: „The thing is that in fact no doctor is able to treat people with congenital heart disease. Pediatric cardiologists, who do have the required knowledge, are not allowed to do so as soon as we turn 18. Most of the adult cardiologists, on the other hand, are clueless when it comes to congenital heart disease." Thoughtfully she added: "Now the big question is, who is going to treat us?" With her statement, Ulrike Knopf put her finger on the dilemma of a patient group that is still uncharted territory to medicine.

300.000 Heart-Experts

Ulrike Knopf was born in 1985. She is one of today's 300,000 patients in Germany who live with congenital heart disease. Meanwhile, medical progress has made sure that the majority of children with a congenital heart malformation survive and grow up to be adults, but this was not the case until the seventies. It is true that the patients are often able to lead a more or less normal life. However, their illness requires lifelong medical care.

A Task Force for Better Healthcare

In 2008, the release year of  the movie „Herzspezialisten“, guidelines for diagnostics and treatment of adults with congenital heart disease are published for the very first time. Moreover, starting in 2009, a collective task force including representatives of the cardiac associations, patient organisations and the Competence Network for Congenital Heart Defects initiated the creation of new structures and measures to provide patients transitioning from adolescence to adulthood with essential healthcare.  The research taking place within the scope of the Competence Network for Congenital Heart Defects can be considered as the crucial basis for this achievement.

Collaborating for Medical Progress

Improving the patients' quality of life is the major goal of the Competence Network's scientific work. The key is developing suitable measures for the early detection, prevention and treatment of congenital heart defects, as well as heart disease diagnosed during childhood and adolescence. 

Adequate research for that had to be facilitated in the first place. Congenital heart disease is characterized by a large variety of disease patterns. This means that one single research institution alone will hardly be able to collect sufficient data and samples to yield significant results. This finally incited Prof. Dr.  Peter E. Lange, then head of the department for congenital heart defects and pediatric cardiology at the German Heart Center (Berlin), to set-up a nationwide patient register.

A Sustainable Network Structure

In 2003, the cardiac associations jointly initiated the association National Register for Congenital Heart Defects. The collaborative project included the Deutsche Gesellschaft fuer Paediatrische Kardiologie (DGPK), the Deutsche Gesellschaft für Kardiologie – Herz- und Kreislaufforschung (DGK), the Deutsche Gesellschaft für Thorax-, Herz- und Gefäßchirurgie (DGTHG), the Bundesverband Niedergelassener Kardiologen (BNK), the Arbeitsgemeinschaft Niedergelassener Kinderkardiologen (ANKK) and the Arbeitsgemeinschaft Leitende Kardiologische Krankenhausärzte. The network's patron was Friede Springer.

The National Register facilitated creating a data and sample repository for international research that, in its existing form, is one of a kind. Patient-oriented research yielding reliable, reproducible results requires a close collaboration of doctors, researchers, patients and the industry that is controlled by society. This warrants a sustainable network structure. This is why, in the same year, physicians, scientists and patient associations  applied for funding within the scope of the initiative „Competence Networks in Medicine“ launched by the German Federal Ministry of Education and Research. The funds were intended to be used for setting-up the Competence Network for Congenital Heart Defects with the National Register at its core. And they succeeded.

The World's Biggest Research Platform

Today, the Competence Network is one of the world's biggest research platforms for multicenter studies in the field of congenital heart disease. More than 30 universities, heart centers, research institutes and rehabilitation clinics, as well as numerous pediatric cardiologists and cardiologists in private practice, are actively participating in the research network. Roughly 55,000 patients and relatives of patients have enrolled in the Register voluntarily and commit their data and samples to research. So that research can take place on both a national, as well as an international scale.

Research Distinguished by a Translational Focus

The healthcare research, clinical research, as well as basic research conducted within the scope of the Competence Network for Congenital Heart Defects has yielded new insights that have meanwhile entered clinical practice. Thus they contribute to an improved medical care for the patients. Today, solid medical standards and reliable reference values facilitate the detection and treatment of congenital heart disease and its secondary diseases.

For instance, pulse oximetry screening has been established recently as a measure for the early detection of heart malformations on the initiative of the research network. Research results yielded by a nationwide clinical study of the Competence Network had revealed gaps in prenatal and postnatal diagnostics. The examination has now been part of the mandatory postnatal preventive check-up referred to as U1/U2 since January 2017.

Specialized Care and Grounded Advice

In 2016, healthcare research based on the National Register yielded results proving that patients with a severe pulmonary disease resulting from a heart defect fare better if they receive specific medication according to guidelines in specialized centers. Their quality of life and survival rates were shown to be better than those of patients not receiving specialized treatment.

Also basic research making use of the Register produces pioneering results. An international research team involving cooperation with the Wellcome Trust Sanger Institute in Cambridge for the first time identified genes involved in the development of complex congenital heart defects. The results published in Nature Genetics in September 2016 provide important indications for the treatment and genetic counseling of affected families.

A Joint Effort for the Future

Such research results are possible thanks to national research funding, as well as donations by numerous private sponsors. Likewise, they would not exist without the continuous engagement of multitudinous patients, physicians and scientists on all levels of the research network.

The research network was funded by the German Federal Ministry of Education and Research (BMBF) from 2003 to 2014. Since 2015, the Competence Network has been an associated partner of the German Center for Cardiovascular Research (DZHK) , which is sponsored by federal and national funds. As such, the Competence Network has been mainly funded by this source. Since 2016, the network's sponsors also include the Deutsche Herzstiftung (German Heart Foundation), the Fördergemeinschaft Deutsche Kinderherzzentren (promotion society for German pediatric heart centers) and until 2018 the Friede Springer Herz Stiftung (Friede Springer heart foundation).

Wellbeing in terms of health, quality of life and social participation: these constitute a human right. In order to exercise it, many patients continue to depend on international joint research across institutions that focuses on the causes, as well as the healthcare and long-term wellbeing of named patients.

A Task that Concerns Us All

Research and progress in the field of pediatric cardiology also repeatedly benefit adult medicine. So, for instance, thanks to the development of the catheter-based implantation of heart valves open heart surgery is unnecessary also in many cases of acquired heart disease today.

In the field of basic research, recent insights resulting from genetic and molecular biological studies by the Competence Network provided important evidence regarding future therapeutic approaches; named evidence might be important for both congenital heart disease, as well as acquired heart disease.

Ulrike Knopf is 33 years old today. She has been participating in the National Register for many years. „So that medical progress continues and will also benefit future generations," she stated, referring to a future goal to which the research network has committed itself in the long-term. It is a task that concerns us all.