A heart defect is the most common congenital malformation. Today, major advances in medicine ensure that most affected children survive and reach adulthood. According to estimates, 300,000 adults live with congenital heart defects (ACHD) in Germany alone. There are four million in Europe, and worldwide their number is increasing by well over half with each decade.

Serious Underlying Disease

Kindergarten, school, university, work, starting a family, leisure and sports activities - often, even with a severe congenital heart defect, more is possible than many assume. A congenital heart defect nevertheless remains a serious underlying condition, even after successful surgical or interventional correction. Many patients face secondary diseases and complications throughout their lives that affect more than just the heart.

"Heart failure, cardiac arrhythmias, myocarditis or endocarditis, lung function disorders, but also liver and kidney failure and strokes are among the risks," explains Professor Gerhard-Paul Diller, ACHD specialist at Münster University Hospital (UKM). "In addition, people with congenital heart defects often react differently to age-related diseases or pregnancy than people with healthy hearts. Long-term, specialized aftercare and an interdisciplinary approach are therefore crucial to mitigate risks and intervene preventively." But how well does this work in Germany?

Half of the Patients are Inadequately Cared for

With the support of the National Registry of the Competence Network for Congenital Heart Defects, a team of researchers led by the cardiologist has for the first time investigated both the care situation and the risks of disease and death in adults with congenital heart defects. For the world's largest study of its kind, the scientists, in cooperation with Barmer GEK, were able to access anonymized data from all outpatient and inpatient procedures and diagnoses coded by Barmer GEK between 2005 and 2019.

For a total of 24,139 adults between the ages of 18 and 70 with mild, moderate and severe congenital heart defects recorded by ICD code, this database allowed both medical follow-up and disease progression to be tracked - with alarming results. It is true that most ACHD patients had contact with a family doctor. However, contrary to current guidelines, half of the patients (about 50 percent) were not connected to regular cardiology care during a three-year period.

Family Doctors Refer Too Infrequently

Even in more than one-third (36 percent) of patients with highly complex heart defects, medical care was limited to the family doctor's office. From the scientist's point of view, this is highly problematic: "This suggests that too little use is made of the possibility of referral to a cardiologist. Yet it has long been known from international studies that specialized cardiological care is associated with better survival and a lower rate of serious cardiac and neurological complications," says Gerhard-Paul Diller.

Regular Check-Up with ACHD Cardiologist Lowers Risk of Death

The results of the study confirm this. The cardiologist was often only consulted when serious illnesses occurred. The study showed, especially in patients over 45 and in patients with moderate and severe congenital heart defects, and in particular in women, that regular check-ups by specialists significantly reduce the risk of dying from a complication or secondary disease.

Current guidelines state that all adult patients with congenital heart defects (ACHD) should present to an ACHD cardiologist at least once and that the majority of patients require regular follow-up by appropriately trained cardiologists.

Expanding Structures, Raising Awareness among Physicians and Patients

According to study results from Australia and Canada, specialized facilities and additional training for ACHD cardiologists have long since been established in Germany. At present, about 350 cardiologists and pediatric cardiologists with additional qualifications care for the growing group of patients in 23 national ACHD centers, six specialized ACHD hospitals and nine ACHD specialist practices. The scientists therefore urgently recommend expanding the care structure. In view of the rapidly increasing number of patients, there is also a steadily growing need for accessible, specialized facilities close to home.

At the same time, it is important to make family doctors and patients more aware of the need for early referral to outpatient cardiology services and to promote collaboration in a targeted manner. "Even though cardiological follow-up is particularly crucial for more complex congenital heart defects, family doctors should generally be encouraged to cooperate with ACHD cardiologists to ensure guideline-based treatment," advises Gerhard-Paul Diller.