Authors

• Mirta Koželj — University Medical Centre Ljubljana, Ljubljana, Slovenia — ORCID: 0000-0002-3932-7735
• Katja Prokšelj — University Medical Centre Ljubljana, Ljubljana, Slovenia — ORCID: 0000-0003-1301-632X
• Jure Dolenc — University Medical Centre Ljubljana, Ljubljana, Slovenia
• Andraž Cerar — University Medical Centre Ljubljana, Ljubljana, Slovenia
• Tomaž Podnar — University Medical Centre Ljubljana, Ljubljana, Slovenia

Abstract

The management of 1623 adult patients with congenital heart disease in a 16-year follow-up period at the University Medical Centre Ljubljana is described herein. The mean patient age at the time of admission was 32±14.8 years (mean ± standard deviation; SD). The distribution of congenital heart disease, treatment, and mortality is presented. During the observation period, the mortality rate was 3.82%. The spectrum of congenital heart disease and the mortality rate in Slovenia correspond with data from the European Heart Survey. Care of pregnant women with heart disease is carried out by the same team of specialists as is care of patients with congenital heart disease.

Keywords

congenital heart disease, adults

DOI

Full Text

## Introduction Congenital heart disease (CHD) is the most common inborn defect and occurs in approximately 0.8% of neonates. Major advances in pediatric heart surgery and pediatric interventional cardiology made in recent decades have resulted in a marked increase in the number of patients with congenital heart disease who survive into adulthood. We are therefore now faced with a new population of adults who live with congenital heart disease. Despite this, a significant period of time and effort passed before adult congenital heart disease (ACHD) was recognized as a new field of cardiology. In Europe, it is currently estimated that a population of approximately 2.3 million adults live with CHD, which is significantly greater than the pediatric CHD population of about 1.9 million. What is more, these numbers are expected to rise. There are now more adults than children with CHD in Europe (1). Given these numbers, it must be recognized that there is a need for a special field of cardiology for ACHD. Cardiologists who specialize in adult patients have in fact become increasingly unfamiliar with CHD. The main focus in cardiology today is on coronary artery disease, heart failure, and arrhythmias. At the same time, pediatric cardiology does not adequately cover the needs of adults who live with CHD. The great diversity in CHD results in various types of clinical problems arising not only in children, but also in adults. Diseases that develop at an advanced age, such as arterial hypertension and coronary artery disease, have a significant impact on the natural history of CHD and its deterioration. Therefore, ACHD patients require special integrated care, while also taking into account other medical conditions such as pregnancy, non-cardiac surgery, etc. The spectrum of CHD and late complications are now also changing due to the development of improved surgical techniques. It is therefore clear that cardiologists who are specially trained in CHD and aware of all these special issues are needed for the effective management of ACHD patients. Furthermore, special centers for ACHD are also required. The care of patients with ACHD should be coordinated by regional or national ACHD centers. Approximately one such center should be created to serve a population of 5 to 10 million people (2). The most important activities of specialized centers are: initial assessment of suspected or already detected CDH, the follow-up and continuing care of patients with moderate and severe complex lesions, further surgical and percutaneous interventions, risk assessment and support for noncardiac surgery, pregnancy, and training and research activities. ## The organization of care for adult congenital heart disease in Slovenia Since 1998, patients with ACHD have been systematically managed at the University Medical Centre Ljubljana (UMC), which is the only specialized center for ACHD in Slovenia. Slovenia has 2 million inhabitants. The estimated prevalence of ACHD in Europe is approximately 1500 patients/1 million inhabitants, so the expected number of patients with ACHD in Slovenia is 3000. The birth rate in Slovenia is 20 000 newborns per year. If taking into consideration that there is a near 1% incidence in CHD and a survival rate of approximately 90%, then it follows that there are about 180 new CHD patients in Slovenia each year. Our ACHD team works hand in hand with four cardiologists, two pediatricians, one cardiovascular surgeon, and one radiologist. If necessary, we also work with obstetricians and geneticists. As a result of this organization and cooperative work, we have seen great benefits in treatment results. UMC Ljubljana is the only specialized center for ACHD in Slovenia that is equipped with all required facilities: adult and pediatric cardiology, non-invasive and invasive cardiology, intervention cardiology, electrophysiology, and an outpatient clinic. Routine surgical procedures are performed independently, but we depend on a visiting foreign surgeon who is specialized in CHD for more complex procedures. The center for ACHD has also organized special care for the treatment of pregnant women with heart disease, in cooperation with obstetricians and geneticists. Transfer to adult care is carried out during a period of medical stability at the age of 18. Continuous consultation with the referring pediatric cardiologist is possible and even desirable after the transfer. The number of patients lost to follow-up is very low in Slovenia because all pediatric patients with CHD are treated at the Department of Paediatrics, UMC Ljubljana, and are directly transferred to the Department of Cardiology in Ljubljana. ## Results Over a period of 16 years between 1998 and 2014, 1623 adult patients with CHD were admitted. Of these, 921 patients were women (56.7%). The mean age at the time of admission was 32±14.8 (mean ± standard deviation; SD) years. The youngest patient was 16 years old, the oldest two patients were 80 years old – one man with an unoperated atrial septal defect and one woman with restrictive ventricular septal defect. **Figure 1** displays the number of patients who visited our outpatient clinic. Only first referrals are included, follow-up visits are not. The number of patients rose gradually, with there now being an average number of 95 new patients per year. Of these 1623 patients, 446 (27.4%) were diagnosed in adulthood. The percentage of patients diagnosed late in adulthood remained constant throughout the observation period. Figure 1. The number of patients who visited the outpatient clinic. Only first referrals are included. The trend line is in red. As expected, the majority of patients came to the outpatient clinic before the age of 30. Only one third of the patients who came to the outpatient clinic were over the age of 30 at the time of their first visit. It is especially interesting that very few patients in the younger group were first diagnosed in adulthood (9.5%). However, in the group of patients over the age of 30, the situation is completely different – the percentage of patients who first had their CHD diagnosed in adulthood rose dramatically (63.7%) (**Figure 2**). These results indicate good quality pediatric cardiologic care in Slovenia over the last 30 years. Figure 2. The age range of patients registered at our center; patients diagnosed in childhood (blue bars) and patients first diagnosed in adulthood (yellow bars). In the acyanotic group, atrial septal defect (ASD) was the most common cardiac malformation (31.8%). Atrial septal defect was also the abnormality most often detected in adulthood. These results are not surprising and they correspond to the results of the European Heart Survey on CHD (3). As expected, the most common abnormality in the cyanotic group is tetralogy of Fallot. It was disappointing that there were still 45 patients with Eisenmenger syndrome in our group. Very few patients were diagnosed late in adulthood (**Figure 3**). Figure 3. Types of congenital heart disease; patients diagnosed in childhood (blue bars) and patients first diagnosed in adulthood (yellow bars). ASD = atrial septal defect, VSD = ventricular septal defect, AV = atrioventricular, LVOT = left ventricular outflow tract, PDA = patent ductus arteriosus, CoAo = aortic coartation, RVOT = right ventricular outflow tract, CCTGA = congenitally corrected transposition of great arteries, TGA = tetralogy of Fallot. Overall, 600 patients underwent surgical corrections in childhood and 141 patients were operated in adulthood. 769 patients had never been operated, either because there was no need or because they refused the operation. 111 patients were treated percutaneously (atrial septal defect secundum, patent ductus arteriosus, coarctation of aorta). Three patients received transplantations: one heart and lung transplantation (a patient with pulmonary atresia) and two heart transplantations (heart failure after tetralogy of Fallot and Ebstein’s anomaly). A total of 62 patients (3.8%) died during the 16-year study period (2.3 patients per 1000 per year). The mean age at the time of death was 48.4±17.1 years (range: 20-83). The data are in agreement with the findings of the European Heart Survey on ACHD, where the mortality rate was 2.8% at 5-year follow-up (3). At the 8-year follow-up of the CONCOR Dutch Registry for ACHD, the mortality rate was also 2.8% and the mean age at the time of death was 48.8 (range: 20.3-91.2) (4). Surprisingly, the most common diagnosis in our group was ASD (10 patients), followed by Eisenmenger syndrome (9 patients) and complex cyanotic anomalies (9 patients) (**Figure 4**). The mean age at the time of death in the patients with ASD was 68.4±3.5 years. All but one of these patients were diagnosed in adulthood. None had ever been surgically treated and the majority died of congestive heart failure. One death was related to pregnancy with Eisenmenger syndrome. Figure 4. Mortality by main diagnosis. ASD = atrial septal defect, TOF = tetralogy of Fallot, compl.cyan. = complex cyanotic congenital heart disease, CoA = aortic coarctation, CMP = familiar cardiomyopathy. ## Care for pregnant women with heart disease Care of pregnant women a part of the treatment of patients with ACHD because the majority of women with heart disease have congenital heart disease. Over a period of 7 years between 2007 and 2014, 187 pregnant women with heart disease were treated. These patients were mainly from the Ljubljana region, but patients with more complex lesions also came to our center from other parts of Slovenia and also give birth in Ljubljana. An integrated team of ACHD cardiologists, obstetricians, and anesthetists treated of these patients. Only two patients out of 187 developed heart failure during pregnancy (both had cardiomyopathy). The percentage of caesarean sections was 45.3%. There were no emergency caesarean sections for cardiac-related reasons in our group. This indicates good preparation for delivery. There was no maternal mortality during pregnancy and in the follow-up period. The frequency of miscarriage (3.9%) and fetal mortality (0.8%) were in accordance with the results of the Registry on Pregnancy and Cardiac Disease (ROPAC) for developed countries (5). ## Conclusions In Slovenia, we managed to organize care for patients with ACHD according to European recommendations. The 16-year follow-up of adult patients with CHD reflected the relative frequency of CHD in Slovenia. The spectrum of ACHD and the treatment was in agreement with European Heart Survey data. The mortality rate of patients with ACHD was within anticipated limits and emphasized the importance of specialized care for adults with CHD. Treatment of pregnant women with heart disease was included in the management of ACHD under the surveillance of the same team of specialists, also including obstetricians.

Literature

1. Kahr PC, Diller GP. Almanac 2014: Congenital Heart Disease. Cardiol Croat. 2015;10(1-2):11–22. https://doi.org/10.15836/ccar.2015.11
2. Baumgartner H, Bonhoeffer P, De Groot NM, de Haan F, Deanfield JE, Galie N, et al. Association for European Paediatric Cardiology (AEPC); ESC Committee for Practice Guidelines (CPG). ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J. 2010;31:2915–57. https://doi.org/10.1093/eurheartj/ehq249
3. Engelfriet P, Boersma E, Oechslin E, Tijssen J, Gatzoulis MA, Thilén U, et al. The spectrum of adult congenital heart disease in Europe: Morbidity and mortality in a 5 year follow-up period. The Euro Heart Survey on adult congenital heart disease. Eur Heart J. 2005;26:2325–33. https://doi.org/10.1093/eurheartj/ehi396
4. Verheugt CL, Uiterwaai C, van der Velde ET, Meijboom FJ, Pieper PG, van Dijk AP, et al. Mortality in adult congenital heart disease. Eur Heart J. 2010;31:1220–9. https://doi.org/10.1093/eurheartj/ehq032
5. Krieger EV, Stout KK. Progress: The ROPAC multinational registry advances our understanding of an important outcome in pregnant women with heart disease. Heart. 2014;100(3):188–9. https://doi.org/10.1136/heartjnl-2013-304986