Background: Due to the increase in survival rates for congenital heart disease (CHD) in the last decades, over 90% of patients today reach adulthood. Currently, there are more than 300,000 adults with CHD (ACHD) living in Germany. They have an increased need for specialized medical care, since almost all ACHD have chronic heart disease and suffer from specific chronic symptoms, risks, and sequelae. Primary care physicians (PCPs) play a crucial role in referring patients to ACHD specialists or specialized institutions. This cross-sectional study is intended to clarify the real-world care of ACHD from the PCP’s perspective. Methods: This analysis, initiated by the German Heart Centre Munich, was based on a 27-item questionnaire on actual ACHD health care practice in Germany from the PCP’s perspective. Results: In total, 767 questionnaires were considered valid for inclusion. The majority of the PCPs were general practitioners (95.9%), and 84.1% had cared for ACHD during the past year. A majority (69.2%) of the PCPs had cared for patients with simple CHD, while 50.6% and 33.4% had cared for patients with moderate and severe CHD, respectively, in all age groups. PCPs treated almost all typical residual symptoms and sequelae, and advised patients regarding difficult questions, including exercise capacity, pregnancy, genetics, and insurance matters. However, 33.8% of the PCPs did not even know about the existence of certified ACHD specialists or centers. Only 23.9% involved an ACHD-specialized physician in their treatment. In cases of severe cardiac issues, 70.8% of the PCPs referred patients to ACHD-certified centers. Although 52.5% of the PCPs were not sufficiently informed about existing structures, 64.2% rated the current care situation as either “very good” or “good”. Only 26.3% (n = 190) of the responding physicians were aware of patient organizations for ACHD. Conclusions: The present study showed that the majority of PCPs are not informed about the ACHD care structures available in Germany. The need for specialized ACHD follow-up care is largely underestimated, with an urgent need for optimization to reduce morbidity and mortality. For the future, solutions must be developed to integrate PCPs more intensively into the ACHD care network.

Background: Due to advances in the diagnosis and treatment of congenital heart disease (CHD), the number of adults who are surviving with congenital heart disease (ACHD) is constantly growing. Until recently, the psychological effects of CHD had been widely neglected. Current research provides evidence for an increased risk of emotional distress in ACHD. The concept of illness identity attempts to explain how patients experience and integrate their CHD into their identities. The present study investigated illness identity in relation to clinical parameters and psychological functioning. Psychometric properties of the German version of the Illness Identity Questionnaire (IIQD) were examined. Methods: Self-reported measures on illness identity and psychological functioning (HADS-D) were assessed in a representative sample of 229 ACHD (38 ± 12.5 (18−73) years; 45% female) at the German Heart Center Munich. Descriptive analyses and multiple regression models were conducted. Confirmatory factor analysis was performed to validate the IIQD. Results: The IIQD demonstrated good reliability. The originally-postulated four-factor structure could not be replicated. Anatomic disease complexity and functional status significantly influenced illness identity. Illness identity accounted for unique variances in depression and anxiety: Maladaptive illness identity states (i.e., , engulfment and rejection) were associated with higher emotional distress, whereas adaptive illness (i.e., , acceptance and enrichment) identity states were linked to lower emotional distress. Conclusions: Illness Identity emerged as a predictor of emotional distress in ACHD. Findings raise the possibility that interventions designed to target a patient’s illness identity may improve psychological well-being and cardiac outcomes in ACHD.

Lessons from the short- and mid-term outcome of medical rehabilitation in adults with congenital heart disease Sebastian Freilinger, Dario Andric, Caroline Andonian, Jürgen Beckmann, Christa Bongarth, Hans Peter Einwang, Peter Ewert, Michael Hofbeck, Ann-Sophie Kaemmerer, Nicole Nagdyman, Renate Oberhoffer, Yskert von Kodolitsch, Harald Kaemmerer, Rhoia Neidenbach

`Background: All patients with congenital heart disease (CHD) are chronically ill from their cardiac disease. Despite the increasing evidence that aortic alterations are becoming relevant, the importance of aortopathy in CHD has long been underestimated. This study was conducted to determine the health status of patients and/or the provision of health services of adults with CHD (ACHD) with manifest aortopathy or at risk thereof. Methods: In a questionnaire-based cross-sectional survey, the "real life"-care of ACHD was analysed, comparing patients with risk of developing aortopathy and/or manifest aortopathy. Results: Of the 563 enrolled ACHD (49.6% female, mean age 35.8 +/- 12.1, 18-86 years) 56.8% (n=320) had a risk of developing aortopathy and/or manifest aortopathy. Of the 320 patients at risk, 187 (33.2% of the total number) had a proven aortopathy. Within this subgroup, the basic medical care for CHD-independent medical problems was given by primary medical care providers [family doctors/general practitioners (GP) in 89.4% (n=286), internists in 13.4% (n=43), physicians of another specialty in 2.5% (n=8)]. Almost all primary medical care providers knew about the CHD of their patients. Even for CHD-specific health problems, the basic medical care of risk patients was provided by a family doctor or GP in 56.6% (n=181) and by an internist in 18.4% (n=59). 30.0% (n=96) primarily consulted another specialist, including cardiologists. Only 32.8% of ACHD at risk had ever been referred to a CHD specialist by a GP for cardiac problems related to their CHD. In contrast, the need for advice was high for ACHD with aortopathy and related mainly to physical activity, employment and education, pregnancy, rehabilitation or health and life insurance. Only 35.5% of patients at risk indicated that their information on specific care structures for ACHD was sufficient, and a further 38.1% of patients were aware of patient organizations. Conclusions: Even today, aortic involvement in ACHD is an often-overlooked condition, although considerable negative effects on morbidity and mortality exist. As aortopathy gains in importance with increasing age and complexity of CHD, almost all affected ACHD need lifelong medical advice and access to modern, scientifically based care concepts. According to the study-results, primary care providers and also patients are mostly insufficiently informed about the specialized ACHD facilities. The future goal is therefore to create a better awareness of CHD problems among both primary care physicians and the patients concerned.

Background: Heart rate variability (HRV) is an established, non-invasive parameter for the assessment of cardiac autonomic nervous activity and the health status in general cardiology. However, there are few studies on HRV in adults with congenital heart defects (CHDs). The aim of the present study was to evaluate the use of long-term continuous HRV measurement for the assessment of global health status in adults with cyanotic CHD. Methods: This prospective study included 45 adults (40% female, mean age = 35.2 ± 9.2 [range: 19–58] years) after cardiac surgical repair. HRV parameters were calculated from continuous 24 h measurements using a Bittium Faros 180 sensor (Bittium Corp., Oulu, Finland). Results: Postoperative patients with transposition of the great arteries (TGA) (n = 18) achieved significantly higher values of standard deviation of NN intervals (SDNN) (175.4 ± 59.9 ms vs. 133.5 ± 40.6 ms; p = 0.013) compared with patients with other conotruncal anomalies (n = 22). Comparing patients with TGA after a Senning–Brom or Mustard operation (n = 13) with all other heart surgery patients (n = 32), significantly higher HRV parameters were found after atrial switch (root mean square of successive RR interval differences: 53.6 ± 20.7 ms vs. 38.4 ± 18.3 ms; p = 0.019; SDNN: 183.5 ± 58.4 ms vs. 136.3 ± 45.3 ms; p = 0.006). A higher SDNN was also measured after Senning–Brom or Mustard operations than after a Rastelli operations (n = 2) (SDNN: 183.5 ± 58.4 ms vs. 84.5 ± 5.2 ms; p = 0.037). When comparing atrial switch operations (n = 3) with Rastelli operations, the SDNN value was significantly shorter in the Rastelli group (p = 0.004). Conclusions: Our results suggest that continuous HRV monitoring may serve as a marker of cardiac autonomic dysfunction in adults with cyanotic CHD after surgical repair. Impaired cardiac autonomic nervous activity may be associated with an increased risk of adverse reactions in patients with repaired CHD. Therefore, a longitudinal assessment of HRV patterns and trends may provide a deeper insight into dynamic changes in their autonomic regulation and disease progression, lifestyle changes, or treatments. As each person has individual variability in heart rate, HRV may be useful in assessing intra-individual disease progression and may help to improve personalized medicine. Further studies are needed to better understand the underlying mechanisms and to explore the full potential of HRV analysis to optimize medical care for ACHDs.

Background: It is clinically widely overlooked that many patients with Marfan- (MFS) or Loeys-Dietz-Syndrome (LDS) are obese. While anthropometric routine parameters are not very suitable, the modern Bioelectrical Impedance Analysis (BIA) seems superior for the acquisition of reliable noninvasive assessment of body composition of patients. The aim of the study was to assess the body composition of patients with MFS/LDS by BIA in order to detect occult obesity, which may be a risk marker for aortic or vascular complications. Methods: In this exploratory cross-sectional study, 50 patients (66% female; mean age: 37.7 ± 11.7 [range: 17–64] years) with a molecular genetic (n = 45; 90%) or clinical (n = 5; 10%) proven diagnosis of MFS or LDS were enrolled between June 2020 and February 2022. All BIA-measurements were performed with the Multifrequence-Impedance-Analyzer Nutriguard-MS (Data Input, Poecking, Germany). Results: The MFS/LDS collective was significantly different from an age-, sex-, and BMI-adjusted control in terms of body fat, percent cellularity, body cell mass, extra cellular mass/body cell mass index, and phase angle (all p < 0.05). The mean BIA-measured bodyfat was 31.7 ± 8.7% [range: 9.5–53.5%], while the mean calculated BMI of the included patients was 23.0 ± 4.8 kg/m2 [range: 15.2–41.9 kg/m2]. Therefore, using the obesity cut-off values for the body fat percentage of 25% in men and 35% in women, the BIA classifies as many as 28 patients (56.0%) as obese. In contrast only 12 patients (24.0%) were pre-obese, respectively 3 (6.0%) obese by BMI. The significant difference (p < 0.001) had an accordance of 42.7%. Overall, 15 patients (13 MFS; 2 LDS) had previous aortic surgery (n = 14) and/or interventional treatment (n = 2) for aortic complications (aneurysm, aortic dissection). 11 out of these 15 (73.3%) were currently classified as obese by BIA. Conclusions: The fact that many patients with MFS or LDS are obese is widely unknown, although obesity may be associated with impaired vascular endothelial function and an increased risk of cardiovascular complications. Also, in patients with MFS/LDS, BIA allows a reliable assessment of the body composition beyond the normal anthropometric parameters, such as BMI. In the future, BIA-data possibly may be of particular importance for the assessment of the vascular risk of MFS/LDS patients, besides the aortic diameters.