Continuous Long-Term Assessment of Heart Rate Variability in Adults with Cyanotic Congenital Heart Disease after Surgical Repair.

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.

PATHFINDER-CHD: prospective registry on adults with congenital heart disease, abnormal ventricular function, and/or heart failure as a foundation for establishing rehabilitative, prehabilitative, preventive, and health-promoting measures: rationale, aims, design and methods.

BACKGROUND: Adults with congenital heart defects (ACHD) globally constitute a notably medically underserved patient population. Despite therapeutic advancements, these individuals often confront substantial physical and psychosocial residua or sequelae, requiring specialized, integrative cardiological care throughout their lifespan. Heart failure (HF) is a critical challenge in this population, markedly impacting morbidity and mortality. AIMS: The primary aim of this study is to establish a comprehensive, prospective registry to enhance understanding and management of HF in ACHD. Named PATHFINDER-CHD, this registry aims to establish foundational data for treatment strategies as well as the development of rehabilitative, prehabilitative, preventive, and health-promoting interventions, ultimately aiming to mitigate the elevated morbidity and mortality rates associated with congenital heart defects (CHD). METHODS: This multicenter survey will be conducted across various German university facilities with expertise in ACHD. Data collection will encompass real-world treatment scenarios and clinical trajectories in ACHD with manifest HF or at risk for its development, including those undergoing medical or interventional cardiac therapies, cardiac surgery, inclusive of pacemaker or ICD implantation, resynchronization therapy, assist devices, and those on solid organ transplantation. DESIGN: The study adopts an observational, exploratory design, prospectively gathering data from participating centers, with a focus on patient management and outcomes. The study is non-confirmatory, aiming to accumulate a broad spectrum of data to inform future hypotheses and studies. PROCESSES: Regular follow-ups will be conducted, systematically collecting data during routine clinical visits or hospital admissions, encompassing alterations in therapy or CHD-related complications, with visit schedules tailored to individual clinical needs. ASSESSMENTS: Baseline assessments and regular follow-ups will entail comprehensive assessments of medical history, ongoing treatments, and outcomes, with a focus on HF symptoms, cardiac function, and overall health status. DISCUSSION OF THE DESIGN: The design of the PATHFINDER-CHD Registry is tailored to capture a wide range of data, prioritizing real-world HF management in ACHD. Its prospective nature facilitates longitudinal data acquisition, pivotal for comprehending for disease progression and treatment impacts. CONCLUSION: The PATHFINDER-CHD Registry is poised to offer valuable insights into HF management in ACHD, bridging current knowledge gaps, enhancing patient care, and shaping future research endeavors in this domain.

[Pulmonary arterial hypertension in congenital heart disease - Part I]. / Pulmonale arterielle Hypertonie bei Erwachsenen mit angeborenen Herzfehlern ­ Teil I.

The number of adults with congenital heart disease (CHD) is steadily rising and amounts to approximately 360,000 in Germany. CHD is often associated with pulmonary arterial hypertension (PAH), which may develop early in untreated CHD. Despite timely treatment of CHD, PAH often persists or recurs in older age and is associated with significant morbidity and mortality.The revised European Society of Cardiology/European Respiratory Society 2022 guidelines for the diagnosis and treatment of PH represent a significant contribution to the optimized care of those affected. However, the topic of "adults with congenital heart defects" is addressed only relatively superficially in these guidelines. Therefore, this article addresses the perspective of congenital cardiology in greater depth.

Post-Traumatic Distress in Adults With Congenital Heart Disease: an Under-Recognized Complication?

The stressful and potentially traumatic perception of repeated hospitalization, outpatient check-ups, and medical interventions places a high stress burden on patients with congenital heart disease (CHD). These experiences can lead to post-traumatic stress symptoms (PTSSs). This study aimed to estimate the prevalence of PTSSs in adults with CHD (ACHDs) and to identify the associated risk factors. In this cross-sectional study, 234 ACHDs were recruited from November 2021 to August 2022 at a dedicated tertiary care center. Data were collected on general health, anxiety and depression, PTSSs, and on quality of life using validated and standardized questionnaires. In addition, the reasons for PTSSs were assessed using free-text responses. Overall, 17.1% to 20.5% (mean age: 35.2 ± 10.8 [18 to 66] years, 46.6% women) of the enrolled patients met the criteria for clinically relevant PTSSs related to their CHD or treatment. The associated risk factors (p <0.05) included preexisting mental distress (odds ratio [OR] 4.86), depression (OR 5.565) and anxiety (OR 3.36,), level of perceived mental distress during the traumatic event (OR 1.46), and number of medical procedures (OR 1.17). In addition, a worse clinical state was associated with more PTSSs (p = 0.018). Using free-text responses, the various reasons for PTSSs were identified, ranging from cardiac procedures to social stigma. In conclusion, the high prevalence of PTSSs calls for increased awareness of PTSSs in ACHDs in cardiovascular care. PTSSs and their associated disorder can adversely affect the manifestation and progression of cardiac disease. Thus, it is necessary to reflect upon psychocardiac prevention and intervention as an integral part of multidisciplinary cardiac care.

Psychosocial well-being in postpartum women with congenital heart disease.

Background: Improved treatment options for congenital heart disease (CHD) lead to a growing number of women with CHD at reproductive age. Due to physical and psychological burden, pregnancies in women with CHD often count for high-risk. Resulting emotional distress can adversely impact pregnancy, motherhood and fetal health. The present study aims to retrospectively investigate mental outcomes and indices of adjustment in women with CHD before, during and after pregnancy. The novel concept of illness identity is applied to explain how patients experience and integrate their CHD into their identities. Methods: Patient-reported outcome measures on mental functioning and illness identity were assessed in a sample of 121 postpartum women with CHD [mean age: 42.7±9.2 (range, 27-81) years] at the German Heart Centre Munich between August and November 2021 in a cross-sectional design. Descriptive analyses, correlations and linear regression models were calculated. Results: Retrospectively assessed prevalence of emotional distress before giving birth was high (47.0%) and peaked shortly after childbirth in terms of elevated symptoms of postpartum depression and trauma. During the course of maternity, emotional distress decreased significantly (24.1%, P<0.001). Overall, postpartum women demonstrated high scores in functional illness identity states (i.e., acceptance and enrichment) and low scores in dysfunctional states (i.e., rejection and engulfment). CHD severity was not directly associated with mental outcomes (P>0.05), whereas maternal cardiovascular risk, according to the WHO classification, was significantly associated with a higher prevalence of postpartum trauma (t=2.485, P=0.015). Conclusions: Postpartum mental health problems, such as (postpartum) depression, anxiety, and posttraumatic stress can become a serious burden which might be detrimental to the mother's well-being and her infant's development. Present findings emphasise the urgent need for a holistic approach focusing on pregnant women with CHD starting at the prepartum stage to prevent adverse consequences and promote maternal well-being. Illness identity might become an important target construct for clinical practice as it may positively and enduringly influence mental well-being of pregnant women with CHD.

Quality of life in patients with Fabry's disease: a cross-sectional study of 86 adults.

Background: Fabry disease (FD) is a multi-organ disorder associated with severe physical and psychological impairments, particularly in adulthood. To date, comprehensive data on the psychological burden of FD are lacking. The present study assessed quality of life (QOL) in a representative cohort of adults with FD. Methods: Patient-reported outcome measures were retrospectively analyzed in 86 adults with FD (49.6±16.6 years; 62.8% female) and compared to adults with congenital heart defects (ACHD) which is another lifelong disease and affliction. QOL was assessed using the European Quality of Life 5 Dimensions 5 Levels questionnaire (EQ-5D-5L). Results: Subjects affected by FD reported an overall reduced QOL (EQ-VAS: 71.8±20.0). Most frequently reported complaints occurred within the dimensions pain/discomfort (69.7%), daily activities (48.9%) and anxiety/depression (45.4%). Compared to ACHD, individuals with FD scored significantly lower in the areas of pain/discomfort, usual activities and mobility (all P<0.05). Older age and female sex were particularly associated with diminished QOL (P=0.05). Conclusions: Patients with FD are at high risk for impaired QOL. They require additional support to cope with disease-related challenges. Increased attention should be directed towards improving their subjective well-being to potentially increase their QOL and long-term health outcomes.

Quality of life in adults with congenital heart disease with and without pulmonary hypertension: a comparative study.

Background: Pulmonary vascular disease and pulmonary hypertension (PH) belong to the most relevant complications of congenital heart disease (CHD) in the long-term course. Although PH might lead to a severely impaired quality of life (QOL), there are no current studies comparing QOL in adults with CHD (ACHD) with and without PH. Therefore, this study aimed to systematically examine QOL in ACHD with and without PH in order to generate a more differentiated understanding of their overall health-status and to employ newly gained findings into general care of this particular patient population. Methods: In this comparative cross-sectional study, a representative sample of 803 adults with various forms of CHD with or without PH was analyzed. Data collection took place between September 2017 until February 2018 in a tertiary care center for ACHD. Medical data was retrieved from medical records. QOL was assessed using the EQ-5D-5L questionnaire. Descriptive methods, chi-square and t-tests were used to compare QOL of patients with and without PH. Results: Of 803 patients, 752 patients had no PH [93.6%; 47.3% female; mean age: 34.9±11.83 (range, 18-86) years], 51 were identified with manifest PH [6.4%; 55.8% female; mean age: 41.9±12.17 (range, 21-69) years]. PH patients showed significantly worse overall QOL [mean no PH: 86.78±13.30 (8.2-100) vs. mean PH: 81.79±12.77 (43.6-100); 95% confidence interval (CI): 1.43 to 9.46; P=0.013], worse crosswalk index [mean no PH: 93.29±12.86 (-11, 100) vs. mean PH: 89.73±11.77 (47-100); 95% CI: 0.08 to 7.56; P=0.043], and worse VAS [mean no PH: 80.12±16.50 (15-100) vs. mean PH: 72.56±16.80 (40-100); 95% CI: 3.29 to 12.17; P=0.004]. However, after adjusting for age, only the VAS stayed significant (P=0.039). The QOL within the dimensions mobility (P<0.001), self-care (P=0.002), and usual activities (P=0.007), were significantly decreased in PH patients. Overall, anxiety and depression (11.08%) as well as pain and discomfort (11.03%) were the most impaired dimensions in both patient groups. Conclusions: Since QOL is a significant predictor of outcome, PH-CHD patients need an early provision of psychosocial, health promoting support in addition to dedicated care and targeted PH treatment. It is therefore pivotal to timely identify unique psychosocial impairments in order to enhance quantity and QOL in this particularly vulnerable patient population.

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome.

Background: Aortic aneurysm and aortic dissection can have a major impact on the life expectancy of Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS) patients. Although obesity can influence the development of aortic complications, evidence on whether obesity influences the development of aortic aneurysm or dissection in MFS and LDS is limited. The aim of the present study was to elucidate the relationship between aortic size and body composition, assessed by modern bioelectrical impedance analysis (BIA) in MFS/LDS-patients. Methods: In this exploratory cross-sectional study in MFS or LDS patients, enrolled between June 2020 and May 2022, 34 patients received modern BIA and magnetic resonance imaging (MRI) (n=32) or computed tomography (CT) imaging (n=2) of the entire aorta. A P value of <0.05 was considered significant. Results: Fifty-one patients (66% female; mean age: 37.7±11.7; range, 17-68 years) with MFS or LDS were enrolled; 34 patients, 27 with MFS and 7 with LDS, underwent aortic MRI or CT scanning. The mean aortic length was 503.7±58.7 mm, and the mean thoracic aortic length and abdominal aortic length were 351.5±52.4 and 152.2±27.4 mm, respectively. The aortic bulb and the ascending aorta were measured only in the non-surgically repaired patients. Fifteen MFS (88.2%) and two LDS (40.0%) patients had an aortic aneurysm. In these, the aortic bulb tended to be larger in MFS than in LDS patients [42.6×41.9×41.2 vs. 37.8×37.4×36.8 mm; P=0.07 (-1.1; 9.1); P=0.07 (-1.2; 8.4); P=0.07 (-1.5; 7.9)]. BIA revealed mean body fat levels of 31.6%±8.7% (range, 9.5-53.5%), indicating that 18 patients (52.9%) were obese. There was a significant correlation between body fat content and thoracic aortic length (R=-0.377; P=0.02), muscle mass and total aortic length (R=0.359; P=0.03), thoracic aortic length (R=0.399; P=0.02), extracellular mass (ECM), and total aortic length (R=0.354; P=0.04), and connective tissue and aortic diameters at the aortic arch (R=0.511; P=0.002), aortic isthmus (R=0.565; P<0.001), and abdominal aorta (R=0.486; P=0.004). Older age was correlated with wider aortic arch, isthmus, and abdominal aorta. Male patients had a longer aorta. Conclusions: While a slender habitus is commonly known for MFS and LDS patients, our data show that many MFS and LDS patients (especially female) do not fit this phenotypic characteristic and are obese, which is associated with a more severe aortic phenotype. This topic should be included in the clinical assessment of affected MFS and LDS patients, in addition to measurement of the aortic diameters. Physicians should systematically screen MFS and LDS patients for obesity, educate them about the potential risk of resulting aortic complications, and encourage them to adopt a healthy lifestyle, that includes (mild) exercise and a balanced diet.

Healthcare status of adults with pulmonary hypertension due to congenital heart disease.

Background: In the long-term course of treated and untreated congenital heart defects (CHD), pulmonary hypertension (PH) is one of the most relevant complications. Since PH carries a high risk for mortality and morbidity, it is important to improve the status of healthcare and medical knowledge regarding the affected patients. Therefore, this study aimed to determine the current medical care status, health-related knowledge, and specific counseling needs of adults with various forms of CHD (ACHD) who are at increased risk of developing PH, as well as those with manifest PH. Methods: In this retrospective cross-sectional study, a representative sample of 803 ACHD were analyzed. Patients were split into three groups based on CHD: low risk for PH, at risk for pre- or post-capillary PH, and manifest PH. Data collection took place between September 2017 until February 2018 in a tertiary care center for ACHD. Healthcare status and specific needs for information or advice were analyzed using a questionnaire designed by our group. The state of knowledge of the patients was assessed by comparing this questionnaire and the corresponding medical records. Results: Both patients with manifest PH (n=51) and patients at risk to develop PH (n=629) were insufficiently informed about their health status, specific care structures available to them, and patient organizations. About 50% of the patients had specific counseling needs, especially regarding physical capability and sports, daily stress, rehabilitation measures, and pregnancy. Only 47.8% of patients with manifest PH were aware of suffering from PH (P<0.001). In particular, the patients had large knowledge deficits regarding comorbidities related to their health condition. Conclusions: PH is a quantitatively and qualitatively underestimated residuum or sequela of CHD that significantly affects outcome and prognosis in ACHD. Multidisciplinary, structured, and specific counseling of affected individuals with corresponding risk constellations is urgently needed. A prerequisite for this is closer collaboration between primary care physicians (PCPs), such as general practitioners, family physicians, internists, or general cardiologists, and ACHD specialists. Targeted patient counseling and care could have a positive impact on the level of awareness of those affected and favorably influence their prognosis.