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Patient-reported outcome measures (PROMs) are a valuable metric for assessing the quality of life and overall well-being in patients with ventricular arrhythmias (VAs) and/or implantable cardioverter-defibrillators (ICDs). The incorporation of PROMs into the workflow of a VA clinic not only allows for more patient-centered care but also may improve detection and treatment of clinically relevant anxiety or depression symptoms. Awareness of the factors known to correlate with adverse PROM scores may guide PROM administration and subsequent referral to mental health services. Further, change or stability in PROM scores can be used as a gauge to guide the effectiveness of cardiac and psychological treatment in certain populations that are the focus of this manuscript: patients with ICDs (with and without shocks), cardiac arrest survivors, and those with inherited arrhythmia syndromes.

Background: Patients with adult congenital heart disease (ACHD) have many risk factors for chronic pain such as prior cardiac interventions and adult comorbidities. However, the prevalence of chronic pain has not been well described in this population. We sought to determine the prevalence of pain in a large international cohort of patients with ACHD. Methods: Data from the APPROACH-IS dataset was utilized for this study which includes 4028 patients with ACHD from 15 different countries. The prevalence of pain was assessed under the health status patient reported outcome domain utilizing the EuroQol-5D 3 level version tool. Multivariable logistic regression was used to assess differences across countries in pain, taking into account country-level random effects for clustering across observations within each country. Results: A total of 3832 patients with ACHD met the study criteria, median age 32 years [IQR 25, 42], 52.6% females. The prevalence of at least moderate pain was reported by 28.9% (95% CO 27.5 ​= ​30.3%) of participants. Pain was associated with country of origin, age, gender, background, education and marital status as well as several clinical variables including disease complexity, cardiac device presence, history of heart failure, psychiatric conditions and presence of other medical conditions. Those with pain had lower levels of perceived health and a lower quality of life score. Conclusion: Pain in patients with ACHD is common, impacting nearly one-third of patients. Given the far reaching implications of pain in patients with ACHD, further study of pain characteristics and treatment management appear warranted.

Background: Adverse childhood experiences (ACEs) are associated with poorer health outcomes, including a higher risk of acquired cardiovascular disease. This was the first investigation of ACEs in adults with congenital heart disease (CHD). Methods: Adults with CHD completed the following surveys in the outpatient setting: ACE questionnaire, measure of attachment style, and linear analogue measure of quality of life. We performed Chi-square tests and t-tests to explore relationships between ACE scores with other surveys as well as demographic and clinical characteristics. Results: A total of 100 patients participated in the study (age 40 ​± ​13 years; 60% female); 90% had CHD of moderate or great complexity. The total number of reported ACEs ranged from 0 to 9 out of a possible total of 10, with a mean of 2.6 ​± ​2.5.30% of participants reported ≥ 4 ACEs, which is higher than the reported prevalence in the general population. The most frequently reported ACEs were parental divorce (46%), emotional abuse (42%), and parental substance abuse (32%). ACE scores did not differ as a function of age, sex or CHD defect complexity. Total ACE scores were significantly associated with two attachment styles (preoccupied: p ​

Background: Physical activity is important to maintain and promote health. This is of particular interest in patients with congenital heart disease (CHD) where acquired heart disease should be prevented. The World Health Organization (WHO) recommends a minimum of 2.5 h/week of physical activity exceeding 3 metabolic equivalents (METS) to achieve positive health effects. It is unknown whether physical activity levels (PAL) in adult CHD patients differ by country of origin. Methods: 3896 adults with CHD recruited from 15 countries over 5 continents completed self-reported instruments, including the Health Behaviour Scale (HBS-CHD), within the APPROACH-IS project. For each patient, we calculated whether WHO recommendations were achieved or not. Associated factors were investigated using Generalized Linear Mixed Models. Results: On average, 31% reached the WHO recommendations but with a great variation between geographical areas (India: 10%–Norway: 53%). Predictors for physical activity level in line with the WHO recommendations, with country of residence as random effect, were male sex (OR 1.78, 95%CI 1.52–2.08), NYHA-class I (OR 3.10, 95%CI 1.71–5.62) and less complex disease (OR 1.46, 95%CI 1.16–1.83). In contrast, older age (OR 0.97, 95%CI 0.96–0.98), lower educational level (OR 0.41, 95%CI 0.26–0.64) and being unemployed (OR 0.57, 95%CI 0.42–0.77) were negatively associated with reaching WHO recommendations. Conclusions: A significant proportion of patients with CHD did not reach the WHO physical activity recommendations. There was a large variation in physical activity level by country of origin. Based on identified predictors, vulnerable patients may be identified and offered specific behavioral interventions. Keywords: Adult congenital heart disease, Physical activity level, Patient-reported outcome, Health-behaviour scale, Physical activity recommendation, Metabolic equivalent

Patient-reported outcomes (PROs) are “any outcome based on data provided by patients or patient proxy as opposed to data provided from other sources”. Together with clinician-reported, physiological, and caregiver-reported outcomes, PROs are important sources of data to assess health and well-being. Examples of PROs include quality of life, psychosocial well-being, functional status, symptoms, health behaviours, and adherence to treatment. PRO research requires specific methodologies, for which dedicated expertise is needed. In congenital heart disease (CHD), PRO research has received increasing attention over the past decade. This paper summarizes knowledge advancements achieved by the ‘Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study’ (APPROACH-IS). This was an international project conducted in 15 countries situated on 5 continents, and enrolled more than 4000 patients. Using a uniform research methodology, a broad set of correlates of PROs in CHD was investigated, both at the individual and contextual level. APPROACH-IS confirmed intercountry variation in PROs. Furthermore, several country-level characteristics were associated with PROs in CHD, although they explained little of the variance. Indeed, most of the variance in PROs was explained by individual medical, demographic, behavioural, psychological, and social factors. Although much has been learned about PROs in CHD as a result of APPROACH-IS, this project also generated new questions. The assessment of PROs must thus remain a research priority.

Within the congenital heart disease (CHD) community, the definition of successful outcomes extends beyond morbidity and mortality and includes living as independent and full lives as possible. This includes considerations pertaining to education and employment, which are associated with quality of life and other patient-reported outcomes. As a group, individuals with CHD are more likely to have neurodevelopmental deficits and take part in special education classes and are less likely to complete higher education. Further, they often face health-related job difficulties and are less likely to be employed. People with complex forms of CHD are most likely to experience education and career challenges. This review (i) summarizes current knowledge about educational experiences and attainment, (ii) describes common employment challenges and outcomes, and (iii) offers strategies for various stakeholders. Optimization of educational and employment outcomes often benefits from collaborative efforts among pediatric and adult providers, patients, families, and educators. All strategies must be individually tailored to the neurodevelopmental strengths and weaknesses of each patient; outcomes vary between individuals with significant neurodevelopmental deficits and those with above average skills, abilities, and opportunities. We must also avoid making assumptions and placing artificial limits on academic and career aspirations. The collective objective is to support people born with CHD to achieve quality of life and autonomy goals that are most meaningful for them.

The N7 of purine nucleotides presents one of the most dominant metal ion binding sites in nucleic acids. However, the interactions between kinetically labile metal ions like Mg(2+) and these nitrogen atoms are inherently difficult to observe in large RNAs. Rather than using the insensitive direct (15)N detection, here we have used (2)J-[(1)H,(15)N]-HSQC (Heteronuclear Single Quantum Coherence) NMR experiments as a fast and efficient method to specifically observe and characterize such interactions within larger RNA constructs. Using the 27 nucleotides long branch domain of the yeast-mitochondrial group II intron ribozyme Sc.ai5gamma as an example, we show that direct N7 coordination of a Mg(2+) ion takes place in a tetraloop nucleotide. A second Mg(2+) ion, located in the major groove at the catalytic branch site, coordinates mainly in an outer-sphere fashion to the highly conserved flanking GU wobble pairs but not to N7 of the sandwiched branch adenosine.

A series of three molecular dynamics simulations at 300 K in explicit solvent environments of chloroform, methanol and water has been performed on the pulmonary surfactant lipoprotein, SP-C, comprising several consecutive valine residues in order to investigate the stability of the alpha-helical conformation. Two additional simulations were performed on truncated SP-C with a five-residue N-terminal deletion at 300 K and 500 K in water, the high temperature run in order to increase the rate of peptide denaturation. Indications of destabilization appear in chloroform during 1 ns while the SP-C alpha-helix is remarkably stable during 1 ns in methanol and water. In particular the polyvalyl part comprising residues Val15 to Val21 remains intact even at elevated temperature, and the valines do not disrupt the alpha-helical conformation. The valyl-rotamer sampling is partly restricted. Unfolding takes place successively along the primary sequence starting from the C-terminal end. Factors affecting polypeptide stability in molecular dynamics simulations are addressed. The intrinsic helix-forming tendency of valine residues and its dependence on the sequence context, and the role of the solvent environment in stabilizing or destabilizing an alpha-helical fold, are discussed.