Iveta Simkova

Aims: Transition from paediatric to adult congenital heart disease (ACHD) care is a critical determinant of lifelong disease management for individuals with congenital heart disease (CHD). However, structured transition programmes remain inconsistently implemented, and data are lacking on current practices in Central and South-Eastern European (CESEE) countries. This study aimed to evaluate existing transition practices across CESEE and to identify opportunities to improve the development and implementation of structured programmes. Methods and results: An online questionnaire was distributed to centres involved in CHD care across CESEE countries. The survey assessed centre characteristics, transition services, transfer processes, and development priorities. Responses from 60 healthcare CHD professionals representing 43 centres in 21 countries were analysed. A formal ACHD service was reported in 29 (67%) of 43 centres, mostly established after the year 2000 (72%), caring for a median of 1500 (interquartile range 782–4000) patients with ACHD. Overall, only 10 (23%) centres reported having a formal transition programme. Transition counselling was typically delivered in a single outpatient visit, commonly involving paediatric and adult CHD physicians, but rarely nurses and psychosocial professionals (20% each). Structured transfer processes were inconsistently implemented, and only half of the centres monitored non-attendance at initial adult visits. In centres without formal programmes, informal counselling largely occurred at the final paediatric or first adult visit, relying on patient self-referral, and lacking follow-up. Conclusion: Formal transition programmes remain limited across CESEE ACHD centres. Standardized clear pathways, investment in dedicated transition clinics, and trained workforce are needed to improve continuity of care for adolescents with CHD.

Congenital heart diseases (CHDs) are characterized by profound metabolic remodeling of mitochondrial pathways. However, data regarding mitochondrial respiration, oxidative phosphorylation (OXPHOS), and fatty acid oxidation (FAO) in patients with Ebstein anomaly (EA) are currently unavailable. This study evaluated 14 EA patients and 18 healthy volunteers. In accordance with the 2020 ESC guidelines, patients were stratified into two cohorts: EA-0 (patients currently without an indication for intervention) and EA-1 (patients meeting Class Ia or IIb indications for surgical intervention). Platelet OXPHOS and FAO parameters were determined simultaneously via high-resolution respirometry. CI-linked LEAK respiration (substrates: pyruvate and malate) and FAO-linked LEAK respiration (substrates: octanoylcarnitine and malate) were significantly elevated in EA patients. Furthemore, the EA-1 group showed significantly lower coenzyme Q₁₀ (CoQ₁₀) and γ-tocopherol levels than EA-0. Differences in the measured parameters between groups suggest a state of myocardial adaptation and transient metabolic reprogramming in EA-0 patients, whereas in EA-1 patients, a significant change in mitochondrial metabolism and bioenergetics was found. We hypothesize that increased platelet LEAK mitochondrial respiration and CoQ₁₀ deficiency could be key signals of mitochondrial reprogramming and serve as potential biomarkers for right ventricular dysfunction. The analysis of platelet mitochondrial bioenergetics represents a novel area of translational mitochondrial cardiology, contributing to personalized diagnostics, risk stratification and optimal surgical timing in EA patients.

Aims: Adults with congenital heart disease (ACHD) knowledge regarding their heart condition is crucial for optimal long-term outcome. Previous studies from Northwestern Europe showed that important gaps in ACHD knowledge still exist. This study evaluates ACHD patients’ knowledge in Central and Southeastern Europe (CESEE) and aims to identify opportunities for improving lifelong ACHD care and outcomes in this region. Methods and results: A structured survey regarding the baseline heart condition knowledge was prospectively distributed to stable ACHD patients over a 1-year period (2021–22). Patients’ responses were verified by their ACHD physicians to ensure accurate background information. Amongst 1650 patients (age 34.5 ± 14) across 14 CESEE countries, the majority (1023, 62.0%) had simple congenital heart disease with at least one previous heart procedure performed (1201, 72.8%); 1060 (64.2%) were asymptomatic, and 875 (53.8%) had secondary school education. Overall, 576 (34.9%) did not have basic knowledge regarding their congenital heart disease, and 146 (12.2%) did not have basic understanding regarding their previous heart procedure/s. Patients considered their life expectancy similar to the general population (P = 0.039). Encouragingly, 962 (59.5%) expressed a desire to learn more, and 929 (58.1%) favoured technological integration in their care. Conclusion: Significant knowledge gaps exist amongst CESEE ACHD patients regarding their heart condition. Better ACHD patient education on current health and prospects is urgently needed. The results of this study should serve for developing congenital heart disease structured transitional and educational programmes in CESEE incorporating technology for their ACHD care and education to enhance patients’ health knowledge and healthy life behaviours to positively influence their lifelong prospects.

Risk of chronic thromboembolic pulmonary hypertension after splenectomy

Ebstein's anomaly (EA) is a rare congenital heart disease (CHD) characterized by well known echocardiographic (ECHO) features. The golden standard method for evaluating these patients is cardiac magnetic resonance (CMR) although not easily accessible. The aim of the study was to evaluate the correlation between ECHO and CMR parameters and to determine the optimal parameters for long-term follow-up. Performed was a retrospective cross-section analysis from our registry, which we consider national, as we serve as the only national adult CHD centre. Of the 48 patients in the EA national registry, 28 non-operated adults (60% male, median age 39 (18–64) years) with performed CMR were included. Analyzed were ECHO and CMR right ventricular (RV) characteristics, NTproBNP and 6-minute walking distance (6MWD). ECHO parameters were evaluated as follows: 1. morphometric [tricuspid valve septal cusp displacement (mm), long-axis RV end-diastolic dimension (RVEDD,mm), long-axis end-diastolic right to left ventricle diameter ratio (RV/LV)] and 2. functional [tricuspid annular plane systolic excursion (TAPSE,mm), RV fractional area change (FAC,%), RV tissue Doppler myocardial velocity (m/s)]. CMR-derived analyzed paramaters were: ejection fraction (EF,%) and end-diastolic volume (EDV,ml) indexed per body surface area (BSA,m²). According to CMR-derived EDV, patients were divided into groups: 1. normal size RV (55–105ml/m²), 2. dilated RV (>105ml/m²) and 3. small RV (2). For ECHO morphometric measurements, Spearman's correlation (R) showed strong, statistically significant correlation of CMR-derived EDV with ECHO-based RV/LV ratio (R=0.6989, P<0.0001); and moderate, statistically significant correlation with ECHO-based RVEDD (R=0.55, P=0.004); No significant correlations between CMR-derived EF and ECHO parameters were found. CMR-derived EF and EDV were independent of the severity of septal leaflet displacement; CMR-derived EF was shown to be conditional to RV EDV, with mean EF in Groups 1/2/3 as follows: 57%/36.5%/25.8% (P=0.0013). CMR-derived Group 3 (small RV) compared to Groups 1 and 2 exhibited worst 6MWD (mean 416m) and highest NTproBNP (mean 1021ng/l) though without statistical significance. The assessment of RV in EA seems more critical than the morphology of the tricuspid valve itself. Therefore, as in the context of our results, more emphasis needs to be placed on RV size. In particular, small-capacity RV, as we found, showed strong relation to reduced RV function and some (though not significant) to NTproBNP and 6MWD. CMR-derived EDV and EF are accepted as the gold standard method for RV evaluation. Since we detected significant correlation of CMR with simply gained ECHO parameters (RV/LV ratio and RVEDD), we assume that easily accessible ECHO remains a pertinent method in routine follow-up, able to reflect the complex hemodynamic situation in EA. Type of funding sources: None.

To assess the characteristics, management, and survival of patients with multiple native valvular heart disease (VHD). Among the 5087 patients with ≥1 severe left-sided native VHD included in the EURObservational VHD II Survey (maximum 3-month recruitment period per centre between January and August 2017 with a 6-month follow-up), 3571 had a single left-sided VHD (Group A, 70.2%), 363 had one severe left-sided VHD with moderate VHD of the other ipsilateral valve (Group B, 7.1%), and 1153 patients (22.7%) had ≥2 severe native VHDs (left-sided and/or tricuspid regurgitation, Group C). Patients with multiple VHD (Groups B and C) were more often women, had greater congestive heart failure (CHF) and comorbidity, higher left atrial volumes and pulmonary pressures, and lower ejection fraction than Group A patients (all P ≤ 0.01). During the index hospitalization, 36.7% of Group A (n = 1312), 26.7% of Group B (n = 97), and 32.7% of Group C (n = 377) underwent valvular intervention (P < 0.001). Six-month survival was better for Group A than for Group B or C (both P < 0.001), even after adjustment for age, sex, body mass index, and Charlson index [hazard ratio (HR) 95% confidence interval (CI) 1.62 (1.10–2.38) vs. Group B and HR 95% CI 1.72 (1.32–2.25) vs. Group C]. Groups B and C had more CHF at 6 months than Group A (both P < 0.001). Factors associated with mortality in Group C were age, CHF, and comorbidity (all P < 0.010). Multiple VHD is common, encountered in nearly 30% of patients with left-sided native VHD, and associated with greater cardiac damage and leads to higher mortality and more heart failure at 6 months than single VHD, yet with lower rates of surgery. Characteristics, survival and management differences in patients with multiple valvular heart disease.

Introduction: Pulmonary hypertension (PH) is a common complication in patients with congenital heart disease (CHD), aggravating the natural, post-operative, or post-interventional course of the underlying anomaly. The various CHDs differ substantially in characteristics, functionality, and clinical outcomes among each other and compared with other diseases with pulmonary hypertension. Objective: To describe current management strategies and outcomes for adults with PH in relation to different types of CHD based on real-world data. Methods and results: COMPERA (Comparative, Prospective Registry of Newly Initiated Therapies for Pulmonary Hypertension) is a prospective, international PH registry comprising, at the time of data analysis, >8200 patients with various forms of PH. Here, we analyzed a subgroup of 680 patients with PH due to CHD, who were included between 2007 and 2018 in 49 specialized centers for PH and/or CHD located in 11 European countries. At enrollment, the patients’ median age was 44 years (67% female), and patients had either pre-tricuspid shunts, post-tricuspid shunts, complex CHD, congenital left heart or aortic disease, or miscellaneous other types of CHD. Upon inclusion, targeted therapies for pulmonary arterial hypertension (PAH) included endothelin receptor antagonists, PDE-5 inhibitors, prostacyclin analogues, and soluble guanylate cyclase stimulators. Eighty patients with Eisenmenger syndrome were treatment-naïve. While at inclusion the primary PAH treatment for the cohort was monotherapy (70% of patients), with 30% of the patients on combination therapy, after a median observation time of 45.3 months, the number of patients on combination therapy had increased significantly, to 50%. The use of oral anticoagulants or antiplatelets was dependent on the underlying diagnosis or comorbidities. In the entire COMPERA-CHD cohort, after follow-up and receiving targeted PAH therapy (n = 511), 91 patients died over the course of a 5-year follow up. The 5-year Kaplan–Meier survival estimate for CHD associated PH was significantly better than that for idiopathic PAH (76% vs. 54%; p < 0.001). Within the CHD associated PH group, survival estimates differed particularly depending on the underlying diagnosis and treatment status. Conclusions: In COMPERA-CHD, the overall survival of patients with CHD associated PH was dependent on the underlying diagnosis and treatment status, but was significantly better as than that for idiopathic PAH. Nevertheless, overall survival of patients with PAH due to CHD was still markedly reduced compared with survival of patients with other types of CHD, despite an increasing number of patients on PAH-targeted combination therapy.

Exposure to anthracyclines (ANT) during childhood represents a high risk for development of late cardiotoxicity. Cardiotoxicity is usually detected only when clinical symptoms or progressive cardiac dysfunction have already occurred. Early detection of cardiotoxicity may lead to better therapeutic outcome. N-terminal pro-brain natriuretic peptide (NTproBNP) has been hypothesized to reflect increased left ventricular wall stress before development of echocardiographic abnormalities. The aim of this study was to detect cardiac abnormalities using plasma NTproBNP and echocardiography in asymptomatic childhood leukemia survivors treated with or without cardiotoxic anthracycline therapy.

Long-term cardiac effects of treatment for childhood leukemia