Background Adults with congenital heart disease (CHD) are at high risk of premature death, making advance care planning (ACP) crucial for aligning care with individual values and goals. Previous ACP research has focused primarily on the United States and Canada, highlighting the need for a global perspective. We aimed to describe the ACP practices, needs and preferences of adults with CHD around the globe and to investigate associations with patient-related factors. Methods This cross-sectional study, part of the APPROACH-IS II project, assessed ACP preferences, needs and practices using patient-reported surveys. Overall, 8,281 patients with CHD (median age 32 years; 54% women; 15% mild, 58% moderate, 27% complex CHD) from 53 centers in 32 countries, spanning 6 continents, were included. Results Over half (55%) of participants reported speaking to their physician about how their health might be in the future and 9% had preferences being documented in a plan. According to 66% of patients, the best time to initiate ACP is early in the disease trajectory. Most patients indicated being relatively comfortable talking to their physician about their future health and about death. ACP varied widely across different countries, with United States and Canada top of the class for most variables. Conclusions When looking at global ACP practices, needs and preferences, much room for improvement of ACP provision could be noticed. Also, a notable variation in ACP was observed worldwide.

BACKGROUND:Exercise is beneficial in adult congenital heart disease, but patients with prosthetic materials, including valve-in-valve right ventricle-to-pulmonary artery (RV-PA) conduits, require tailored advice regarding high-impact sports. CASE SUMMARY:A 19-year-old man with repaired pulmonary atresia, ventricular septal defect, and valve-in-valve RV-PA conduit placement developed exertional dyspnea after blunt chest trauma during competitive ice hockey. Imaging revealed significant prosthetic conduit stenosis due to stent compression. He underwent urgent surgical conduit replacement, with full recovery. DISCUSSION:This case illustrates a rare complication of blunt trauma leading to prosthetic conduit failure. It highlights the need for dynamic imaging and reinforces guideline-based counseling to avoid collision sports in those with valve-in-valve RV-PA conduits. Holistic approaches including shared decision-making regarding exercise prescription and regular reassessment is essential in managing exercise safely in patients with adult congenital heart disease. TAKE-HOME MESSAGE:Trauma threatens anterior prosthetic valves, with timely dedicated imaging and personalized exercise prescription being essential.

AIMS:Pulmonary arterial hypertension (PAH) is a common complication of congenital heart disease (CHD). PAH following CHD repair (repaired PAH-CHD) is an emerging population with increased morbidity and mortality. Existing PAH risk scores are unvalidated in young children with this condition. METHODS AND RESULTS:A 20-year cohort from the UK National Paediatric PH Service was studied to describe peri-operative characteristics and outcomes in children with repaired PAH-CHD and to create a tailored risk stratification tool. This tool was externally validated using the national Spanish PH (REHIPED) registry. The study included 178 patients (median age 3.2 years, 58.4% female), with 73.0% referred post-CHD repair. Complex CHD was present in 61.2%, and 48.9% had both pre- and post-tricuspid shunts. Down syndrome was noted in 33.1%. At initial post-operative assessment, 53.1% exhibited symptoms like breathlessness, 30.9% had moderate-severe right ventricular dilatation, and 23.7% showed right ventricular systolic impairment. During a median six-year follow-up of 156 patients, 19.2% died and 3.2% required lung transplantation, with survival rates at one, five, and ten years being 94.7%, 85.9%, and 80.1%, respectively. The developed risk score, based on clinical variables including absence of pre-operative PH, breathlessness, right ventricular dysfunction, and pulmonary vascular resistance index, showed good performance and calibration in predicting outcomes. CONCLUSION:In this national cohort of children with repaired PAH-CHD, mortality is significant. This novel, simple risk score has been developed and validated specifically for children with repaired PAH-CHD, useful at the time of post-operative assessment to predict outcome and direct management.

BACKGROUND AND AIMS:The Fontan operation and its modifications have transformed the management of children with functional single ventricle physiology. While outcomes have improved, peri-operative complications remain common. This study aimed to assess early outcomes and complications following Fontan completion in a large international European cohort. METHODS:The EuroFontan registry is a multicentre retrospective study involving 21 congenital heart disease and transplant centres across Europe. Data were collected on patients who underwent Fontan surgery from January 1990 to January 2023. Analyses focused on the most recent 15-year period. A composite early adverse outcome (death within 30 days or in-hospital, low cardiac output syndrome, stroke, or Fontan takedown) was used. Predictors were assessed using multivariable mixed-effects logistic regression, with centre included as a random effect. Missing data were handled using multiple imputation with Rubin's rules, and sensitivity analyses were performed to assess robustness. RESULTS:Of 3510 patients, this analysis focused on 2075 individuals from the past 15 years, with a median age of 4.2 [interquartile range 3.2-6.2] years at Fontan completion. Early mortality was 1.0% (95% confidence interval .66%-1.54%). The composite adverse outcome occurred in 5.1% (95% confidence interval 4.2%-6.1%). On multivariable analysis, morphology other than tricuspid atresia was the only significant predictor of the composite outcome (odds ratio 2.2, 95% confidence interval 1.21-3.99, P = .01). CONCLUSIONS:Fontan surgery has evolved and, in contemporary practice, has low peri-operative morbidity and mortality. Morphology other than tricuspid atresia was associated with increased risk of early adverse outcomes, highlighting the importance of pre-operative risk stratification.

The physiology of the heart has been a fascination of thinkers since ancient times. The function of the heart as a pump was proposed by the ancient Greek anatomist Erasistratus, but our modern understanding of the flow of blood through the heart started with the work of William Harvey in the 17th century. The 20th century heralded further breakthroughs, including the electrical conduction system of the heart, as well as its specialized cellular ultrastructure. A working understanding of cardiac physiology, including the integration and fine-tuning of its electrical and mechanical aspects, is essential for all physicians and a prerequisite to understanding physiological adaptation in health and disease.

AIMS:Adults with congenital heart disease and heart failure (HF) face lifelong, complex challenges. Despite improved survival, current care models often overlook their emotional, social, and long-term planning needs. Existing health-related quality of life (HRQoL) tools frequently miss key domains relevant to adult congenital heart disease (ACHD) patients, such as psychological fatigue, family dependence, and unmet support needs. Standard metrics like NYHA class and LVEF offer limited insight into their lived psychosocial burden. To explore the lived experiences of ACHD patients with HF (ACHD-HF) and identify domains to inform development of patient-centered HRQoL tools and improvements in shared decision-making and care delivery. METHODS AND RESULTS:Three focus groups (n = 22) and cognitive interviews (n = 12) were conducted with ACHD-HF patients at a UK specialist center. Data were analysed using template analysis, guided by predefined domains (physical, psychological, social, and long-term planning) and emergent themes. Five themes reflected unmet psychosocial and care needs: (i) mental exhaustion and cognitive fatigue, (ii) feeling misunderstood and emotionally invisible, (iii) the burden of lifelong family dependence, (iv) challenges with relationships, intimacy, and identity, and (v) uncertainty around end-of-life planning. Participants voiced the need for more meaningful communication, integrated psychological support, and structured opportunities to engage in care decisions. CONCLUSION:Patient narratives provide critical insight into care quality. Incorporating underrepresented psychosocial domains into HRQoL assessment and service planning can promote more responsive, equitable, and emotionally informed ACHD-HF care.

INTRODUCTION:The Fontan procedure and its modifications have dramatically transformed prognosis in individuals with single ventricle physiology, yet long-term outcomes remain challenging due to the high incidence of short and long-term complications. Common issues include arrhythmias, heart failure, Fontan-associated liver disease and an increasing need for reintervention or transplantation, all of which substantially impact on patients' quality of life and longevity. As this population ages, late cardiac and extracardiac complications are common, which underscores the need for ongoing monitoring and comprehensive multidisciplinary care aimed at early and effective management. AREAS COVERED:This review summarizes current evidence on the long-term outcomes after Fontan-type surgery. It describes the unique pathophysiology of the Fontan circuit, and critically evaluates incidence, severity, and management strategies for common cardiac and extracardiac complications, focusing on established clinical practice and recent advances. The review also highlights the value of continued specialist multidisciplinary care. EXPERT OPINION:Emerging research supports the potential of novel medical therapies and devices to further improve outcomes, yet optimal care remains grounded in multidisciplinary management rather than experimental approaches. Continued research is vital to support clinical guidelines and improve the quality of life and outcomes of individuals living with a Fontan-type circulation.

Aims:Patients with pulmonary arterial hypertension (PAH) after congenital heart disease (CHD) correction (PAH-CHDcor) are becoming the most prevalent and rapidly expanding group within PAH associated with CHD (PAH-CHD), yet data on its presentation, long-term outcomes and prognostic variables are lacking. We report on a large paediatric and adult population with PAH-CHDcor, focusing on clinical presentation and long-term survival. Methods and results:We studied 127 PAH-CHDcor patients (mean age 21.5 ± 10.5 years; 74.8% female) diagnosed via cardiac catheterization from 2006 to 2022. The majority had post-tricuspid shunts (73.2%), with combined pre- and post-tricuspid (11.8%) and complex shunts (6.3%) less frequent. Pulmonary vascular resistance (PVR) at diagnosis averaged 13.2 ± 8.9 WU. Diagnosis occurred late (>5 years post-repair) in 43.3% of patients. Median follow-up was 4.0 (IQR 2.0-6.4) years. Kaplan-Meier estimates for survival at 3 and 5 years were 93.3% and 89.6%, respectively. Higher baseline PVR predicted mortality (HR 1.10, 95% CI 1.03-1.16, P = 0.003) and was the strongest multivariable predictor of a composite endpoint (death, heart failure hospitalization, or parenteral prostacyclin initiation; HR 1.11, 95% CI 1.05-1.18, P < 0.001). An exploratory application of a paediatric prognostic score (GOSH) showed excellent discriminative power for mortality (AUC 0.867) and the composite endpoint (AUC 0.856) at 5 years in this independent cohort. Conclusion:Mortality and morbidity are considerable in patients with PAH-CHDcor despite modern management. Regular, careful screening of all patients with repaired CHD is essential to ensure early diagnosis and risk stratification, with proactive evidence-based treatment to improve outcomes in this expanding population.

BACKGROUND:Advances in medical and surgical care have improved survival in patients with transposition of the great arteries (TGA), shifting focus toward quality of life (QoL). In this study we evaluate QoL in adults with TGA, including congenitally corrected TGA (ccTGA) and patients with dextro-TGA (d-TGA), by comparing patients with a systemic right ventricle (sRV) and systemic left ventricle (sLV), while identifying mediating factors. METHODS:This cross-sectional study, part of the APPROACH-IS II trial, included 798 adults with TGA from 42 centres worldwide. QoL was assessed using a linear analogue scale (0-100). Regression models identified variables associated with QoL, and mediation analysis assessed the effect of sRV on QoL. RESULTS:Among participants (median age 34 years, 44.9% women), 504 (63.2%) had an sRV (ccTGA or d-TGA with atrial switch) and 294 (36.8%) had an sLV (ccTGA with double-switch operation or Rastelli and d-TGA with arterial switch or Rastelli). Patients with an sRV reported lower QoL (median 75, interquartile range 60-85) compared with those with an sLV (median 80, interquartile range 70-90; P < 0.001). The negative effect of sRV on QoL was mediated for 59% of patients by ventricular dysfunction (B = -2.37, 95% confidence interval -3.38 to -1.21; P < 0.001). Poorer QoL was independently associated with Asian race, employment status (job seeking, unemployed, or disabled), less social support, New York Heart Association functional class ≥ II, ventricular dysfunction, more interventional catheterizations, and depression/anxiety. CONCLUSIONS:TGA patients with an sRV experience a lower QoL than those with an sLV, mediated mainly by ventricular dysfunction. CLINICAL TRIAL REGISTRATION:NCT04902768.

Abstract Background/Introduction Accurate assessment of left ventricular (LV) and right ventricular (RV) systolic function is crucial in managing people with congenital heart disease (CHD), but can be challenging given the vast anatomic heterogeneity and varied surgical history in this population. While 3D echocardiography (3DE) is the most reproducible and best-validated echocardiographic technique for assessing biventricular systolic function, it requires special equipment and expertise and is not feasible in patients with poor acoustic windows. EF2Net, a dual-task deep learning model, has shown promise in predicting 3DE-derived LV and RV ejection fraction (EF) from standard 2D echocardiographic (2DE) 4-chamber views (1). The model has been previously tested in patients with acquired heart disease, healthy volunteers, and a low-risk community-based cohort but has not been validated in adults with CHD yet. Purpose We sought to validate the performance of the EF2Net model in predicting LV and RV EF in adults with CHD. Methods Ninety-six consecutive adults with CHD who had undergone echocardiography as part of their routine clinical follow-up were screened. Patients with univentricular physiology and systemic RV were excluded, as were those with insufficient image quality to obtain 3DE full-volume datasets for both ventricles. The final cohort comprised 90 patients (177 apical 4-chamber views). The EF2Net deep learning model was applied and its predictions of LV and RV EF were compared to the actual 3DE measurements (Figure). Results The median age of the cohort was 28.0[IQR 23.0-34.5] years and 48.9% were female. The most common CHD diagnosis was a shunt lesion in 37.8% (of which 64.7% included a post-tricuspid component), followed by LV outflow tract disease in 28.8%, and RV outflow tract disease in 24.4%. Most patients (90%) were in NYHA functional class I. The mean 3DE LV EF was 60.9±6.8% and the mean 3DE RV EF was 51.5±6.8%. EF2Net predicted 3DE-derived LV EF and RV EF with a mean absolute error (MAE) of 5.0 and 6.4 percentage points, respectively. Conclusions The EF2Net model accurately predicts biventricular EF in adults with CHD using routine 2DE 4-chamber views. This validation underscores the potential of EF2Net to enhance clinical practice by providing reliable, non-invasive assessments of ventricular function in patients with complex ventricular morphology, particularly in settings where 3DE is not readily available.

Background:The lack of pulsatile nature of the pulmonary blood flow through total cavopulmonary circulation (TCPC) has shown to prompt endothelial dysfunction thus creating a hypercoagulable state. Patients with a Fontan-type circulation are, therefore, at an increased risk of venous and arterial thromboembolism. In the setting of hypoplastic left heart syndrome following staged surgical repair, subaortic thrombosis is relatively common, but thrombosis of the hypoplastic aortic root is less commonly described. Case summary:Here, we present the case of a 25-year-old male with a background of TCPC and poor adherence to anticoagulation, who presented with features of acute coronary syndrome and was found to have right coronary artery thromboembolism stemming from thrombosis of the aortic root. He was treated with thrombolysis instead of coronary intervention due to the risk of dislodging the aortic root thrombus. He underwent successful thrombolysis and was discharged home thereafter. Discussion:In patients with a Fontan-type circulation and Norwood repair with Damus-Kaye-Stansel anastomosis, rigorous adherence to anticoagulation, and regular specialist follow-up are crucial. This case emphasizes the dire consequences of medication non-compliance in these patients. Effective patient education on the importance of anticoagulation and ensuring compliance through ongoing surveillance in clinic and primary care can be lifesaving in preventing such events.

BACKGROUND:The global prevalence of congenital heart disease (CHD) is increasing. Research on patient-reported outcomes (PROs) predominantly originates from high-income countries, resulting in an incomplete understanding of the true global burden of CHD from the patient perspective. Therefore, we described perceived health, psychological distress and quality of life (QoL) in a large sample of adults with CHD from the globe and explored the relationship between PROs and the income level of the countries. METHODS:Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart Disease-International Study II (APPROACH-IS II) represents an international cross-sectional investigation of PROs in 8415 patients from 53 centres across 32 countries. Patients completed questionnaires to measure perceived health status (RAND-12 Health Survey; EuroQOL-5D Visual Analog Scale); depressive symptoms (Patient Health Questionnaire-8, PHQ-8); anxiety (Generalized Anxiety Disorder Scale-7) and QoL (Linear Analog Scale). Gross National Income per capita in US dollars was used for stratifying countries according to income levels. RESULTS:Large intercountry disparities in PROs were observed. Switzerland demonstrated the highest mean scores for physical functioning, self-rated health and QoL, while Senegal had the lowest scores. Patients from Malta demonstrated the highest mean scores for mental health, and Senegal had the lowest scores. With regard to depressive symptoms and anxiety, Pakistan had the lowest mean scores, while Turkey had the highest scores. Patients from high-income nations reported significantly better physical functioning, mental functioning and QoL. CONCLUSION:Large intercountry disparities in PROs were observed. APPROACH-IS II is a pioneering international endeavour that comprehensively evaluated PROs among adults with CHD, drawing participants from nations with different income levels. TRIAL REGISTRATION NUMBER:NCT04902768.

INTRODUCTION:Person-centred care (PCC) is widely recommended by the World Health Organisation and other leading healthcare organisations. Although individuals with congenital heart disease (CHD) require lifelong follow-up, it remains unclear whether healthcare systems worldwide provide PCC to this population. This study investigated one key component of PCC, autonomy support, using patient-reported experiences in a global sample of adults with CHD. METHODS:The study was part of the international cross-sectional APPROACH-IS-II. Data were obtained from 8367 adults with congenital heart disease across 53 centres in 32 countries. Perceived autonomy support was measured using a modified version of the Health Care Climate Questionnaire. A general linear mixed model was used to analyse the data. RESULTS:Autonomy support scores ranged from 27.9 (SD ± 9.4) to 37.7 (SD ± 6.3) on a six - 42 point scale. A significant clinical difference in perceived autonomy was observed, with calculated effect sizes using Cohen's D exceeding eight in several countries. Higher autonomy scores were associated with having a high school diploma and older age. Patient characteristics accounted for 1.4 % of the variance, while geographical location explained 7.5 %. A large proportion of the variance remained unexplained. CONCLUSION:This study highlights significant global differences in perceived autonomy support from healthcare providers among adults with CHD. Education and age were associated with higher levels of perceived autonomy support. The experience of PCC is challenged by diverse expectations of individuals and families, healthcare providers' beliefs and values, institutional policies, and broader sociocultural contexts.

BACKGROUND:SOX17 has recently been identified as a risk gene for idiopathic, heritable and co-incidental congenital heart disease (CHD) pulmonary arterial hypertension (PAH). Distinct phenotypic characteristics in PAH associated with variants in SOX17 (SOX17-PAH) are still emerging. METHODS:Retrospective review describing natural history and outcomes in a national cohort of children with SOX17-PAH. Findings were collated with data from previously reported individuals to compare adult and paediatric cases. RESULTS:In the current cohort 8/69 (11.6 %) children tested had a variant and 6 variants are newly reported. Six children had CHD. Haemodynamic assessment demonstrated high mean pulmonary artery pressure (60 [49-102] mmHg) and pulmonary vascular resistance (17.2 [9.6-27.7] WU.m2). Atypical radiological features included ground-glass opacification and pulmonary arterial tortuosity. Despite combination-therapy, outcomes were poor (lung transplant/death = 5) with median transplant/Potts-shunt-free survival of 7.5 [0.1-15.1] years. In addition to the present cohort, published phenotypic data were available in 71 individuals. Combining data across studies showed a bimodal distribution of age at disease onset, with majority having childhood-onset PAH (69 %). Those with CHD were diagnosed younger (8.8 versus 21.7 years, p < 0.001). Variants located in the HMG-box domain were more likely to have childhood-onset PAH (52.6 % versus 20.7 %, p = 0.005). Where reported, 26 % of paediatric cases underwent Potts-shunt and 38 % of all cases underwent lung transplantation. CONCLUSION:This study suggests SOX17-PAH is characterised by unfavourable haemodynamics, high rates of CHD, and treatment-refractory disease. The location of SOX17 variants may influence the age of onset of PAH.

Aims To evaluate the late outcomes of adults (above 35 years) with a Fontan-type circulation, for whom current data on morbidity and mortality are lacking. Methods and results Data were collected retrospectively on consecutive patients with Fontan circulation above the age of 35 years followed in three European specialist centres. Overall, 115 Fontan patients were included [median age 35 (range 35-48) years, 47.8% female]. The most common underlying congenital heart disease diagnosis was tricuspid atresia (n = 58, 50.4%), and the age at first Fontan completion was 9.1 (interquartile range 5.0-15.8) years. Almost two-thirds (61.7%) of patients had undergone an atriopulmonary Fontan, and 23.5% had received a total cavopulmonary connection. One-third required repeat surgery or intervention. Most patients (55.9%) were in New York Heart Association functional class II or class I (30.6%), 76 (66.1%) patients had experienced at least one arrhythmia, and eight (7.0%) protein-losing enteropathy. At a median follow-up of 5.0 (2.4-10.3) years, 15 (13.0%) patients were referred for transplantation assessment and 19 (16.5%) patients died, mainly from heart failure (84.2%). Univariable predictors of death or transplantation included lower serum albumin level [hazard ratio (HR) 1.09 per g/L decrease, 95% confidence interval (CI): 1.04-1.15, P = 0.0009], prior heart failure admission (HR 4.28, 95% CI:1.75-10.44, P = 0.001), prior atrial tachycardia or flutter (HR 3.02, 95% CI: 1.23-7.38, P = 0.02), and baseline pulmonary vasodilator therapy (HR 8.59, 95% CI:1.05-70.13, P = 0.04). Lower serum albumin and prior atrial tachycardia or flutter remained significant on bivariable analysis. Conclusion Our study highlights the significant morbidity and mortality in older adults with a Fontan-type circulation, emphasizing the need for lifelong specialist surveillance with frequent risk stratification, close monitoring, and early consideration for transplantation assessment. Lay summary This study sheds light on the complex medical journey of adults living with the outcomes of Fontan surgery-a procedure performed in early childhood. These individuals have reached the milestone of their forties and beyond, yet they confront an array of significant health challenges that necessitate lifelong, individualized congenital heart disease care. The key findings are as follows: .While adults with Fontan circulation are living longer, they are at high risk of death, mainly due to heart failure. They also face a host of other health issues, including the need for additional surgeries or interventions. Nearly two-thirds have experienced some form of heart rhythm problem, and a substantial number eventually require evaluation for a heart transplant .Heart transplants within this group were rare, which may be linked to the various barriers to transplantation in the Fontan population. Moreover, those with multiple indicators of advanced disease have a heightened risk of life-threatening events, reinforcing the critical need for personalized and continuous specialist care designed to meet their distinct health requirements.