As the Canadian Journal of Cardiology (CJC) enters its 38th year of publication, I am tremendously excited to lead the newest companion journal in the CJC family, CJC Pediatric and Congenital Heart Disease (CJCPC). Building on the success of CJC Open, the Canadian Cardiovascular Society has launched the first journal to focus on pediatric cardiology and congenital heart disease across the lifespan. This is a rapidly growing area of scientific discovery and, in the recent years at CJC, we have seen an increase in submissions of high-quality science.As a Canadian journal with an international reach, I reflect on the contributions to the field from Canadians. There is a rich history of pioneers in both congenital heart disease and pediatric cardiology in our country. It was the formative work of Dr Maude Abbott in the early 1900s, when she began to categorise congenital heart lesions that laid the groundwork for the development of the field of congenital cardiology. Her work, based on specimens she collected and had donated, was spurred on by Sir William Osler. In response to Dr Osler’s request that she contribute a chapter on congenital heart disease to his book, System of Medicine, Dr Abbott developed a systematic approach to categorize congenital heart disease. This culminated in her seminal publication, Atlas of Congenital Heart Disease, published by the American Heart Association in 1936.1Abbott M.E. Atlas of Congenital Cardiac Disease. American Heart Association, New York1939: 62Google ScholarNearly a century later the field has evolved from one of making postmortem diagnoses, to one where the vast majority of children born with congenital heart disease live and thrive well into adulthood. The development of cardiopulmonary bypass in the 1950s, the use of prostaglandin therapy and the development of the Fontan operation in the 1970s and neonatal surgery in the 1980s. With these dramatic advances in care, we have seen the birth and growth of the field of adult congenital heart disease. More recently, advances in interventional catheterisation have reduced the morbidity of congenital heart disease treatment. There has been an increased focus on long-term quality of life. There continues to be tremendous growth in preventive pediatric cardiology and the genetics of pediatric cardiology and congenital heart disease.As Editor-in-Chief of CJCPC, I look forward to growing our journal into an internationally recognized brand for the dissemination of science in pediatric cardiology and congenital heart disease across the lifespan. I am grateful to my colleagues who have joined the editorial board at CJCPC---the range of scientific expertise amongst the associate editors and editorial board members is truly impressive. Collectively, we aim to support the next generation of scientists in our field by developing specific opportunities for trainees both as trainee reviewers and trainee editorial board members.In this inaugural issue of CJCPC, we have a range of articles representing the type and spectrum of science we publish. Dr Bolduc and colleagues group has conducted a national environmental scan to evaluate the developmental follow up practices for children with congenital heart disease.2Bolduc M.E. Rennick J.E. Gagnon I. Majnemer A. Brossard-Racine M. Canadian developmental follow-up practices in children with congenital heart defects: a national environmental scan.CJC Pediatr Congen Heart Dis. 2022; 1: 3-10Abstract Full Text Full Text PDF Google Scholar Gaps in care are identified and represent obvious opportunities for improvements to our systems to support children with congenital heart disease in reaching their full potential.Mr Wei and colleagues report their findings from a prospective, observational registry and literature review on the management of supraventricular tachycardia in infants, a common medical problem for pediatric cardiologists.3Wei N. Lamba A. Franciosi S. et al.Medical management of infants with supraventricular tachycardia: results from a registry and review of the literature.CJC Pediatr Congen Heart Dis. 2022; 1: 11-22Google Scholar They found that propranolol and digoxin are the most commonly used agents, with both being effective and disease recurrence rates low, but there is a clear trend away from use of digoxin in recent years.Dr Egbe and colleagues report on their use of right atrial reservoir strain as a marker of right atrial dysfunction in adults with pulmonary atresia and intact ventricular septum.4Egbe A.C. Miranda W.R. Connolly H.M. Prognostic implications of right atrial dysfunction in adults with pulmonary atresia and intact ventricular septum.CJC Pediatr Congen Heart Dis. 2022; 1: 23-29Google Scholar Their data suggest that this imaging is nearly universally feasible and that right atrial dysfunction is prevalent in this population and associated with clinical outcomes. Their report lays the groundwork for future studies to determine both the prognostic significance and potential clinical utility of this marker of right atrial function in the care of these patients.Finally, Dr Blanchard and colleagues have conducted a survey and teaching module to determine whether automated external defibrillators could be effectively implemented in the elementary school setting to improve outcomes in sudden cardiac arrest.5Blanchard P.G. Graham J.M.I. Gauvin V. et al.Reducing barriers to optimal automated external defibrillator use: an elementary school intervention study.CJC Pediatr Congen Heart Dis. 2022; 1: 30-36Google Scholar They found that, although most schools had automated external defibrillators, formal training was not common. Implementation of a short teaching module significantly improved the appropriate use of automated external defibrillators. Clearly, it is important to advocate for both access and training to optimise outcomes from sudden cardiac arrest in the school setting.I hope you enjoy this inaugural issue of CJCPC and I look forward to connecting with you regularly as, together, we continue on the journey of learning and working steadfastly to improve the lives of our patients with heart disease. As the Canadian Journal of Cardiology (CJC) enters its 38th year of publication, I am tremendously excited to lead the newest companion journal in the CJC family, CJC Pediatric and Congenital Heart Disease (CJCPC). Building on the success of CJC Open, the Canadian Cardiovascular Society has launched the first journal to focus on pediatric cardiology and congenital heart disease across the lifespan. This is a rapidly growing area of scientific discovery and, in the recent years at CJC, we have seen an increase in submissions of high-quality science. As a Canadian journal with an international reach, I reflect on the contributions to the field from Canadians. There is a rich history of pioneers in both congenital heart disease and pediatric cardiology in our country. It was the formative work of Dr Maude Abbott in the early 1900s, when she began to categorise congenital heart lesions that laid the groundwork for the development of the field of congenital cardiology. Her work, based on specimens she collected and had donated, was spurred on by Sir William Osler. In response to Dr Osler’s request that she contribute a chapter on congenital heart disease to his book, System of Medicine, Dr Abbott developed a systematic approach to categorize congenital heart disease. This culminated in her seminal publication, Atlas of Congenital Heart Disease, published by the American Heart Association in 1936.1Abbott M.E. Atlas of Congenital Cardiac Disease. American Heart Association, New York1939: 62Google Scholar Nearly a century later the field has evolved from one of making postmortem diagnoses, to one where the vast majority of children born with congenital heart disease live and thrive well into adulthood. The development of cardiopulmonary bypass in the 1950s, the use of prostaglandin therapy and the development of the Fontan operation in the 1970s and neonatal surgery in the 1980s. With these dramatic advances in care, we have seen the birth and growth of the field of adult congenital heart disease. More recently, advances in interventional catheterisation have reduced the morbidity of congenital heart disease treatment. There has been an increased focus on long-term quality of life. There continues to be tremendous growth in preventive pediatric cardiology and the genetics of pediatric cardiology and congenital heart disease. As Editor-in-Chief of CJCPC, I look forward to growing our journal into an internationally recognized brand for the dissemination of science in pediatric cardiology and congenital heart disease across the lifespan. I am grateful to my colleagues who have joined the editorial board at CJCPC---the range of scientific expertise amongst the associate editors and editorial board members is truly impressive. Collectively, we aim to support the next generation of scientists in our field by developing specific opportunities for trainees both as trainee reviewers and trainee editorial board members. In this inaugural issue of CJCPC, we have a range of articles representing the type and spectrum of science we publish. Dr Bolduc and colleagues group has conducted a national environmental scan to evaluate the developmental follow up practices for children with congenital heart disease.2Bolduc M.E. Rennick J.E. Gagnon I. Majnemer A. Brossard-Racine M. Canadian developmental follow-up practices in children with congenital heart defects: a national environmental scan.CJC Pediatr Congen Heart Dis. 2022; 1: 3-10Abstract Full Text Full Text PDF Google Scholar Gaps in care are identified and represent obvious opportunities for improvements to our systems to support children with congenital heart disease in reaching their full potential. Mr Wei and colleagues report their findings from a prospective, observational registry and literature review on the management of supraventricular tachycardia in infants, a common medical problem for pediatric cardiologists.3Wei N. Lamba A. Franciosi S. et al.Medical management of infants with supraventricular tachycardia: results from a registry and review of the literature.CJC Pediatr Congen Heart Dis. 2022; 1: 11-22Google Scholar They found that propranolol and digoxin are the most commonly used agents, with both being effective and disease recurrence rates low, but there is a clear trend away from use of digoxin in recent years. Dr Egbe and colleagues report on their use of right atrial reservoir strain as a marker of right atrial dysfunction in adults with pulmonary atresia and intact ventricular septum.4Egbe A.C. Miranda W.R. Connolly H.M. Prognostic implications of right atrial dysfunction in adults with pulmonary atresia and intact ventricular septum.CJC Pediatr Congen Heart Dis. 2022; 1: 23-29Google Scholar Their data suggest that this imaging is nearly universally feasible and that right atrial dysfunction is prevalent in this population and associated with clinical outcomes. Their report lays the groundwork for future studies to determine both the prognostic significance and potential clinical utility of this marker of right atrial function in the care of these patients. Finally, Dr Blanchard and colleagues have conducted a survey and teaching module to determine whether automated external defibrillators could be effectively implemented in the elementary school setting to improve outcomes in sudden cardiac arrest.5Blanchard P.G. Graham J.M.I. Gauvin V. et al.Reducing barriers to optimal automated external defibrillator use: an elementary school intervention study.CJC Pediatr Congen Heart Dis. 2022; 1: 30-36Google Scholar They found that, although most schools had automated external defibrillators, formal training was not common. Implementation of a short teaching module significantly improved the appropriate use of automated external defibrillators. Clearly, it is important to advocate for both access and training to optimise outcomes from sudden cardiac arrest in the school setting. I hope you enjoy this inaugural issue of CJCPC and I look forward to connecting with you regularly as, together, we continue on the journey of learning and working steadfastly to improve the lives of our patients with heart disease. The manuscript adhered to relevant ethical guidelines. None.
More than 70 years after the description of its first successful surgical repair, tetralogy of Fallot (ToF) remains a challenging but fascinating form of congenital heart disease. Patients born with ToF can be expected to live into adulthood with a 30-year survival which exceeds 95%.1Blais S. Marelli A. Vanasse A. et al.The 30-Year Outcomes of Tetralogy of Fallot According to Native Anatomy and Genetic Conditions.Can J Cardiol. 2021; 37: 877-886Abstract Full Text Full Text PDF PubMed Scopus (14) Google Scholar Nevertheless, residual cardiac lesions after repair are nearly ubiquitous. These residual lesions include pressure-loading or volume-loading conditions, sometimes both. Consequently considerable heterogeneity in sequelae can be seen with a wide spectrum of presenting features.2Apitz C. Webb G.D. Redington A.N. Tetralogy of Fallot.Lancet. 2009; 374: 1462-1471Abstract Full Text Full Text PDF PubMed Scopus (402) Google Scholar This has made risk stratification difficult, especially as our understanding of the complex interaction between the right and the left ventricle continues to evolve. Indeed, there needs to be a balance between preventing long-term complications and avoiding unnecessary interventions. However, there remain many uncertainties pertaining to the optimal management strategy particularly in asymptomatic individuals with progressive changes in imaging and electrical parameters. In this focus issue of CJCPC, we assembled of collection of articles that review the state-of-the-art evidence pertaining to ToF management. Included are important topics that are central to our understanding of this congenital heart malformation: genotyping, phenotyping, risk stratification, arrhythmias, sudden death, interventions and surgery, access to care, patient advocacy, prevention, trajectory of care, heart failure, and the evolving field of machine learning. The importance of genetic applications in patients with ToF is increasingly being recognized as the knowledge base in this domain continues to rapidly expand. Bassett and colleagues3Bassett A.S. Reuter M.S. Malecki S. Silversides C. Oechslin E. Clinically relevant genetic considerations in tetralogy of Fallot.CJC Pediatric and Congenital Heart Disease. 2023; Abstract Full Text Full Text PDF Google Scholar provide a comprehensive overview of the evolution of genetic testing, genotype-phenotype correlations and the association between genetic profiling and clinical outcomes. They also further detail genetic profiling in contemporary clinical practice and potential applications for molecular and personalized medicine. Cardiopulmonary exercise testing is routinely used in the surveillance of children and adults with repaired ToF to characterize cardiorespiratory fitness. While management guidelines incorporate cardiopulmonary testing in patient care algorithms given the association between exercise measures and clinical outcomes, thresholds for intervention based on the variety of exercise measurements available have not been clearly elucidated. Leonardi and Cifra4 provide us with a thoughtful review of the available evidence pertaining to use of various exercise test parameters to stratify risk of adverse clinical outcomes after ToF repair. Cardiac imaging has contributed greatly to our understanding of the implications of hemodynamic sequelae after ToF repair making this anatomy one of the best-characterized lesion across the spectrum of congenital heart disease. Specifically, more than 2 decades cardiovascular magnetic resonance imaging (CMR) research has provided us with a deepening understanding of the significance of chamber enlargement, ventricular dysfunction, increased mass and myocardial scar. In this issue, two articles expand on cardiac imaging applications in the ToF population. Crean reviews multi-modality imaging, with a focus on contributions from CMR and cardiac computed tomographic imaging.5 This illustrative introductory article is followed by an elegant and thought-provoking review by Ghonim and Babi-Naryan,6 detailing the association between CMR parameters and outcomes including a description of established risk scores and the emerging role of artificial intelligence. Finally, Schäfer and Mawad7Schäfer M, Mawad W. Advanced Imaging Technologies for Assessing Tetralogy of Fallot: Insights Into Flow Dynamics. CJC Pediatric and Congenital Heart Disease. 2023.Google Scholar explore the promise of advanced imaging technologies such as 4D-Flow CMR and high-frame-rate echocardiography. Studying and quantifying blood flow dynamics and ventricular energetics enable us to better assess the impact of adverse hemodynamics caused by flow patterns, energy loss and vorticity. The authors discuss how these tools may allow earlier detection of suboptimal flow dynamics compared to conventional markers, and how this may help to better guide treatment. Patients with repaired ToF may face a spectrum of arrhythmias, impacting their health and quality of life. These include bradyarrhythmias, such as postoperative complete atrioventricular block, often necessitating lifelong pacing, junctional ectopic tachycardia and various tachyarrhythmias, including intra-atrial reentry tachycardia, non-automatic focal atrial tachycardia, atrial fibrillation, and life-threatening ventricular arrhythmias. Indeed, ventricular arrhythmias pose a significant risk, underscoring the need for thorough screening and effective management in high-risk individuals. Vô and collaborators8Vô C. Dib N. Bartoletti S. et al.Navigating Arrhythmias in Tetralogy of Fallot Throughout the Lifespan: A Case-based Review.CJC Pediatric and Congenital Heart Disease. 2023; Abstract Full Text Full Text PDF Google Scholar discuss these arrhythmias and their specific management, highlighting the connection between hemodynamics and arrhythmias. Advances in preventing sudden cardiac death in patients with repaired ToF involve proactive risk assessment and management of ventricular arrhythmias. Our understanding of predictive risk factors has improved over the past 25 years, shifting towards personalized risk prediction that incorporates extensive data. Kakarla et al.9Kakarla J. Denham N.C. Ishikita A. Oechslin E. Alonso-Gonzalez R. Nair K. Risk Stratification for Sudden Cardiac Death in Repaired Tetralogy of Fallot.CJC Pediatric and Congenital Heart Disease. 2023; Abstract Full Text Full Text PDF Google Scholar delve into these risk stratification strategies in repaired ToF. Accurate characterization of disease complexity and anatomical repair strategy significantly affects sudden death risk, emphasizing the need for routine risk stratification. This informs primary prevention measures, like defibrillator implantation, and prompts consideration of proactive invasive approaches, including ventricular tachycardia ablation and pulmonary valve replacement. Multidisciplinary teams of congenital heart disease experts play a crucial role in assessing and stratifying risk. Multidisciplinary collaboration is essential to determine optimal surgical and interventional approaches, addressing staged repairs, re-interventions, and pulmonary valve replacement throughout a patient's life. Mosa and collaborators10Tchervenkov C.I. AL Mosa A. Bernier P.L. Considerations in timing of surgical repair in Tetralogy of Fallot.CJC Pediatric and Congenital Heart Disease. 2023; Google Scholar review existing and persisting controversies regarding the timing of primary repair and staged approached in both the asymptomatic and symptomatic patients. The spectrum of transcatheter interventions across the lifespan is discussed by Wong et al.11Wong N. Shorofsky M. Lim D.S. Catheter-based Interventions in Tetralogy of Fallot Across the Lifespan.CJC Pediatric and Congenital Heart Disease. 2023; Abstract Full Text Full Text PDF Google Scholar These treatments are increasingly used before surgical repair, offering palliative procedures through catheter-based methods. Following initial surgical relief of right ventricular outflow tract obstruction, there may still be varying degrees of right ventricular outflow tract obstruction, pulmonary regurgitation, or both. Primary transcatheter pulmonary valve replacement is becoming a viable option, alongside surgical pulmonary valve replacement, due to their similar safety profile and effectiveness. The introduction of self-expanding platforms has expanded the spectrum of patients who can be treated percutaneously. With technological advances and growing expertise, catheter-based interventions are expected to play a greater role in the lifelong management of ToF patients. Vanderlaan and Barron12Vanderlaan RD, Barron DJ. Optimal Surgical Management of Tetralogy of Fallot. CJC Pediatric and Congenital Heart Disease. 2023.Google Scholar outline how the wide clinical spectrum of ToF represents a challenge for optimal surgical management. They discuss how multidisciplinary decision-making is central to an optimal surgical management that will maximize survival, minimize reintervention and preserve right ventricular function across the lifespan. Tetralogy of Fallot require lifelong specialized congenital heart disease care. Mackie and collaborators13Mackie AS, Bravo-Jaimes K, Keir M, Sillman C, Kovacs AH. Access to Specialized Care Across the Lifespan in Tetralogy of Fallot. CJC Pediatric and Congenital Heart Disease. 2023.Google Scholar reviewed how access to such specialized care remains unequal. The reality of inconsistent access to care can paradoxically impact those who need it the most. The authors offer their recommendations on how to improve access to care, which is an essential step in reducing morbidity and improving quality of life. In the last two decades, we have seen a very fortunate paradigm shift of exercise restriction to one of exercise prescription and promotion for patients with congenital heart disease. ToF is no exception. Buchanan and collaborators,14Buchanan M. Spence C. Keir M. Khoury M. Physical Activity Promotion Among Individuals With Tetralogy of Fallot.CJC Pediatric and Congenital Heart Disease. 2023; Abstract Full Text Full Text PDF Google Scholar reviewed the current knowledge on physical activity promotion and offer strategies for improving physical activity in patients with ToF. Ross and Verstappen15Ross S, Verstappen A. The Role of Congenital Heart Disease Patient Organizations in Advocacy, Resources, and Support Across the Lifespan. CJC Pediatric and Congenital Heart Disease. 2023.Google Scholar offer their perspective on how advocacy by patient organizations has had a significant impact on patients’ lives. Speaking with a common voice reflecting lived experience with congenital heart disease, patient organizations can uniquely and successfully influence research priorities, advocate for programs and resources, and help ensure that important issues such as access to care, discrimination and mental health support are prioritized by policy-makers and care providers. ToF is a lifelong chronic condition and a truly integrated lifespan approach has great potential to further our understanding of the various trajectories that these patients follow. Alonso-Gonzalez and collaborators16Alonso-Gonzalez R, Ganni E, Ho S, et al. Tetralogy Of Fallot Across The Lifespan: A Focus On The Right Ventricle. CJC Pediatric and Congenital Heart Disease 2023.Google Scholar provide a comprehensive map of the complex journey of the right ventricle in ToF. They start at the cellular and microarchitectural levels and detail the specificities of the right ventricle, its complex interaction with the left ventricle, and its various mechanisms for adaptation and remodeling in the face of significant residual lesions. They then explore the various tools that are available to identify the often insidious onset of right heart failure, and discuss the current therapies – and their limitations – in dealing with heart failure, or in trying to prevent it. Jacquemyn et al.17Jacquemyn X. Kutty S. Manlhiot C. The Lifelong Impact of Artificial Intelligence and Clinical Prediction Models on Patients With Tetralogy of Fallot.CJC Pediatric and Congenital Heart Disease. 2023; Abstract Full Text Full Text PDF Google Scholar provide an overview of the opportunities and challenges of artificial intelligence and machine learning for the diagnosis and prognostic prediction of patients with ToF. There are several promising developments for machine-learning-based diagnostic aid through the lifespan for patients with congenital heart disease, including patients with ToF. Perhaps the most encouraging and valuable feature of machine learning will be its ability to identify markers of increased long-term risk that are not apparent through traditional analyses, or from datasets too big or too complex to be analyzed by humans. Many hurdles need to be overcome before these tools are incorporated into routine care, but we suspect that early adopters may get a head start in enhancement of patient care when there are so many different patient profiles that need to be considered. In the growing population of adult patients with ToF, many will want to have children. Garagiola and collaborators18Garagiola ML, Thorne SA. Pregnancy Considerations in Tetralogy of Fallot. CJC Pediatric and Congenital Heart Disease. 2023.Google Scholar reviewed how pregnancy-related changes may impact the maternal and fetal risk in patients with ToF. They rightfully underscore that while a personalized approach by a multidisciplinary team optimizes outcome, most patients with ToF will tolerate the cardiovascular demands of pregnancy even in the presence of significant valvular regurgitation. They also review how considerations around reproductive care should start in the teenage years, with age-appropriate discussions regarding fertility, childbearing and contraception. Tetralogy of Fallot is the archetype of the moderately complex congenital disease where huge strides have been made over recent decades such that survival in the contemporary era is excellent. And yet, there is still much to learn and to accomplish so that people living with ToF can enjoy the same quality of life, exercise tolerance and life expectancy as the general population. There is a need for more precise phenotyping of large patient cohorts with lifelong follow-up, with a focus on ventricular structural and functional parameters, reintervention-related morbidity, and patient-reported outcome measures. Priorities should be refinement and improvement of risk stratification, personalization of timing of interventions, optimization of material for valve replacement or reconstruction, and advancing precision medicine and genomics approaches to tailor treatment.
“I must say, about the consequences... oh my god how they spoke about drinking and sex at my last visit! - If you drink alcohol you’re going to die or end up in an emergency room. You are not allowed to get drunk… and if you have unprotected sex you’re going to die… oh my god…it was like they had to tell me everything, it was horrible! But hello, I’m not stupid…it was too much, I was devastated… You have to individualize such information…!” This excerpt is a quotation from an 18-year-old girl diagnosed with congenital heart disease (CHD) when queried about her encounters with the information dispensed prior to her transfer from pediatric cardiology to adult care.1Burstrom A. Bratt E.L. Frenckner B. et al.Adolescents with congenital heart disease: their opinions about the preparation for transfer to adult care.Eur. J. Pediatr. 2017; 176: 881-889Crossref PubMed Scopus (0) Google Scholar It is well-known that adolescents with CHD possess limited knowledge concerning their cardiac condition and the requisite self-care practices.2Van Deyk K. Pelgrims E. Troost E. et al.Adolescents' understanding of their congenital heart disease on transfer to adult-focused care.Am. J. Cardiol. 2010; 106: 1803-1807Abstract Full Text Full Text PDF PubMed Scopus (82) Google Scholar,3Janssens A. Goossens E. Luyckx K. et al.Exploring the relationship between disease-related knowledge and health risk behaviours in young people with congenital heart disease.Eur. J. Cardiovasc. Nurs. 2016; 15: 231-240Crossref PubMed Google Scholar One pivotal factor contributing to this knowledge gap is the tendency to primarily educate and inform parents during childhood, thus inadvertently sidelining the vital role of the afflicted adolescents themselves. However, as these children progress into adolescence, they naturally yearn for and require active involvement in the communication process. As they embark on the journey towards assuming greater responsibility for their own health, it becomes imperative for them to cultivate a profound comprehension of how to maintain good health and guard against potential complications. To enhance the knowledge base of adolescents and young adults with CHD, patient education plays a pivotal role. Research has demonstrated the effectiveness of patient education in elevating the knowledge levels of people with CHD.4Goossens E. Fieuws S. Van Deyk K. et al.Effectiveness of structured education on knowledge and health behaviors in patients with congenital heart disease.J. Pediatr. 2015; 166 (1370-1376 e1371)Abstract Full Text Full Text PDF PubMed Scopus (36) Google Scholar, 5Goossens E. Van Deyk K. Zupancic N. Budts W. Moons P. Effectiveness of structured patient education on the knowledge level of adolescents and adults with congenital heart disease.Eur. J. Cardiovasc. Nurs. 2014; 13: 63-70Crossref PubMed Scopus (0) Google Scholar, 6Ladouceur M. Calderon J. Traore M. et al.Educational needs of adolescents with congenital heart disease: Impact of a transition intervention programme.Arch. Cardiovasc. Dis. 2017; 110: 317-324Crossref PubMed Scopus (34) Google Scholar To bolster this impact, patient education is embedded in structured transition programs. These programs are defined as “a set of co-ordinated transitional care interventions that are provided in a structured albeit individualized way, in order to support the process of the transition to adulthood and achieve the outcomes of transition”.7Moons P. Bratt E.L. De Backer J. et al.Transition to adulthood and transfer to adult care of adolescents with congenital heart disease: a global consensus statement of the ESC Association of Cardiovascular Nursing and Allied Professions (ACNAP), the ESC Working Group on Adult Congenital Heart Disease (WG ACHD), the Association for European Paediatric and Congenital Cardiology (AEPC), the Pan-African Society of Cardiology (PASCAR), the Asia-Pacific Pediatric Cardiac Society (APPCS), the Inter-American Society of Cardiology (IASC), the Cardiac Society of Australia and New Zealand (CSANZ), the International Society for Adult Congenital Heart Disease (ISACHD), the World Heart Federation (WHF), the European Congenital Heart Disease Organisation (ECHDO), and the Global Alliance for Rheumatic and Congenital Hearts (Global ARCH).Eur. Heart J. 2021; 42: 4213-4223PubMed Google Scholar There is an accumulating body of evidence indicating that transition programs augment the level of knowledge of afflicted adolescents.8Mackie A.S. Islam S. Magill-Evans J. et al.Healthcare transition for youth with heart disease: a clinical trial.Heart. 2014; 100: 1113-1118Crossref PubMed Scopus (103) Google Scholar, 9Mackie A.S. Rempel G.R. Kovacs A.H. et al.Transition Intervention for Adolescents With Congenital Heart Disease.J. Am. Coll. Cardiol. 2018; 71: 1768-1777Crossref PubMed Scopus (85) Google Scholar, 10Mackie A.S. Rankin K.N. Yaskina M. et al.Transition Preparation for Young Adolescents with Congenital Heart Disease: A Clinical Trial.J. Pediatr. 2022; 241 (36-41 e32)Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar, 11Bratt E.L. Mora M.A. Sparud-Lundin C. et al.Effectiveness of the STEPSTONES Transition Program for Adolescents With Congenital Heart Disease-A Randomized Controlled Trial.J. Adolesc. Health. 2023; Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar However, it is crucial to acknowledge that improving patient knowledge alone is insufficient as outcome of transition programs. International consensus panels have suggested a comprehensive set of key outcomes to characterize a successful transition. These encompass aspects such as quality of life; self-management; disease knowledge; continuity of care; appropriate healthcare consumption; disease control; access to care/receiving coordinated care; interaction with adult providers; and interaction with peers.12Fair C. Cuttance J. Sharma N. et al.International and Interdisciplinary Identification of Health Care Transition Outcomes.JAMA Pediatr. 2016; 170: 205-211Crossref PubMed Scopus (137) Google Scholar,13Suris J.C. Akre C. Key elements for, and indicators of, a successful transition: an international Delphi study.J. Adolesc. Health. 2015; 56: 612-618Abstract Full Text Full Text PDF PubMed Google Scholar Transitional care interventions should be designed and implemented with these multifaceted goals as the foundation. Nonetheless, it is essential to recognize that these objectives often constitute distant endpoints and may not be promptly attainable. Hence, it is prudent to consider an overarching and more immediate outcome: empowerment. Empowerment has demonstrated associations with numerous other outcomes, including health status, quality of life, and self-care.14Acuna Mora M. Sparud-Lundin C. Moons P. Bratt E.L. Definitions, instruments and correlates of patient empowerment: A descriptive review.Patient Educ. Couns. 2022; 105: 346-355Crossref PubMed Scopus (17) Google Scholar From this perspective, empowerment emerges as a promising and practical outcome measure for transition programs, given its potential to indirectly influence the achievement of more distal objectives.7Moons P. Bratt E.L. De Backer J. et al.Transition to adulthood and transfer to adult care of adolescents with congenital heart disease: a global consensus statement of the ESC Association of Cardiovascular Nursing and Allied Professions (ACNAP), the ESC Working Group on Adult Congenital Heart Disease (WG ACHD), the Association for European Paediatric and Congenital Cardiology (AEPC), the Pan-African Society of Cardiology (PASCAR), the Asia-Pacific Pediatric Cardiac Society (APPCS), the Inter-American Society of Cardiology (IASC), the Cardiac Society of Australia and New Zealand (CSANZ), the International Society for Adult Congenital Heart Disease (ISACHD), the World Heart Federation (WHF), the European Congenital Heart Disease Organisation (ECHDO), and the Global Alliance for Rheumatic and Congenital Hearts (Global ARCH).Eur. Heart J. 2021; 42: 4213-4223PubMed Google Scholar A recent trial in the ‘Swedish Transition Effects Project Supporting Teenagers with chrONic mEdical conditions’ (STEPSTONES) has demonstrated the effectiveness of a transition program to empower young people with CHD.11Bratt E.L. Mora M.A. Sparud-Lundin C. et al.Effectiveness of the STEPSTONES Transition Program for Adolescents With Congenital Heart Disease-A Randomized Controlled Trial.J. Adolesc. Health. 2023; Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar Various methodologies exist for crafting complex interventions like transition programs. One highly effective approach is intervention mapping. Intervention mapping is a systematic method that amalgamates theoretical constructs, insights gleaned from existing literature, and input solicited from engaged stakeholders.15Bartholomew LK, Markham CM, Ruiter R, Fernandez ME, Kok G, Parcel GS. Planning health promotion programs: An intervention mapping approach. 4th ed. San Francisco: Jossey-Bass; 2016.Google Scholar This method allows researchers to create a blueprint of the intervention by illuminating how each component is expected to affect the outcome assessed.16Kok G. Bartholomew L.K. Parcel G.S. Gottlieb N.H. Fernandez M.E. Finding theory- and evidence-based alternatives to fear appeals: Intervention Mapping.Int. J. Psychol. 2014; 49: 98-107Crossref PubMed Scopus (0) Google Scholar This approach not only ensures the theoretical robustness of the intervention but also bolsters its underpinning framework. To the best of my knowledge, the STEPSTONES transition program stands as a unique exemplar developed through the application of intervention mapping.17Acuna Mora M. Saarijarvi M. Sparud-Lundin C. Moons P. Bratt E.L. Empowering Young Persons with Congenital Heart Disease: Using Intervention Mapping to Develop a Transition Program - The STEPSTONES Project.J. Pediatr. Nurs. 2020; 50: e8-e17Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar An alternative way to develop a transition program hinges on the principles of co-design, also known as participatory design. This method revolves around actively engaging all relevant stakeholders in the design process, with the overarching aim of aligning the end product with their specific needs and ensuring its usability. The development of transitional care interventions lends itself particularly well to co-design, as it circumvents potential disparities between patients' desires and requirements and the services provided by healthcare professionals, as elucidated by the quote cited at the beginning of this editorial. A key difference between intervention mapping and co-design is that the former does not necessarily involve patients in the developmental phase, whereas this is a critical element in co-design. In the current issue of CJC Pediatric and Congenital Heart Disease, an article was published elucidating the co-design of a comprehensive transition program for young people with CHD, encompassing essential components.18Hyde E.K. Schultz A.S.H. Ducas R. et al.Multi-stakeholder Recommendations for Supporting Patients and Families Transitioning from Pediatric to Adult Congenital Heart Disease Care.CJC Pediatric and Congenital Heart Disease. 2023; https://doi.org/10.1016/j.cjcpc.2023.08.001Abstract Full Text Full Text PDF Google Scholar The impetus driving this endeavor stemmed from the observation that existing CHD transition programs have, to date, not directly included patients, caregivers, and healthcare providers as active collaborators in their development. The development described here harnessed a patient engagement framework and drew upon insights gleaned from literature reviews concerning patient engagement within the realms of health services research and quality improvement.18Hyde E.K. Schultz A.S.H. Ducas R. et al.Multi-stakeholder Recommendations for Supporting Patients and Families Transitioning from Pediatric to Adult Congenital Heart Disease Care.CJC Pediatric and Congenital Heart Disease. 2023; https://doi.org/10.1016/j.cjcpc.2023.08.001Abstract Full Text Full Text PDF Google Scholar The co-design process has unveiled pivotal facets pertaining to "The What," "The Who," "The When," and "The How" of providing information, education, and support during the transition process of adolescents with CHD. It has been collectively affirmed by patients, caregivers, and healthcare providers that the provision of support is an imperative cornerstone, serving as a catalyst for the empowerment of patients in taking ownership of their healthcare and life. This support includes a spectrum of self-management skills such as monitoring symptoms, career planning, and lifestyle considerations, as well as knowledge about their specific heart defect. The responsibility for providing information and education falls on the healthcare team, with nurses and social workers playing crucial roles. Peer support was also considered of significant value, providing a platform for patients and caregivers to connect with others who understand the unique challenges of living with CHD.18Hyde E.K. Schultz A.S.H. Ducas R. et al.Multi-stakeholder Recommendations for Supporting Patients and Families Transitioning from Pediatric to Adult Congenital Heart Disease Care.CJC Pediatric and Congenital Heart Disease. 2023; https://doi.org/10.1016/j.cjcpc.2023.08.001Abstract Full Text Full Text PDF Google Scholar This co-designed transition program unequivocally reinforces the imperative shift from a paradigm of mere information dissemination to one of empowerment. Healthcare professionals involved in the care of young people with CHD have the pivotal duty to enable and equip young persons with the tools, knowledge, resources, or confidence needed to shape and improve their future in a positive and self-determined way. It implies fostering a sense of self-efficacy, independence, and the ability to make choices that lead to better outcomes. Should clinicians effectively facilitate the process of these young patients assuming control over their healthcare decisions and overall well-being as they navigate the multifaceted challenges of managing their condition in the realm of adulthood, they unequivocally contribute to 'Empowering the future'. The author has no conflict of interest No funding
The QT interval is an electrocardiographic representation of ventricular depolarization and repolarization. A prolonged QT interval represents a prolonged action potential of ventricular myocytes and is mediated by an increase in inward current of sodium or calcium channels or a decrease in outward current through potassium channels. Initial assessments aim to differentiate congenital versus acquired long QT syndrome as subsequent investigation and management will differ based on the etiology of the QT prolongation. Acquired long QT syndrome is characterized by prolongation of the corrected QT interval (QTc) which is typically due electrolyte imbalances, pharmaceutical influences, and certain medical conditions.1Kallergis E.M. Goudis C.A. Simantirakis E.N. Kochiadakis G.E. Vardas P.E. Mechanisms, risk factors, and management of acquired long QT syndrome: A comprehensive review.ScientificWorldJournal. 2012; 2012212178Crossref Scopus (131) Google Scholar There may also be genetic predispositions which can influence the development of acquired long QT syndrome by providing a substrate for vulnerability.1Kallergis E.M. Goudis C.A. Simantirakis E.N. Kochiadakis G.E. Vardas P.E. Mechanisms, risk factors, and management of acquired long QT syndrome: A comprehensive review.ScientificWorldJournal. 2012; 2012212178Crossref Scopus (131) Google Scholar Acquired long QT syndrome is associated with an established risk of syncope, sudden cardiac arrest and sudden cardiac death due to a potentially lethal arrhythmia called Torsades de Pointes that can degenerate into ventricular fibrillation. The finding of a prolonged QTc interval in any clinical setting should trigger further evaluation and a search for underlying causes. A prolonged QTc interval has been proposed as a risk for cardiovascular death in patients with an eating disorder including anorexia nervosa and bulimia nervosa. It is an important question whether patients with eating disorders are more prone to develop a prolonged QTc or if their risk is comparable to the general population. Studies have shown conflicting evidence of rate of cardiac events and its relation to baseline QTc in patients with eating disorders.2Frederiksen T.C. Christiansen M.K. Østergaard P.C. et al.QTc Interval and risk of cardiac events in adults with anorexia nervosa.Circ Arrhythm Electrophysiol. 2018; 11e005995Crossref Scopus (7) Google Scholar A more recent and large population cohort study in 2020 by Krantz et al.3Krantz M.J. Blalock D.C. Tanganyika K. et al.Is QTc-interval prolongation an inherent feature of eating disorders? A cohort study.Am J Med. 2020; 133: 1088-1094Abstract Full Text Full Text PDF PubMed Scopus (19) Google Scholar assessed QTc prolongation in 1,026 adults with anorexia nervosa and bulimia nervosa. The incidence of prolonged QTc >450ms was found in 12% of subjects and only 1.2% had markedly prolonged QTc >500ms.3Krantz M.J. Blalock D.C. Tanganyika K. et al.Is QTc-interval prolongation an inherent feature of eating disorders? A cohort study.Am J Med. 2020; 133: 1088-1094Abstract Full Text Full Text PDF PubMed Scopus (19) Google Scholar They concluded that QTc prolongation was not intrinsic to eating disorders as marked prolongation occurred only in patients with extrinsic factors, particularly Ikr-inhibiting drugs and electrolyte disturbances.3Krantz M.J. Blalock D.C. Tanganyika K. et al.Is QTc-interval prolongation an inherent feature of eating disorders? A cohort study.Am J Med. 2020; 133: 1088-1094Abstract Full Text Full Text PDF PubMed Scopus (19) Google Scholar Studies have tried to elucidate the etiology of a prolonged QTc interval and QT dispersion in patients with eating disorders, but data has been inconsistent. Risk assessment for cardiac events in patients with eating disorders remains unclear because QT prolongation does not correlate with markers of disease severity such as body mass index, left ventricular mass, left ventricular mass index or resting energy expenditure.4Krantz M. Sabel A. et al.Factors influencing QT prolongation in patients hospitalized with severe anorexia nervosa.Gen Hosp Psychiatry. 2012; 34: 173-177Crossref PubMed Scopus (31) Google Scholar In the adult population, while long term follow up in patients with anorexia nervosa demonstrated a higher risk of cardiac events and all-cause mortality compared to healthy controls, it did not correlate with the baseline QTc interval.2Frederiksen T.C. Christiansen M.K. Østergaard P.C. et al.QTc Interval and risk of cardiac events in adults with anorexia nervosa.Circ Arrhythm Electrophysiol. 2018; 11e005995Crossref Scopus (7) Google Scholar Benayon et al.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar conducted a retrospective analysis of 264 patients aged 7 to 17 years who were diagnosed with an eating disorder. Relevant clinical and laboratory data and electrocardiograms from their initial visit were collected. A QT interval corrected for heart rate using the Bazett formula was calculated. They defined a QTc of >460ms as prolonged, 440-460ms as borderline prolonged, and <440ms as normal. ECG parameters, electrolyte values, and use of QTc-prolonging antidepressants and/or antipsychotics were analyzed to determine whether extrinsic factors influenced QTc interval prolongation rather than factors inherent to the patient’s eating disorder. The electrolyte values were taken at the time closest to the performance of the ECG. Their cohort had a mean age of 14±2 years, mean heart rate 66±16 bpm and were 90.5% female. The mean QTc was 411±26ms with a range of 347-483ms.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar The authors found that the prevalence of a QTc >440ms in their study population of children with eating disorders without electrolyte abnormalities or psychotropic medication use (10.1%) was similar to that of a large adult cohort study (8.7%) with a sample size of 36,301.6Montanez A. Ruskin J.N. Hebert P.R. Lamas G.A. Hennekens C.H. Prolonged QTc interval and risks of total and cardiovascular mortality and sudden death in the general population: A review and qualitative overview of the prospective cohort studies.Arch Intern Med. 2004; 164: 943-948Crossref PubMed Scopus (0) Google Scholar There was no association between QTc prolongation and electrolyte abnormalities in the pediatric cohort reported by Benayon et al.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar Importantly, the use of psychotropic medications (9% of the cohort) had an association with a longer QTc interval, with 34.8 vs 12% and 21.7 vs 2.5% having a QTc >440 and >460ms, respectively. Logistic regression modeling demonstrated that the use of psychotropic medications was associated with borderline prolonged and prolonged QTc intervals in the cohort. These results suggest that eating disorders in children alone may not lead to QTc interval prolongation, however, concurrent use of QTc prolonging medications may be an important factor in the finding of prolonged QTc intervals in children with eating disorders. The study by Benayon et al.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar is the largest known retrospective analyses of QTc interval prolongation in children with eating disorders. The study attempted to isolate the influence of an eating disorder from the extrinsic factors that are commonly known to prolong QTc intervals to determine the relative influence of each on QTc prolongation in children with eating disorders. This study has limitations that are worth further discussion, which relate primarily to the retrospective design and the presumably small sample sizes if the authors were to attempt to compare additional subgroups. The population was generalized as having eating disorders instead of separately analyzing disease processes (anorexia nervosa and bulimia nervosa) that may influence QTc intervals differently.3Krantz M.J. Blalock D.C. Tanganyika K. et al.Is QTc-interval prolongation an inherent feature of eating disorders? A cohort study.Am J Med. 2020; 133: 1088-1094Abstract Full Text Full Text PDF PubMed Scopus (19) Google Scholar The effect of puberty was not taken into account, but it is known that sex hormones act as modulators of ventricular repolarization through regulation of ionic currents. Testosterone has a QTc shortening effect with the QTc interval in males shortening during puberty while remaining unchanged in females during puberty.7Pham T. Gender differences in cardiac development: are hormones at the heart of the matter?.Cardiovasc Res. 2003; 57: 591-593Crossref Scopus (5) Google Scholar,8Rautaharju P.M. Zhou S.H. Wong S. et al.Sex differences in the evolution of the electrocardiographic QT interval with age.Can J Cardiol. 1992; 8: 690-695PubMed Google Scholar Correct timing of QT interval measurement is crucial in assessing the influence with different factors such as electrolyte imbalances, acute/chronic intake of psychotropic drugs or significant clinical changes in eating disorder severity. Of note, there was missing data regarding electrolytes in 12.5% of the cohort with varied intervals between electrolyte measurement and ECG correlation. Data regarding psychotropic drug intake, dosage or documentation of QT interval changes before and after initiation of psychotropic drugs was unavailable. It is common to have sinus bradycardia in patients with eating disorders. The Bazett formula, while considered by many as the standard, leads to over-correction of QT intervals in bradycardia. Other formulae such as Hodges and Fridericia’s formula can be used and may be more accurate in this setting.9Patel P.J. Borovskiy Y. Killian A. et al.Optimal QT interval correction formula in sinus tachycardia for identifying cardiovascular and mortality risk: Findings from the Penn Atrial Fibrillation Free study.Heart Rhythm. 2016; 13: 527-535Abstract Full Text Full Text PDF PubMed Google Scholar,10Orchard J.J. Orchard J.W. Raju H. et al.Analysis of athlete QT intervals by age: Fridericia and Hodges heart rate corrections outperform Bazett for athlete ECG screening.J Electrocardiol. 2022; 74: 59-64Crossref Scopus (1) Google Scholar Lastly, the presence of cardiovascular events was not documented or associated with prolonged QTc in this population; an area that can be explored in future studies. Overall, the study by Benayon et al.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar supports the theory that external factors, particularly the use of QT-prolonging psychotropic medications, are the primary cause of prolonged QTc in the pediatric eating disorder population. This study emphasizes the need for QTc monitoring of patients taking psychotropic drugs in the setting of eating disorders. Whether patients with eating disorders are more susceptible to QT-prolonging effects of medications is an area that requires further study. Mortality associated with eating disorders is largely cardiovascular in origin and prolonged QTc has been one of the significant cardiac findings.11Jauregui-Garrido B. Jauregui-Lobera I. Sudden death in eating disorders.Vasc Health Risk Manag. 2012; 8: 91-98Crossref PubMed Scopus (66) Google Scholar The retrospective analysis by Benayon et al.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar emphasizes that a prolonged QTc interval is most likely related to acquired causes and is not an inherent feature of eating disorders. In patients with eating disorders, attention should be given to reversible factors including electrolyte abnormalities and use of QT prolonging medications. The results of the study by Benayon et al.5Benayon M, Latchupatula L, Kacer E, et al. QTc prolongation and its association with electrolyte abnormalities and psychotropic drug use among eating disorders. CJC Pediatric and Congenital Heart Disease, 2023.Google Scholar highlight the importance of QTc surveillance and appropriate management of potential causes of acquired QTc in children with eating disorders. Lastly, it is important to consider that bradycardia, a common finding in eating disorders, can confound the QTc calculation when using Bazett formula and alternative formulae may be considered in this setting to avoid overcorrection of the QTc.
The sodium-glucose cotransporter 2 inhibitor (SGLT2i) is one of the cornerstones of guideline-directed medical therapy for heart failure and has been shown to reduce the risk of mortality and heart failure hospitalization, and improve functional status and quality of life in patients with heart failure.1McMurray J.J.V. Solomon S.D. Inzucchi S.E. et al.Dapagliflozin in patients with heart failure and reduced ejection fraction.N Engl J Med. 2019; 381: 1995-2008Crossref PubMed Scopus (3851) Google Scholar However, there are limited data about the safety and clinical benefits (or lack thereof) of SGLT2i for the management of heart failure in adults with congenital heart disease (CHD), even though heart failure is the leading cause of mortality in this population.2Egbe A.C. Miranda W.R. Jain C.C. et al.Incidence and outcomes of advanced heart failure in adults with congenital heart disease.Circ Heart Fail. 2022; 15e009675Crossref Scopus (5) Google Scholar,3Egorova A.D. Nederend M. Tops L.F. et al.The first experience with sodium-glucose cotransporter 2 inhibitor for the treatment of systemic right ventricular failure.ESC Heart Fail. 2022; 9: 2007-2012Crossref PubMed Scopus (0) Google Scholar The purpose of this study was to describe the outcomes and safety of SGLT2i in adults with CHD and heart failure. We identified adults with CHD and heart failure who received SGLT2i (2018-2022) for >12 months without surgical or transcatheter intervention in the course of SGLT2i therapy. The primary outcome was improvement in functional status defined as change in (Δ) New York Heart Association (NYHA) class. The secondary outcomes were (1) Δ N-terminal prohormone brain natriuretic peptide (NT-proBNP), (2) Δ estimated glomerular filtration rate (eGFR), (3) Δ model for end-stage liver disease excluding international normalized ratio (MELD-XI) score, and (4) Δ systemic ventricular global longitudinal strain based on offline image analysis. See Supplemental Appendix S1 for details of patient selection and CHD diagnosis. Of 437 adult patients with CHD and heart failure, 24 (6%) met the study inclusion criteria (age 54 ± 13 years, 17 men [71%], systemic left ventricle [LV] 19 [79%], and diabetes 21 [88%]; Table 1).Table 1Baseline characteristicsCharacteristicsBaseline (n = 24)Follow-up (n = 24)PAge (y)54 ± 1355 ± 11Male, n (%)17 (71)17 (71)Systemic left ventricle, n (%)19 (79)19 (79)Systolic blood pressure (mm Hg)129 ± 11122 ± 140.3Weight (kg)89 ± 1781 ± 140.1Body mass index (kg/m2)28.6 ± 3.128.2 ± 2.90.4Comorbidities, n (%) Hypertension20 (83)20 (83)0.9 Diabetes21 (88)21 (88)0.9 Coronary artery disease13 (54)13 (54)0.9Medications, n (%) β-Blockers24 (100)24 (100)0.9 ACEI/ARB22 (92)22 (92)0.9 ARNI2 (8)2 (8)0.9 Mineralocorticoid receptor antagonist14 (58)14 (58)0.9 Loop diuretics20 (83)18 (75)0.6Laboratory data eGFR (mL/min/1.73 m2)74 (63-101)88 (69-124)0.009 NT-proBNP (pg/mL)803 (416-1585)611 (309-1214)0.006 MELD-XI score10.6 (9.7-12.1)10.1 (9.4-11.4)0.08 Fasting glucose (mg/dL)98 ± 891 ± 60.2 Haemoglobin A1C7.2 ± 1.26.5 ± 0.90.1NYHA, n (%)<0.001 I09 (38) II10 (42)9 (38) III10 (42)4 (17) IV4 (17)2 (8)Echocardiogram (systemic LV) Patients with systemic RV, n (%)19 (79)Systemic LV GLS (%)−15 ± 3−17 ± 40.07Systemic LV EF (%)44 ± 1147 ± 100.2Nonsystemic RV GLS (%)−22 ± 5−25 ± 50.1Nonsystemic RV FAC (%)38 ± 741 ± 100.3 Patients with systemic RV, n (%)5 (21)Systemic RV GLS (%)−12 ± 3−14 ± 40.2Systemic RV FAC (%)26 ± 928 ± 100.5Nonsystemic LV GLS (%)−17 ± 4−16 ± 40.8Nonsystemic LV EF (%)58 ± 1155 ± 90.7ACEI/ARB, angiotensin-converting enzyme inhibitor/angiotensin-II receptor blocker; ARNI, angiotensin receptor neprilysin inhibitor; EF, ejection fraction; eGFR, estimated glomerular filtration rate; FAC, fractional area change; GLS, global longitudinal strain; LV, left ventricle; MELD-XI, model for end-stage liver disease excluding international normalized ratio; NT-proBNP, N-terminal prohormone brain natriuretic peptide; NYHA, New York Heart Association; RV, right ventricle. Open table in a new tab ACEI/ARB, angiotensin-converting enzyme inhibitor/angiotensin-II receptor blocker; ARNI, angiotensin receptor neprilysin inhibitor; EF, ejection fraction; eGFR, estimated glomerular filtration rate; FAC, fractional area change; GLS, global longitudinal strain; LV, left ventricle; MELD-XI, model for end-stage liver disease excluding international normalized ratio; NT-proBNP, N-terminal prohormone brain natriuretic peptide; NYHA, New York Heart Association; RV, right ventricle. The following SGLT2i agents were used: empagliflozin 10 mg (n = 10, 41%), empagliflozin 25 mg (n = 5, 21%), and dapagliflozin 10 mg (n = 9, 38%). The median interval between baseline and follow-up assessments (ie, duration of therapy) was 19 (14-31) months. Compared with baseline indices, we observed a temporal reduction in the proportion of patients who were symptomatic (NYHA III/IV n = 14 [58%] vs NYHA III/IV n = 6 [25%], P = 0.01) and a temporal improvement in neurohormonal activation (ΔNT-proBNP −192 [95% confidence interval (CI): −311 to −105] pg/mL, P = 0.006) and renal function (ΔeGFR 14 [6-22] mL/min/1.73 m2, P = 0.09). However, there was no significant change in hepatorenal function (ΔMELD-XI score) or systemic ventricular function (Table 1). Compared with patients with systemic right ventricle (n = 5, 21%), those with systemic LV (n = 19, 79%) had a similar temporal change in outcomes: ΔNT proBNP (−216 [95% CI: −283 to −141] vs −181 [95% CI: −273 to −94], P = 0.1) and ΔeGFR (16 [11-22] vs 13 [8-19], P = 0.4). Compared with patients with systemic LV ejection fraction <50% (n = 13, 54%), those with systemic LV ejection fraction ≥50% (n = 6, 25%) had a similar temporal change in outcomes: ΔNT proBNP (−198 [95% CI: −304 to −122] vs −235 [95% CI: −298 to −101], P = 0.3) and ΔeGFR (12 [7-19] vs 15 [9-22], P = 0.3). With regards to safety end points, there was no renal adverse event, fasting hypoglycaemia, or major hypoglycaemic event. In conclusion, SGLT2i, used in conjunction with other medical therapy for heart failure, was associated with improvement in functional status, neurohormonal activation, and renal function. The Mayo Clinic Institutional Review Board appropriate study, and study adhered to the guidelines of this board. The authors confirm that patient consent is not applicable to this article. This is a retrospective chart review. ACE is supported by National Heart, Lung, and Blood Institute (NHLBI) grants (R01 HL158517 and R01 HL160761). The MACHD Registry is supported by the Al-Bahar Research grant.
Like every other prevalent disease process, cardiovascular diseases pose a great risk for the morbidity and mortality of human beings. Pediatric cardiovascular disease (CVD) represents a broad spectrum of disorders that affect both the heart and blood vessels in the pediatric population. There have been several epidemiological studies done to highlight the prevalence and incidence of various pediatric CVDs, emphasizing the impact on global child health. Notably, congenital heart defects, acquired heart diseases, and cardiomyopathies contribute to the majority of pediatric CVDs. Understanding the prevalence and distribution of these conditions is important for resource allocation and healthcare planning.
 Similarly, several risk factors contribute to the development and progression of pediatric CVD. Genetic predisposition, prenatal exposures, environmental factors, and lifestyle choices all play pivotal roles. Identifying and addressing these risk factors is essential for early intervention and preventive strategies.
 However, advances in diagnostic modalities have revolutionized the assessment of pediatric CVD. Non-invasive imaging techniques, genetic testing, and biomarker analyses enable earlier and more accurate detection, facilitating timely intervention and personalized treatment plans. Additionally, emerging therapeutic approaches, including innovative medical interventions and surgical techniques, are transforming the landscape of pediatric CVD management. This abstract aims to serve as a concise resource for clinicians, researchers, and physicians interested in pediatric cardiovascular health. By understanding the epidemiology, recognizing key risk factors, and staying aware of the emerging trends in diagnosis and management, people can contribute to improved outcomes and enhanced quality of life for children affected by cardiovascular diseases.
Survivorship from congenital heart disease has improved rapidly secondary to advances in surgical and medical management. Because these patients are living longer, treatment and disease surveillance targets have shifted toward enhancing quality of life and functional status. Cardiopulmonary exercise testing is a valuable tool for assessing functional capacity, evaluating cardiac and pulmonary pathology, and providing guidance on prognosis and interventional recommendations. Despite the extensive evidence supporting the ability of cardiopulmonary exercise testing to quantitatively evaluate cardiovascular function, there remains confusion on how to properly interpret cardiopulmonary exercise testing in patients with congenital heart disease. The purpose of this statement is to provide a lifespan approach to the interpretation of cardiopulmonary exercise testing in patients with congenital heart disease. This is an updated report of the American Heart Association's previous publications on exercise in children. This evidence-based update on the significance of cardiopulmonary exercise testing findings in pediatric, adolescent, and adult patients with various congenital cardiac pathologies and surgically modified physiology is formatted in a way to guide cardiopulmonary exercise testing interpretation practically for the clinicians and exercise physiologists who care for patients with congenital heart disease. Focus is placed on the indications for exercise testing, expected findings, and how exercise testing should guide the management of patients with various congenital heart disease subtypes. Areas for future intervention that could lead to improved care and outcomes for those with congenital heart disease are noted.
BACKGROUND: Congenital heart disease (CHD) survivors often suffer from impaired health-related quality of life (HRQoL), requiring cardiac rehabilitation (CR) as an additional intervention. CR involves various modalities and has been demonstrated to reduce mortality and improve HRQoL in cardiovascular diseases. However, there is a lack of systematic analysis and summary of the accumulated literature on cardiac rehabilitation for congenital heart disease (CRfCHD). This study aimed to provide a comprehensive overview of the literature on cardiac rehabilitation for congenital heart disease. By analyzing research trends and hotspots, it also sought to highlight key developments and suggest future directions in this growing field. METHODS: A systematic search of the Web of Science Core Collection was performed to identify publications related to CRfCHD. Bibliometric tools, including CiteSpace and VOSviewer, were used to visualize co-authorship networks, keyword clusters, and citation patterns. RESULTS: A total of 218 articles were included in the analysis. The number of research papers on CRfCHD has shown an increasing trend over time, with a significant rise in publications since 2019. The United States has the highest number of publications, while the most cited paper focuses on the effects of physical exercise training in CHD patients. Keyword analysis reveals hotspots in the field such as congenital heart disease, physical activity, children, and adolescents. CONCLUSION: This bibliometric study analyzed the development of CRfCHD from 2003 to 2022, and overviewed the evolution and frontiers in this promising field. Future research should focus on developing comprehensive and effective CRfCHD programs. Home-based cardiac rehabilitation and mental health research in CHD patients require more attention.
INTRODUCTION: Congenital heart disease (CHD) is the most frequent birth defect. As survival has significantly improved, attention has turned to neurodevelopmental outcomes of children undergoing heart surgery in early infancy. Since multiple risk factors contribute to neurodevelopmental alterations, a nationwide registry collecting data on medical characteristics, interventions, clinical course and neurodevelopment until school-age is needed to improve the quality of management, identify risk- and protective factors affecting neurodevelopment, and facilitate multicentre trials. METHODS AND ANALYSIS: The Swiss Outcome Registry for CHIldren with severe congenital heart Disease (ORCHID) is a nationwide, prospective, population-based patient registry developed (1) to collect baseline characteristics and clinical data of CHD patients operated with bypass-surgery or hybrid procedures in the first 6 weeks of life in Switzerland, (2) to monitor long-term neurodevelopment, and (3) to relate clinical characteristics and neurodevelopment to identify risk and protective factors in these children. This registry started data collection relating to pregnancy, birth, preoperative course, catheter-based and surgical treatment, postoperative course and reinterventions in 2019. The primary outcome includes standardised neurodevelopmental assessments at 9 to 12 months, 18 to 24 months and 5.5 to 6 years. We expect to include 80 to 100 children per year. Correlation and regression analyses will be used to investigate risk- and protective factors influencing neurodevelopment. ETHICS AND DISSEMINATION OF RESULTS: Swiss ORCHID received support by the Accentus Charitable Foundation, the Anna Mueller Grocholoski Stiftung, the Swiss Society of Paediatric Cardiology, the Verein Kinderherzforschung, and the Corelina - Stiftung für das Kinderherz, and was approved by the cantonal ethics committees. Findings will be presented at national and international scientific meetings, and published in peer-reviewed journals. Results will also be shared with patient organizations, primary health care providers, and public health stakeholders to ensure a widespread dissemination of the results.
Many children and adolescents with congenital and acquired heart disease (CHD) are physically inactive and participate in an insufficient amount of moderate-to-vigorous intensity exercise. Although physical activity (PA) and exercise interventions are effective at improving short- and long-term physiological and psychosocial outcomes in youth with CHD, several barriers including resource limitations, financial costs, and knowledge inhibit widespread implementation and dissemination of these beneficial programs. New and developing eHealth, mHealth, and remote monitoring technologies offer a potentially transformative and cost-effective solution to increase access to PA and exercise programs for youth with CHD, yet little has been written on this topic. In this review, a cardiac exercise therapeutics (CET) model is presented as a systematic approach to PA and exercise, with assessment and testing guiding three sequential PA and exercise intervention approaches of progressive intensity and resource requirements: (1) PA and exercise promotion within a clinical setting; (2) unsupervised exercise prescription; and (3) medically supervised fitness training intervention (i.e., cardiac rehabilitation). Using the CET model, the goal of this review is to summarize the current evidence describing the application of novel technologies within CET in populations of children and adolescents with CHD and introduce potential future applications of these technologies with an emphasis on improving equity and access to patients in low-resource settings and underserved communities.
Paediatric and congenital heart disease (PCHD) is common but remains forgotten on the global health agenda. Congenital heart disease is the most frequent major congenital anomaly, affecting approximately 1 in every 100 live births. In high-income countries, most children now live into adulthood, whereas in low- and middle-income countries, over 90% of patients do not get the care they need. Rheumatic heart disease is the most common acquired cardiovascular disease in children and adolescents. While almost completely eradicated in high-income countries, over 30-40 million people live with rheumatic heart disease in low- and middle-income countries. Challenges exist in the care for PCHD and, increasingly, adult congenital heart disease (ACHD) worldwide. In this review, we summarize the current status of PCHD and ACHD care through the health systems lens of workforce, infrastructure, financing, service delivery, information management and technology, and governance. We further highlight gaps in knowledge and opportunities moving forward to improve access to care for all those living with PCHD or ACHD worldwide.
BACKGROUND: Brain injury and neurodevelopmental impairment remain a concern in children with complex congenital heart disease (CHD). A practice guideline on neuromonitoring, neuroimaging, and neurodevelopmental follow-up in CHD patients undergoing cardiopulmonary bypass surgery is lacking. The aim of this survey was to systematically evaluate the current practice in centers across Europe. METHODS: An online-based structured survey was sent to pediatric cardiac surgical centers across Europe between April 2019 and June 2020. Results were summarized by descriptive statistics. RESULTS: Valid responses were received by 25 European centers, of which 23 completed the questionnaire to the last page. Near-infrared spectroscopy was the most commonly used neuromonitoring modality used in 64, 80, and 72% preoperatively, intraoperatively, and postoperatively, respectively. Neuroimaging was most commonly performed by means of cranial ultrasound in 96 and 84% preoperatively and postoperatively, respectively. Magnetic resonance imaging was obtained in 72 and 44% preoperatively and postoperatively, respectively, but was predominantly reserved for clinically symptomatic patients (preoperatively 67%, postoperatively 64%). Neurodevelopmental follow-up was implemented in 40% of centers and planned in 24%. CONCLUSIONS: Heterogeneity in perioperative neuromonitoring and neuroimaging practice in CHD in centers across Europe is large. The need for neurodevelopmental follow-up has been recognized. A clear practice guideline is urgently needed. IMPACT: There is large heterogeneity in neuromonitoring, neuroimaging, and neurodevelopmental follow-up practices among European centers caring for neonates with complex congenital heart disease. This study provides a systematic evaluation of the current neuromonitoring, neuroimaging, and neurodevelopmental follow-up practice in Europe. The results of this survey may serve as the basis for developing a clear practice guideline that could help to early detect and prevent neurological and neurodevelopmental sequelae in neonates with complex congenital heart disease.
Evidence from medicine and other fields has shown that gender diversity results in better decision making and outcomes. The incoming workforce of congenital heart specialists (especially in pediatric cardiology) appears to be more gender balanced, but past studies have shown many inequities. Gender-associated differences in leadership positions, opportunities presented for academic advancement, and recognition for academic contributions to the field persist. In addition, compensation packages remain disparate if evaluated based on gender with equivalent experience and expertise. This review explores these inequities and has suggested individual and institutional changes that could be made to recruit and retain women, monitor the climate of the institution, and identify and eliminate bias in areas like salary and promotions.
Conduction system pacing involving either His bundle pacing (HBP) or left bundle branch pacing (LBBP) is a modality that has been introduced as a safe and effective alternative to right ventricular (RV) pacing to help prevent pacemaker-associated cardiomyopathy. While HBP has been employed in the pediatric and congenital populations, several small studies have shown LBBP to be safe and effective in the pediatric population. We present a patient with congenital atrioventricular block and postoperative ventricular septal defect repair cardiomyopathy with subsequent left ventricular function improvement following a transition from an RV epicardial pacemaker system to an LBBP system. This case report serves as a foundation for a review of the current state of LBBP in pediatrics and congenital heart disease.
Background: While communicable diseases have long been the primary focus of healthcare in Africa, the rising impact of paediatric and congenital heart disease (CHD) cannot be overlooked. This research aimed to estimate the frequency and pattern of heart diseases in children who underwent their first echocardiography at a national cardiac referral hospital in Tanzania. Methods: A retrospective observational study was conducted on children aged 0 to 18 years referred for first-time cardiological evaluation from January 2017 to December 2022. Retrieval of social and echocardiogram data and descriptive analysis were performed. Results: There were 6,058 children with complete reports. Of these, 52.8% (3,198) had heart disease, of whom 2,559 (80%) had CHD, while (340/639; 53.2%) with acquired heart disease (AHD) had rheumatic heart disease (RHD). Children with CHD had a median age 1.0 years (IQR: 0.3-3.5) and were predominantly 51.2% male. Children with RHD had a median age 9.7 years (IQR: 3.2-13.8) with equal gender distribution. Shunt lesions were common in 1,487 (58.1%), mainly VSD 19.3%, PDA 19.1%, ASD 15.1%, and atrioventricular septal defect (AVSD) 4.6%. Pulmonary valve stenosis was in 97 (3.8%). Around 35% (718) had cyanotic CHD, with TOF being most common (13.3%), followed by double outlet right ventricle (DORV) (3.6%). Compared to global average truncus arteriosus was higher in 69 (2.3%) children. In contrast, TGA and hypoplastic left heart syndrome (HLHS) were lower than the estimated global average seen in 2.3% and 0.5% of the cases, respectively. Atresia of the right-side valves was more common (174 vs. 24), and approximately 40% of the patients referred for first-time echocardiographic evaluation required hospitalization. Conclusion: Congenital heart disease is the primary cause of heart disease in children presenting at a national referral hospital, surpassing RHD. With its distinct distribution pattern, acyanotic lesions are more frequent than cyanotic heart diseases. The observed late referral tendencies suggest improving the referral system, enhancing CHD awareness among healthcare professionals, and instituting nationwide screening programs.
Physical activity participation is critical for optimal physical, psychological, and cognitive health in children and adults living with congenital heart disease (CHD). Majority of the general population are not sufficiently active, and with the added psychological, physical, and socioeconomic barriers faced by individuals with CHD, it is unsurprising that many people living with CHD do not meet the recommendations for physical activity either. The aim of this review is to outline lifelong physical activity barriers faced by individuals living with CHD and provide age-appropriate strategies that can be used to ensure the development of long-term positive physical activity behaviours. Barriers to physical activity include safety fears, lack of encouragement, low exercise self-efficacy, body image concerns, limited education, socioeconomic status, reduced access to resources, and cardiac diagnosis and severity. These barriers are multifaceted and often begin in early childhood and continue to develop well into adulthood. Therefore, it is important for children to participate in physical activity from early stages of life as it has been shown to improve cardiorespiratory fitness, muscular endurance, and quality of life. Current literature demonstrates that participation in physical activity and higher intensity exercise after appropriate screening is safe and should be encouraged rather than dissuaded in people born with a congenital heart condition.
Congenital heart disease (CHD) is the most common major congenital anomaly, affecting one in every 100 live births. Whereas over 90% of children born with CHD in low- and middle-income countries cannot access the care they need, early detection, advances in management, and financial risk protection have resulted in over 90% of children with CHD in high-income countries surviving into adulthood. Despite the presence of universal health coverage, barriers to accessing high-quality cardiovascular and non-cardiovascular care for CHD remain common. Lower socioeconomic status has been associated with differential access to cardiac care and poorer outcomes across multiple cardiovascular conditions and subspecialties. In this review article, we describe the relationship between socioeconomic status and access to CHD care in countries with universal health coverage models. We further evaluate notable challenges and opportunities to improve equitable, high-quality CHD care in these countries.
Congenital heart disease (CHD), the most common congenital anomaly, remains a significant lifelong burden despite advancements in medical and surgical interventions. Induced pluripotent stem cells (iPSCs) have emerged as a groundbreaking platform in CHD research, offering patient-specific models to investigate the genetic, epigenetic, and molecular mechanisms driving the disease. Utilizing technologies such as CRISPR/Cas9 gene editing, cardiac organoids, and high-throughput screening, iPSCs enable innovative strategies in disease modeling, precision drug discovery, and regenerative therapies. However, clinical translation faces challenges related to immaturity, differentiation variability, large-scale feasibility, and tumorigenicity. Addressing these barriers will require standardized protocols, bioengineering solutions, and interdisciplinary collaboration. This review examines the critical role of iPSCs in advancing CHD research and care, demonstrating their potential to revolutionize treatment through patient-specific, regenerative approaches. By addressing current limitations and advancing iPSC technology, the field is positioned to pave the way for precision-based CHD therapies for this lifelong condition.
Three-dimensional (3D) printing technology has become increasingly used in the medical field, with reports demonstrating its superior advantages in both educational and clinical value when compared with standard image visualizations or current diagnostic approaches. Patient-specific or personalized 3D printed models serve as a valuable tool in cardiovascular disease because of the difficulty associated with comprehending cardiovascular anatomy and pathology on 2D flat screens. Additionally, the added value of using 3D-printed models is especially apparent in congenital heart disease (CHD), due to its wide spectrum of anomalies and its complexity. This review provides an overview of 3D-printed models in pediatric CHD, with a focus on educational value for medical students or graduates, clinical applications such as pre-operative planning and simulation of congenital heart surgical procedures, and communication between physicians and patients/parents of patients and between colleagues in the diagnosis and treatment of CHD. Limitations and perspectives on future research directions for the application of 3D printing technology into pediatric cardiology practice are highlighted.
Background: Although several National Data Registries for Congenital Heart Disease (CHD) exist, few are comprehensive and contemporary. A National Australian CHD Registry has been developed that aims to redress this by creating the first comprehensive data collection for CHD children and adults, initially across Australia. Methods: We defined and collected a minimum dataset of demographics, diagnoses, and procedures from people with CHD presenting at participating quaternary CHD services Australia-wide. Data were collected from a range of clinical data sources. Diagnoses and procedures were standardised to the European Paediatric Congenital Code - Short List. Methodological limitations were carefully documented. Results: From 8 participating institutions, an initial 359,084 patient records were assessed for eligibility and 68,234 unique individuals with structural CHD have been included in the current dataset. There were 20,395 (30 %) people with mild CHD, 25,157 (37 %) with moderate CHD, and 13,530 (20 %) with severe CHD (6 % unknown complexity). The most common diagnoses were Ventricular Septal Defect (16,781, 25 %), Atrial Septal Defect (6,607, 10 %), Aortic Valve Disorders (5516 8 %), Coarctation of the Aorta (5,321, 8 %), Tetralogy of Fallot (4,489, 7 %), Transposition of the Great Arteries (4,009, 6 %). Conclusion: The data presented here represents the most comprehensive cohort collected for the Australian CHD population thus far and is comparable with the largest contemporary CHD registries around the world. This Registry represents a key resource for improved understanding of the CHD population and will drive better care and outcomes for people living with CHD.