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ObjectivesAdults with congenital heart disease (ACHD) are a growing group with end-stage heart failure. We aim to describe the outcomes of ACHD patients undergoing assessment for orthotopic heart transplant (OHT).MethodsCase notes of consecutive ACHD patients (>16 years) assessed for OHT between 2000 and 2016 at our centre were reviewed. Decision and outcome were reported as of 2017. Data were analysed in three groups: systemic left ventricle (LV), systemic right ventricle (RV) and single ventricle (SV).Results196 patients were assessed (31.8 years, 27% LV, 29% RV, 44% SV). 89 (45%) patients were listed for OHT and 67 (34%) were transplanted. 41 (21%) were unsuitable or too high risk and 36 (18%) were too well for listing. Conventional surgery was undertaken in 13 (7%) and ventricular assist device in 17 (9%) with 7 (4%) bridged to candidacy. Survival from assessment was 84.2% at 1 year and 69.7% at 5 years, with no difference between groups. Patients who were considered unsuitable for OHT (HR 11.199, p<0.001) and listed (HR 3.792, p=0.030) were more likely to die than those who were considered too well. Assessments increased over the study period.ConclusionsThe number of ACHD patients assessed for OHT is increasing. A third are transplanted with a small number receiving conventional surgery. Those who are unsuitable have a poor prognosis.

ObjectivePatients undergoing single-ventricle palliation have experienced significant improvement in survival in the recent era. However, a substantial proportion of these patients undergo reoperations. We performed a review of the Australia and New Zealand (ANZ) Fontan Registry to determine the overall reintervention and reoperative burden in these patients.MethodsA retrospective longitudinal cohort study was performed using data from patients who underwent a Fontan operation between 1975 and 2016 from the ANZ Fontan Registry. The data obtained included Fontan operation, reinterventions and most recent follow-up status. We examined the type and timing of reinterventions and survival.ResultsOf the 1428 patients identified, 435 (30%) underwent at least one reintervention after the Fontan operation: 110 patients underwent early reintervention and 413 underwent late reinterventions. Excluding Fontan conversion and transplantation, 220 patients underwent at least one interventional procedure and 209 patients underwent at least one reoperation. Fenestration closure and pacemaker-related procedures were the most common catheter and surgical interventions, respectively. The cumulative incidence of reintervention following Fontan was 23%, 37% and 55% at 10, 20 and 30 years, respectively. Survival and freedom from failure were worse in patients requiring later reintervention after Fontan surgery (51% vs 83% and 42% vs 69%, respectively at 30 years, p<0.001). This difference persisted after excluding pacemaker-related procedures (p<0.001). Operative mortality for non-pacemaker late reoperations after Fontan was 6%.ConclusionsA substantial proportion of Fontan patients require further intervention to maintain effective single-ventricle circulation. Patients undergoing reoperation after Fontan have higher rates of mortality and failure, despite intervention.

Purpose of Review Present an updated overview of the prevention, diagnosis, and management of infective endocarditis in adult patients with congenital heart disease. Recent Findings Care for patients with infective endocarditis is changing in the areas of specialized teams, diagnostics, and prevention. Endocarditis teams should be involved in the care of ACHD patients. The 2023 Duke Criteria for Infective Endocarditis and the 2023 European Society of Cardiology Guidelines have updated the criteria for diagnosis including new major criteria such as CT and positron emission computed tomography with 18F-fluorodeoxyglucose (FDG) scans. Immunological, PCR, and nucleic acid-based tests are now acceptable means to isolate infective organisms. Clindamycin is no longer recommended for antibiotic prophylaxis due to resistance and side effect profile. Special considerations for antibiotic prophylaxis and management must be made for specific congenital heart diseases in adulthood and pregnant ACHD patients. Summary Infective endocarditis (IE), a potentially devastating clinical entity, is a feared threat to the health of adults with congenital heart disease (ACHD). IE needs a systematic approach for its prevention, early diagnosis and management with a multidisciplinary IE team’s involvement. There have been changes in the diagnostics and management of IE, which is reflected in updated diagnostic criteria. Timely blood cultures and imaging continue to be the mainstay of diagnosis, however the timing of blood cultures, microbiological testing, and types of diagnostic imaging such as the positron emission computed tomography with 18F-fluorodeoxyglucose (FDG) scan are new. Bicuspid aortic valves, ventricular septal defects, transcatheter pulmonary valve replacements, and tetralogy of Fallot are diagnoses at higher risk for IE in the ACHD population. The following article will focus on the preventive strategies, in addition to novel diagnostic and therapeutic approaches of IE in ACHD patients.

Pediatric patients with moderate and great complexity congenital heart disease (CHD) may benefit from coordinated transfer to adult congenital heart disease (ACHD) centers to reduce the risk of complications; however, there are a variety of transfer practices. We examined the impact of referral order placement at the last pediatric cardiology visit on time to transfer to an ACHD center. We analyzed data collected from pediatric patients with moderate and great complexity CHD who were eligible to transfer to our tertiary center’s accredited ACHD center. We examined transfer outcomes and time-to-transfer between those with a referral order placed at the last pediatric cardiology visit and those without using Cox proportional hazards modeling. The sample (n = 65) was 44.6% female and mean age at study start was 19.5 years (± 2.2). Referral orders were placed for 32.3% of patients at the last pediatric cardiology visit. Those who had a referral order placed at the last visit had significantly higher number of successful transfers to the ACHD center compared to those who did not (95% vs 25%, p  < 0.001). In a Cox regression model, placement of a referral order at the last pediatric cardiology visit was associated significantly with a sooner time to transfer (HR 6.0; 95% CI 2.2–16.2, p  > 0.001), adjusting for age, sex, complexity, living location, and pediatric cardiology visit location. Placement of a referral order at the last pediatric cardiology visit may improve transfer occurrence and time to transfer to accredited ACHD centers.

Purpose of Review Patient engagement is defined as the meaningful involvement and active partnership of patients and key partners throughout the entire research project. This article reviews the importance of developing a patient engagement plan to promote better alignment of research with patients’ and clinicians’ real-world needs and concerns. Recent Findings The Congenital Heart Initiative (CHI) launched in 2020 is an entirely web-based longitudinal registry designed in close coordination with the adult congenital heart disease (ACHD) community it is intended to serve. Successful community engagement has resulted in real-world data being collected in large scale in a rare disease population. Summary Establishing patient engagement plans is critical to conducting patient-centered outcomes research. Continued improvement of community engagement strategies is needed to ensure the entire ACHD population is represented to facilitate future research and improved clinical care.

Progress towards the development and adoption of minimally invasive techniques in cardiac surgery has been slower than that seen in other surgical specialties. Congenital heart disease (CHD) patients represent an important population within cardiac disease, of which atrial septal defect (ASD) is one of the most common diagnoses. Management of ASD encompasses a range of minimal-access and minimally invasive approaches, including transcatheter device closure, mini-sternotomy, thoracotomy, video-assisted, endoscopic, and robotic approaches. In this article, we will discuss the pathophysiology of ASD, along with diagnosis, management, and indications for intervention. We will review the current evidence supporting minimally invasive and minimal-access surgical ASD closure in the adult and paediatric patient, highlighting peri-operative considerations and areas for further research.

Purpose of Review Understanding exercise physiology as it relates to adult congenital heart disease (ACHD) can be complex. Here we review fundamental physiologic principles and provide a framework for application to the unique ACHD patient population. Recent Findings ACHD exercise participation has changed dramatically in the last 50 years. A modern approach focuses on exercise principles and individual anatomic and physiologic considerations. With an evolving better understanding of ACHD exercise physiology, we can strategize plans for patients to participate in dynamic and static exercises. Newly developed technologies including wearable devices provide additive information for ACHD providers for further assessment and monitoring. Summary Preparation and assessment for ACHD patients prior to exercise require a thoughtful, personalized approach. Exercise prescriptions can be formulated to adequately meet the needs of our patients.

Purpose of Review Approximately 30% of syndromic cases diagnosed with CHD, which lure us to further investigate the molecular and clinical challenges behind syndromic CHD (sCHD). The aetiology of sCHD in a majority of cases remains enigmatic due to involvement of multiple factors, namely genetic, epigenetic and environmental modifiable risk factors for the development of the disease. Here, we aim to update the role of genetic contributors including chromosomal abnormalities, copy number variations (CNVs) and single gene mutations in cardiac specific genes, maternal lifestyle conditions, environmental exposures and epigenetic modifiers in causing CHD in different genetic syndromes. Recent Findings The exact aetiology of sCHD is still unknown. With the advancement of next-generation technologies including WGS, WES, transcriptome, proteome and methylome study, numerous novel genes and pathways have been identified. Moreover, our recent knowledge regarding epigenetic and environmental regulation during cardiogenesis is still evolving and may solve some of the mystery behind complex sCHD. Summary Here, we focus to understand how the complex combination of genetic, environmental and epigenetic factors interact to interfere with developmental pathways, culminating into cardiac and extracardiac defects in sCHD.

Purpose of Review Congenital heart disease (CHD) is the most frequently occurring birth defect. Majority of the earlier reviews focussed on the association of genetic factors with CHD. A few epidemiological studies provide convincing evidence for environmental factors in the causation of CHD. Although the multifactorial theory of gene-environment interaction is the prevailing explanation, explicit understanding of the biological mechanism(s) involved, remains obscure. Nonetheless, integration of all the information into one platform would enable us to better understand the collective risk implicated in CHD development. Recent Findings Great strides in novel genomic technologies namely, massive parallel sequencing, whole exome sequencing, multiomics studies supported by system-biology have greatly improved our understanding of the aetiology of CHD. Molecular genetic studies reveal that cardiac specific gene variants in transcription factors or signalling molecules, or structural proteins could cause CHD. Additionally, non-hereditary contributors such as exposure to teratogens, maternal nutrition, parental age and lifestyle factors also contribute to induce CHD. Moreover, DNA methylation and non-coding RNA are also correlated with CHD. Summary Here, we inform that a complex combination of genetic, environmental and epigenetic factors interact to interfere with morphogenetic processes of cardiac development leading to CHD. It is important, not only to identify individual genetic and non-inherited risk factors but also to recognize which factors interact mutually, causing cardiac defects.

Purpose of Review Heart failure is the leading cause of morbidity and mortality in adults with congenital heart disease and is characterized by a variety of underlying mechanisms. Here, we aim to elaborate on the medical and technological advancements in the management of heart failure in adult patients with congenital heart disease and highlight the use of imaging modalities to guide therapy. Recent Findings There have been several advances over the past decade with angiotensin receptor neprilysin and sodium-glucose cotransporter-2 inhibitors, atrioventricular valve clips, transcatheter pulmonary valves, catheter ablation, and cardiac resynchronization therapy, as well as the introduction of lymphatic interventions. Expanded use of echocardiography, cardiac magnetic resonance imaging, and cardiac computed tomography has guided many of these therapies. Summary Significant innovations in the management of heart failure in adults with congenital heart disease have evolved with advancements in imaging modalities playing a critical role in guiding treatment therapies.