A Population-Based Approach to Congenital Heart Disease in Kerala, India.

Global, Regional and National Time Trends in Mortality for Congenital Heart Disease, 1990-2019: An Age-Period-Cohort Analysis for the GBD 2019

As a transcription factor mainly expressed in cardiovascular system, T-box 20 (TBX20) plays an important role in embryonic cardiovascular system development and adult heart function. Previous studies have identified associations of two SNPs in the T-box DNA-binding domain of TBX20 with congenital heart disease (CHD) in two Caucasian families, but the associations of TBX20 mutations underlying the more common populations with CHD remain to be uncovered. In this study, 25 unrelated Chinese Han neonates with CHD and 25 healthy children as controls were investigated for TBX20 mutations. SNP genotyping was performed by PCR-DNA sequencing. The selected SNPs were well genotyped and SNP rs3999941 was found to be strongly associated with CHD (p=0.007). The minor allele of rs3999941 showed a high-risk factor for CHD (OR 4.24; 95% CI 1.41-12.71). Besides, we found a new SNP site located at the 657th nucleotide of the exon 5 of TBX20 gene which may also be associated with CHD, c.657A>C. The frequency was significantly different between two groups (p=0.011), the minor allele of SNP c.657A>C also showed a risk factor for CHD (OR 2.56; 95% CI 1.02-6.46). These findings suggested that the TC genotype of SNP rs3999941 and AC genotype of the new SNP c.657A>C in the TBX20 gene may be risk factors for CHD and thus screening of these SNPs may have some implications in the prevention and treatment of CHD in Han Chinese children.

<i>Circulation</i> : Clinical Summaries

BACKGROUND There is a critical need to support patients with congenital heart disease (CHD), especially during their young adulthood, to help maintain lifelong care with adult CHD specialists. To achieve this, effective, scalable, accessible, and sustainable strategies are needed. Digital health offers potential solutions but require a rigorous scientific approach in its design to address the needs of the target population. OBJECTIVE To use a theory-based and person-centered approach to developing and adapting a digital intervention that improves lifelong CHD care. METHODS The intervention planning included the combination of theory-based behavioral framework, semi-structured qualitative interviews with patients and clinicians, and community-based participatory research (CBPR). The primary behavioral target was patients’ activation skills; skills that promote patient engagement with CHD care. We used the Capability, Opportunity, and Motivation (COM) and Theoretical Domains Framework (TDF) of the Behavior Change Wheel (BCW) theoretical model to identify determinants of the target behavior and design intervention components. To make the interventions equitable and relevant to diverse patients, we incorporated the principles of digital health equity, diffusion of innovation, and behavioral economics. RESULTS We interviewed 54 participants (37 diverse patients with CHD and 17 clinicians) and engaged 21 community partners representing 4 advocacy organizations. The COM- and TDF-guided CHD patient engagement framework identified the design objectives and key features of the digital intervention to address challenges uniquely faced by patients with CHD. Four emerging hopes for the digital tool included providing easy access to credible resources, uplifting patient voices, customizing to patient needs, and centering positivity and joy. The digital tool, named by community partners as Empower My Congenital Heart (EmpowerMyCH), was implemented within the web- and mobile-based, Apple- and Android-compatible, Eureka Digital Research platform (University of California, San Francisco). Key intervention components include a digital medical passport, expert and peer guidance, and peer connections and support. Six intervention functions from the BCW (education, training, modeling, enablement, persuasion, and environmental restructuring) were mapped to the intervention components. “Empowerment” and “Peer Empowerment” quotes are used as motivational, confidence-building messages from clinicians and patients, respectively, to reinforce the patient’s role as an active participant in their care. CONCLUSIONS The EmpowerMyCH digital tool, developed using behavior change theories and CBPR approaches, offers rapidly scalable intervention components (digital medical passport, education on managing CHD, and community support) that can be delivered outside the clinic visits. EmpowerMyCH redefines how we support adults with chronic conditions, such as CHD, to be actively involved in their care and could potentially improve outcomes. CLINICALTRIAL The National Clinical Trial number for this study is NCT06581484.

With the advent of improved medical and surgical care in congenital heart disease, there has been an increase in the number of patients who survive into adulthood, giving rise to a new patient population 'Adults with congenital heart disease'. In the past, morbidity and mortality were the primary concerns for this group. However, with improvements in outcome attention has shifted to other factors such as psychosocial and cognitive functioning. This paper reviews the literature on the cognitive functioning in adult congenital heart disease patients. A total of five relevant articles were retrieved via electronic searches of six databases, including MEDLINE, EMBASE, CINAHL, AMED, PsychINFO, and PubMed. The results displayed a consensus on the presence of some cognitive difficulties in adult congenital heart disease patients. The aetiology of cognitive dysfunctions appears to be multifactorial. The literature is limited by the very small number of studies looking at adults with congenital heart disease, with the majority focusing on cognitive functioning among children with congenital heart disease. However, the presence of cognitive dysfunctions and the resulting impact on the patient's day to day lives warrant for a more detailed and prospective research to enhance the understanding of its aetiology and impact.

BackgroundTransitioning from paediatric to adult congenital heart disease (CHD) care is a high-risk time for being lost to follow-up. Existing CHD transition programmes have not included patients, caregivers, and health care providers as partners in their development. This study aimed to develop recommendations for a CHD transition programme driven by lived and clinical experiences.MethodsWe used a multilevel participatory process that engaged adult and paediatric people living with CHD, their caregivers, and CHD health care providers as members of the research team. We also consulted members of these stakeholder groups through a series of 3 virtual workshops that culminated in the generation of recommendations for the essential components of a CHD transition programme.ResultsThe Transition Essentials recommendations inform what information, education, or support is required, who should provide it, and when and how it should be provided. Information, education, and support for self-management and knowledge are required for people living with CHD. Caregivers require information, education, and support to build capacity in people living with CHD and navigate their new role in their loved ones’ life. The health care team should provide this information, education, and support with peer support options when people living with CHD are 15-22 years of age. This information, education, and support should be individualized, navigate limitations, build over time, have multimodal options, and be available virtually or in person.ConclusionsEngaging those with lived and clinical expertise to develop recommendations for the essential components of a CHD transition programme provides important insights missing from previous studies.

Fetal heart defects: Potential and pitfalls of first-trimester detection

Background Decades of progress in care and treatment for congenital heart disease (CHD) have gradually shifted the research focus from initial survival to long-term prognosis and the ageing of adults with CHD. Knowledge about the aging adult with CHD will guide interventions to safeguard the quality of life across the life course in adults with CHD. The present study compares the prevalence of frailty and cognitive dysfunction between adults with CHD and a control group. Methods Using a multicenter design, we compared adults with moderate or complex CHD aged 40 or older, equally distributed 40-49, 50-59, and &amp;gt;60 years of age, with age and sex-matched controls. We assessed frailty phenotypes using the Fried method and cognitive dysfunction using the Montreal Cognitive Assessment (MoCA) tool. Results In total, 156 adults with CHD (56.0 ± 10.4 years, 54.4% male) and 86 controls (55.6 ± 11.2 years, 55.8% male) were included in the study. The overall proportions of cognitive dysfunction (MoCA score &amp;lt; 26) were similar between adults with CHD and controls (23.7% vs. 20.9%, p= 0.75). Similarly, there was no difference in the prevalence of pre-frailty/frailty between adults with CHD and controls (36.5% vs. 29.0%, p= 0.26). Conclusion Prevalence rates of cognitive dysfunction and frailty were somewhat unexpectedly similar between adults with CHD and age-matched controls. As more patients, particularly those with complex heart lesions, reach older ages, the prevalence of cognitive impairment and frailty may change.

Genetics and etiology of congenital heart disease.

Equal access to care for patients with congenital heart disease (CHD) remains unrealized globally. The ASSIST project (Academic Medical Hospitals-Local Institutions collaboration) is an ongoing national quality initiative implemented in low-resource settings in China attempting to reduce gaps in access to CHD care. This study sought to evaluate its feasibility and effectiveness. Shanghai Children's Medical Center, an academic medical center, has partnered with 4 local hospitals in low-resource regions to enhance local CHD programs since 2021. Comparison was made between patients receiving treatments in these 4 local hospitals before (2013-2020) versus after the ASSIST project (2021-2024). In addition, contemporaneous patients receiving treatments in Shanghai Children's Medical Center (2021-2024) were compared with the post-ASSIST cohort of patients. The primary outcome was a composite of postoperative mortality and multiorgan dysfunction. A key secondary outcome was delayed treatment, defined as an interval of more than 6 months between the time of surgery and the time when the clinicians recommended surgery at the initial presentation. The analysis cohort included 11 895 pediatric patients (median age, 2.0 years [25th-75th percentile 0.7-5.0]; 5933 female [49.9%]), with 3333 cases in the pre-ASSIST group, 1566 in the post-ASSIST group, and 6996 in the Shanghai Children's Medical Center group. Lower family educational attainment (odds ratio, 1.50 [95% CI 1.21-1.85]; P<0.001) and lower annual household income (odds ratio, 1.65 [95% CI, 1.14-2.38]; P=0.008) were associated with increased incidence of the primary outcome in the low-resource regions but could be mitigated by the ASSIST project in a multivariable model. There was a change in case mix of the CHDs after the ASSIST project, with a significant increase in more complex cases (35.5% versus 7.3%; P<0.001) and neonatal surgery (9.1% versus 1.5%; P<0.001). A higher portion of patients in the pre-ASSIST group had delayed treatment compared with those in the post-ASSIST group (43.2% versus 23.3%; P<0.001). Primary outcome analyses showed that patients in the post-ASSIST group and the Shanghai Children's Medical Center group had equivalent outcomes (4.4% versus 3.6%; P=0.13). Interhospital partnership appears to be a useful and feasible method to deliver regionalized quality care for pediatric patients with CHD in resource-limited regions.

The congenital heart disease (CHD) population has seen substantial growth due to advancements in paediatric cardiac care, cardiothoracic surgery, anaesthesia, and intensive care. Although improved surgical interventions have enhanced survival rates for even the most severe defects, such as hypoplastic left heart syndrome, most CHD patients remain palliated rather than cured, requiring lifelong expert care. With increasing survival, new challenges emerge in managing the ageing CHD population, particularly regarding changing medical, psychosocial needs, and the evolving epidemiology of CHD. Imaging plays a pivotal role in CHD care, offering precise anatomical and physiological insights necessary for effective management and risk stratification. The European Association of Cardiovascular Imaging (EACVI) established a shared interest group (SIG) to improve imaging standardization, promote education, and foster research for CHD patients. Multimodality imaging, including echocardiography, cardiovascular magnetic resonance (CMR), and computed tomography (CT), is critical in guiding interventions and improving outcomes. The SIG also addresses gaps in education, research, and global healthcare disparities, ensuring a collaborative and systematic approach to CHD care. Advances in imaging technology, genetic research, and tissue engineering hold promise for further improving the longevity and quality of life for CHD patients in the future.

Hybrid Interventions in Congenital Heart Disease

Worldwide, congenital heart disease is the principal heart disease in children and constitutes one of the major causes of infant mortality, particularly in developing countries. Infants and children with congenital heart disease exhibit a range of delays in weight gain and growth. In some instances, the delay can be relatively mild, whereas in other cases, cause the failure to thrive. To determine the nutritional status and associated factors of pediatric patients with congenital heart disease. A cross sectional analytical study conducted over a period of 6 months (Feb to Jul 2020). A total of 228 subjects with congenital heart disease who visited the cardiac center during the study period where included until the calculated sample size attained. Data is collected from patient's card and their care giver. Data was then analyzed using Statistical Package for Social Sciences (SPSS) for windows version 25.0. Odds Ratio with 95% Confidence Interval (CI) was used to determine the effect of the independent variables on the outcome variable and P-value less than 0.05 was considered statistically significant. A total of 228 children ranging from 3month to 17yrs of age with mean age of 4.7 years (SD = 3.8 years) were included in the study. Most of the subjects had acyanotic heart disease accounting for 87.7%. The overall prevalence of wasting, underweight and stunting were 41.3%, 49.1% and 43% respectively. Children with congenital heart disease and having pulmonary hypertension, were found more likely to develop wasting compared to those without pulmonary hypertension with an odds of 1.9 (95% CI: 1.0-3.4) and also have greater chance of stunting with an odds of 1.9 (95% CI: 1.0-3.4). Children 5 to 10 years of age were 2.3 times more likely to be underweight. Malnutrition is a major problem in pediatric patients with congenital heart disease. Pulmonary hypertension and older age are associated with increased risk of undernutrition.

Addressing Provider-Dependent Gaps in Sickle Cell Disease Care

Cancer is a leading cause of death in the United States. Although treatments have improved, patients and caregivers continue to report significant gaps in their care. The objective of this study was to examine the views of patients and caregivers on their experiences with current cancer care delivery and identify key strategies to improve the delivery of care. Semistructured interviews were conducted with 75 patients and 45 caregivers across the United States. The interviews were recorded, transcribed, and analyzed using constant comparative method of qualitative analysis. Participants reported multiple gaps in care delivery, including barriers in health communication with health care providers, lack of elucidation of care goals, lack of care coordination, and challenges in accessing care. Participants identified that greater use of nonphysician providers and alternative formats, such as telephone-based care and home and community-based care, would narrow these gaps. Understanding patients' and caregivers' experiences with gaps in cancer care delivery can inform cancer care delivery redesign efforts and lead to targeted interventions that result in patient-centered and family-oriented care.