Hemodynamics and Wall Mechanics of Vascular Graft Failure.

Blood vessels are subjected to complex biomechanical loads, primarily from pressure-driven blood flow. Abnormal loading associated with vascular grafts, arising from altered hemodynamics or wall mechanics, can cause acute and progressive vascular failure and end-organ dysfunction. Perturbations to mechanobiological stimuli experienced by vascular cells contribute to remodeling of the vascular wall via activation of mechanosensitive signaling pathways and subsequent changes in gene expression and associated turnover of cells and extracellular matrix. In this review, we outline experimental and computational tools used to quantify metrics of biomechanical loading in vascular grafts and highlight those that show potential in predicting graft failure for diverse disease contexts. We include metrics derived from both fluid and solid mechanics that drive feedback loops between mechanobiological processes and changes in the biomechanical state that govern the natural history of vascular grafts. As illustrative examples, we consider application-specific coronary artery bypass grafts, peripheral vascular grafts, and tissue-engineered vascular grafts for congenital heart surgery as each of these involves unique circulatory environments, loading magnitudes, and graft materials.

Environmental Exposures and Pediatric Cardiology: A Scientific Statement From the American Heart Association.

Environmental toxicants and pollutants are causes of adverse health consequences, including well-established associations between environmental exposures and cardiovascular diseases. Environmental degradation is widely prevalent and has a long latency period between exposure and health outcome, potentially placing a large number of individuals at risk of these health consequences. Emerging evidence suggests that environmental exposures in early life may be key risk factors for cardiovascular conditions across the life span. Children are a particularly sensitive population for the detrimental effects of environmental toxicants and pollutants given the long-term cumulative effects of early-life exposures on health outcomes, including congenital heart disease, acquired cardiac diseases, and accumulation of cardiovascular disease risk factors. This scientific statement highlights representative examples for each of these cardiovascular disease subtypes and their determinants, focusing specifically on the associations between climate change and congenital heart disease, airborne particulate matter and Kawasaki disease, blood lead levels and blood pressure, and endocrine-disrupting chemicals with cardiometabolic risk factors. Because children are particularly dependent on their caregivers to address their health concerns, this scientific statement highlights the need for clinicians, research scientists, and policymakers to focus more on the linkages of environmental exposures with cardiovascular conditions in children and adolescents.

Preconception counselling in women of reproductive age attending cardiology clinics in Scotland.

BACKGROUND: Guidelines for the management of cardiovascular disease (CVD) recommend preconception risk stratification and counselling in all women of childbearing age. We assessed the provision of preconception counselling (PCC) among women of reproductive age attending general cardiology outpatient clinics over a 12-month period in two large health boards in Scotland. METHODS AND RESULTS: Electronic health records were reviewed and data on patient demographics, cardiac diagnoses, medication use and the content of documented discussions regarding PCC were recorded. Women were classified according to the modified WHO (mWHO) risk stratification system. Among 1650 women with a cardiac diagnosis included (1 January 2016-31 December 2016), the mean age was 32.7±8.6 years, and 1574 (95.4%) attended a consultant-led clinic. A quarter (402, 24.4%) were prescribed at least one potentially fetotoxic cardiovascular medication. PCC was documented in 10.3% of women who were not pregnant or were unable to conceive at the time of review (159/1548). The distribution of mWHO classification, and proportion of patients within each mWHO category who received any form of PCC, was 15.0% and 6.0% in mWHO class I, 20.2% and 8.7% in mWHO class II, 22.6% and 10.6% in mWHO class II-III, 9.5% and 15.7% in mWHO class III and 3.9% and 19.7% in mWHO class IV. CONCLUSION: PCC is documented infrequently in women of reproductive age with CVD in the general outpatient setting. Education relating to the risks of cardiac disease in pregnancy for clinicians and patients, and tools to support healthcare providers in delivering PCC, is important.

Breastfeeding in primiparous women with congenital heart disease - a register study.

BACKGROUND: The number of pregnant women with congenital heart disease (CHD) is rising, and the disease poses increased risks of cardiovascular and obstetric complications during pregnancy, potentially impacting breastfeeding success. This study aimed to investigate breastfeeding in primiparous women with CHD compared to primiparous women without CHD, and to examine potential hindering factors for breastfeeding in women with CHD. METHODS: The data were gathered between 2014 and 2019 and obtained by merging the Swedish Congenital Heart Disease Register (SWEDCON) with the Swedish Pregnancy Register. Primiparous women ≥ 18 years of age with CHD (n = 578) were matched by age and municipality to 3049 women without CHD, giving birth after 22 gestational weeks. Multivariable logistic regression analysis was used to identify factors associated with non-breastfeeding in women with CHD. RESULTS: Fewer women with CHD breastfed than women without CHD two days (94% vs. 97%, p = 0.001) and four weeks after birth (84% vs. 89%, p = 0.006). When all women were analysed, having CHD was associated with non-breastfeeding at both two days and four weeks after birth. For women with CHD, body mass index (BMI) ≥ 30 (OR 3.1; 95% CI 1.4, 7.3), preterm birth (OR 6.4; 95% CI 2.1, 19.0), self-reported history of psychiatric illness (OR 2.4; 95% CI 1.2, 5.1), small for gestational age (OR 4.2; 95% CI 1.4, 12.2), and New York Heart Association Stages of Heart Failure class II - III (OR 6.0; 95% CI 1.4, 26.7) were associated with non-breastfeeding two days after birth. Four weeks after birth, factors associated with non-breastfeeding were BMI ≥ 30 (OR 4.3; 95% CI 2.1, 9.0), self-reported history of psychiatric illness (OR 2.2; 95% CI 1.2, 4.2), and preterm birth (OR 8.9; 95% CI 2.8, 27.9). CONCLUSIONS: The study shows that most women with CHD breastfeed, however, at a slightly lower proportion compared to women without CHD. In addition, factors related to the heart disease were not associated with non-breastfeeding four weeks after birth. Since preterm birth, BMI ≥ 30, and psychiatric illness are associated with non-breastfeeding, healthcare professionals should provide greater support to women with CHD having these conditions.

Advancing Wearable Biosensors for Congenital Heart Disease: Patient and Clinician Perspectives: A Science Advisory From the American Heart Association.

Wearable biosensors (wearables) enable continual, noninvasive physiologic and behavioral monitoring at home for those with pediatric or congenital heart disease. Wearables allow patients to access their personal data and monitor their health. Despite substantial technologic advances in recent years, issues with hardware design, data analysis, and integration into the clinical workflow prevent wearables from reaching their potential in high-risk congenital heart disease populations. This science advisory reviews the use of wearables in patients with congenital heart disease, how to improve these technologies for clinicians and patients, and ethical and regulatory considerations. Challenges related to the use of wearables are common to every clinical setting, but specific topics for consideration in congenital heart disease are highlighted.

Time to childbirth and assisted reproductive treatment in women with congenital heart disease.

OBJECTIVE: To investigate the time to first childbirth and to compare the prevalence of assisted reproductive treatment (ART) in women with congenital heart disease (CHD) compared with women without CHD. METHODS: All women in the national register for CHD who had a registered first childbirth in the Swedish Pregnancy Register between 2014 and 2019 were identified. These individuals (cases) were matched by birth year and municipality to women without CHD (controls) in a 1:5 ratio. The time from the 18th birthday to the first childbirth and the prevalence of ART was compared between cases and controls. RESULTS: 830 first childbirths in cases were identified and compared with 4137 controls. Cases were slightly older at the time for first childbirth (28.9 vs 28.5 years, p=0.04) and ART was more common (6.1% vs 4.0%, p<0.01) compared with controls. There were no differences in ART when stratifying for the complexity of CHD. For all women, higher age was associated with ART treatment (OR 1.24, 95% CI 1.20 to 1.28). CONCLUSIONS: Women with and without CHD who gave birth to a first child did so at similar ages. ART was more common in women with CHD, but disease severity did not influence the need for ART. Age was an important risk factor for ART also in women with CHD and should be considered in consultations with these patients.

ESR Essentials: ten steps to cardiac MR-practice recommendations by ESCR.

Cardiovascular MR imaging has become an indispensable noninvasive tool in diagnosing and monitoring a broad range of cardiovascular diseases. Key to its clinical success and efficiency are appropriate clinical indication triage, technical expertise, patient safety, standardized preparation and execution, quality assurance, efficient post-processing, structured reporting, and communication and clinical integration of findings. Technological advancements are driving faster, more accessible, and cost-effective approaches. This ESR Essentials article presents a ten-step guide for implementing a cardiovascular MR program, covering indication assessments, optimized imaging, post-processing, and detailed reporting. Future goals include streamlined protocols, improved tissue characterization, and automation for greater standardization and efficiency. CLINICAL RELEVANCE STATEMENT: The growing clinical role of cardiovascular MR in risk assessment, diagnosis, and treatment planning highlights the necessity for radiologists to achieve expertise in this modality, advancing precision medicine and healthcare efficiency. KEY POINTS: • Cardiovascular MR is essential in diagnosing and monitoring many acute and chronic cardiovascular pathologies. • Features such as technical expertise, quality assurance, patient safety, and optimized tailored imaging protocols, among others, are essential for a successful cardiovascular MR program. • Ongoing technological advances will push rapid multi-parametric cardiovascular MR, thus improving accessibility, patient comfort, and cost-effectiveness. KEY POINTS: • Cardiovascular MR is essential in diagnosing and monitoring a wide array of cardiovascular pathologies (Level of Evidence: High). • A successful cardiovascular MR program depends on standardization (Level of Evidence: Low). • Future developments will increase the efficiency and accessibility of cardiovascular MR (Level of Evidence: Low).

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.

BACKGROUND: Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. This study sought to investigate the association between the TBX20 truncating variant (TBX20tv) and DCM/LVNC. METHODS: TBX20 was sequenced by next-generation sequencing in 7463 unrelated probands with a diagnosis of DCM or LVNC, 22 773 probands of an internal comparison group (hypertrophic cardiomyopathy, channelopathies, or aortic diseases), and 124 098 external controls (individuals from the gnomAD database). Enrichment of TBX20tv in DCM/LVNC was calculated, cosegregation was determined in selected families, and clinical characteristics and outcomes were analyzed in carriers. RESULTS: TBX20tv was enriched in DCM/LVNC (24/7463; 0.32%) compared with internal (1/22 773; 0.004%) and external comparison groups (4/124 098; 0.003%), with odds ratios of 73.23 (95% CI, 9.90-541.45; P<0.0001) and 99.76 (95% CI, 34.60-287.62; P<0.0001), respectively. TBX20tv was cosegregated with DCM/LVNC phenotype in 21 families for a combined logarythm of the odds score of 4.53 (strong linkage). Among 57 individuals with TBX20tv (49.1% men; mean age, 35.9±20.8 years), 41 (71.9%) exhibited DCM/LVNC, of whom 14 (34.1%) had also congenital heart defects. After a median follow-up of 6.9 (95% CI, 25-75:3.6-14.5) years, 9.7% of patients with DCM/LVNC had end-stage heart failure events and 4.8% experienced malignant ventricular arrhythmias. CONCLUSIONS: TBX20tv is associated with DCM/LVNC; congenital heart defect is also present in around one-third of cases. TBX20tv-associated DCM/LVNC is characterized by a nonaggressive phenotype, with a low incidence of major cardiovascular events. TBX20 should be considered a definitive gene for DCM and LVNC and routinely included in genetic testing panels for these phenotypes.

Neurodevelopmental Outcomes for Individuals With Congenital Heart Disease: Updates in Neuroprotection, Risk-Stratification, Evaluation, and Management: A Scientific Statement From the American Heart Association.

Over the past decade, new research has advanced scientific knowledge of neurodevelopmental trajectories, factors that increase neurodevelopmental risk, and neuroprotective strategies for individuals with congenital heart disease. In addition, best practices for evaluation and management of developmental delays and disorders in this high-risk patient population have been formulated based on literature review and expert consensus. This American Heart Association scientific statement serves as an update to the 2012 statement on the evaluation and management of neurodevelopmental outcomes in children with congenital heart disease. It includes revised risk categories for developmental delay or disorder and an updated list of factors that increase neurodevelopmental risk in individuals with congenital heart disease according to current evidence, including genetic predisposition, fetal and perinatal factors, surgical and perioperative factors, socioeconomic disadvantage, and parental psychological distress. It also includes an updated algorithm for referral, evaluation, and management of individuals at high risk. Risk stratification of individuals with congenital heart disease with the updated categories and risk factors will identify a large and growing population of survivors at high risk for developmental delay or disorder and associated impacts across the life span. Critical next steps must include efforts to prevent and mitigate developmental delays and disorders. The goal of this scientific statement is to inform health care professionals caring for patients with congenital heart disease and other key stakeholders about the current state of knowledge of neurodevelopmental outcomes for individuals with congenital heart disease and best practices for neuroprotection, risk stratification, evaluation, and management.

Comparison of definitive approaches for conotruncal defects following bidirectional Glenn procedure.

BACKGROUND: Staged repair is common for complex conotruncal defects, often involving bidirectional Glenn (BDG) procedure. Following the cavopulmonary shunt, both Fontan completion and biventricular conversion (BiVC) serve as definitive approaches. The optimal strategy remains controversial. METHODS: The baseline, perioperative and follow-up data were obtained for all paediatric patients with conotruncal defects who underwent BDG procedure as palliation in Fuwai Hospital from 2013 to 2022. Patients with single ventricle were excluded. The primary outcome was mortality. The secondary outcome was reintervention, including any cardiovascular surgeries and non-diagnostic catheterisations. RESULTS: A total of 232 patients were included in the cohort, with 142 underwent Fontan (61.2%) and 90 underwent BiVC (38.8%). The median interstage period from BDG to the definitive procedure was 3.83 years (IQR: 2.72-5.42) in the overall cohort, 3.62 years (IQR: 2.57-5.15) in the Fontan group and 4.15 years (IQR: 3.05-6.13) in the BiVC group (p=0.03). The in-hospital outcomes favoured the Fontan group, including duration of cardiopulmonary bypass, aortic cross-clamp, mechanical ventilation and intensive care unit stay. Postoperative mortality was generally low and comparable, as was the reintervention rate (HR=1.42, 95% CI: 0.708 to 2.85, p=0.32). The left ventricular size was smaller at baseline and within the normal range at follow-up for both Fontan and BiVC groups; however, it was significantly larger with BiVC at follow-up. CONCLUSION: In paediatric patients with conotruncal heart defects who underwent BDG procedure, BiVC is a feasible option, especially for patients with certain Fontan risk factors, and are not ideal candidates for successful Fontan completion.

Catheterization for Congenital Heart Disease Adjustment for Risk Method II.

BACKGROUND: Current metrics used to adjust for case mix complexity in congenital cardiac catheterization are becoming outdated due to the introduction of novel procedures, innovative technologies, and expanding patient subgroups. This study aims to develop a risk adjustment methodology introducing a novel, clinically meaningful adverse event outcome and incorporating a modern understanding of risk. METHODS: Data from diagnostic only and interventional cases with defined case types were collected for patients ≤18 years of age and ≥2.5 kg at all Congenital Cardiac Catheterization Project on Outcomes participating centers. The derivation data set consisted of cases performed from 2014 to 2017, and the validation data set consisted of cases performed from 2019 to 2020. Severity level 3 adverse events were stratified into 3 tiers by clinical impact (3a/b/c); the study outcome was clinically meaningful adverse events, severity level ≥3b (3bc/4/5). RESULTS: The derivation data set contained 15 224 cases, and the validation data set included 9462 cases. Clinically meaningful adverse event rates were 4.5% and 4.2% in the derivation and validation cohorts, respectively. The final risk adjustment model included age <30 days, Procedural Risk in Congenital Cardiac Catheterization risk category, and hemodynamic vulnerability score (C statistic, 0.70; Hosmer-Lemeshow P value, 0.83; Brier score, 0.042). CONCLUSIONS: CHARM II (Congenital Heart Disease Adjustment for Risk Method II) risk adjustment methodology allows for equitable comparison of clinically meaningful adverse events among institutions and operators with varying patient populations and case mix complexity performing pediatric cardiac catheterization.

Evaluation of healthcare professionals' experiences of taking telephone calls from parents of children with congenital heart disease. A risky business.

The Congenital Heart Disease Standards for England indicate that parents and children should have access to a 24-h telephone advice service, however, little is known about existing services. This paper presents phase two of a mixed-methods service evaluation, which aimed to evaluate staff experiences of telephone communication with these parents. All nursing and support staff in a single specialist children's cardiac surgical centre were invited to participate in an online survey during July-November 2019. Data were descriptively and thematically analysed. Participants (N = 39) were predominantly nurses (n = 32, 82%) with 64.1% (n = 25) working in the speciality >10 years. Positive experiences included: signposting and preventing further deterioration; supporting families to get expert advice quickly; providing reassurance. Challenging experiences included: offering advice without being able to see the child, dealing with telephone calls alongside busy workload; and parents running out of medications and telephoning out of hours. In conclusion, taking telephone calls were perceived to be time consuming and are potentially high risk. A standardised approach to assessment, intervention and documentation was deemed necessary. Implementation of an updated parental early warning tool was recommended, along with staff and parental education.

Síndrome de Eisenmenger secundario a comunicación interatrial tipo ostium secundum en mujer adulta / Eisenmenger Syndrome Associated with an ostium secundum Atrial Septal Defect in an Adult Woman

El síndrome de Eisenmenger es la forma más severa de presentación de hipertensión arterial pulmonar secundaria a defectos cardíacos congénitos no reparados, aunque su prevalencia es baja, continúa siendo un reto para los sistemas de salud de los países en vías de desarrollo por su complejidad en el manejo. Presentación del caso. Paciente femenina sin antecedentes médicos conocidos quien consulta por disnea relacionada a los esfuerzos y policitemia. Intervención terapéutica. Se realiza ecocardiograma transesofágico que arroja la presencia de defecto interatrial tipo ostium secundum e hipertensión arterial pulmonar severa, con cortocircuito de derecha a izquierda, se inicia oxigenoterapia y terapia farmacológica. Evolución clínica. Paciente permaneció ingresada presentando notable mejora a la disnea, se le dio de alta con referencia a la clínica de cardiopatías congénitas del adulto en Hospital Nacional Rosales.

Eisenmenger syndrome is the most severe form of pulmonary arterial hypertension secondary to an unrepaired congenital heart disease. Despite the low prevalence, it remains a challenge for the public health service of developing countries due to the complexity of the treatment. Case presentation. A female patient without known medical history, who consults with dyspnea on exertion and polycythemia. Treatment. A transesophageal echocardiogram was performed, showing an ostium secundum atrial septal defect and severe pulmonary arterial hypertension with a right-left shunt. Supplemental oxygen was administrated and pharmacological treatment was started. Outcome. The patient presented remarkable clinical improvement to dyspnea, she was discharged with medical reference to the Adult Congenital Heart Disease clinic at Rosales National Hospital.

Outpatient care of adults with congenital heart disease in the UK: a qualitative appraisal of the clinician perspective.

OBJECTIVE: This study aimed to explore clinicians' perspectives of ambulatory care in adult congenital heart disease (ACHD). METHODS: Semistructured interviews were carried out remotely (Zoom) with a range of physicians providing ambulatory care to patients with ACHD across the UK. The chronic care model, thrive and candidacy frameworks were used to design prompt guides and subsequently develop themes. A framework approach was used to code and analyse transcripts, which were managed in NVivo. RESULTS: 21 clinicians (43% females, 38% specialists) from 10/12 ACHD networks in the UK participated. Shared themes included the purpose of the clinic appointment, problems in the 'hub-and-spoke' care system, role of the general practitioner and ACHD specialist nurse, communication with patients, burden of ambulatory care and patient self-management. Reflecting on these themes, participants identified resources, what care and how and by it is delivered alongside the role of the patient as key areas for future research. CONCLUSIONS: The present structure of ACHD ambulatory care is neither patient-centred nor equitable. The concerned clinicians raise the question whether increasing resource alone without changing structure will lead to better outcomes for patients.

Triple vasodilator therapy in pulmonary arterial hypertension associated with congenital heart disease.

OBJECTIVE: This study assessed the long-term effects of triple therapy with prostanoids on patients with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD), as there is limited information on the safety and efficacy of this treatment approach. METHODS: A retrospective cohort study was conducted on patients with PAH-CHD who were actively followed up at our centre. All patients were already receiving dual combination therapy at maximum doses. Clinical characteristics, including functional class (FC), 6-minute walking test distance (6MWTD) and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels, were documented before initiating triple therapy and annually for a 2-year follow-up period. RESULTS: A total of 60 patients were included in the study, with a median age of 41 years and 68% being women. Of these, 32 had Eisenmenger syndrome, 9 had coincidental shunts, 18 had postoperative PAH and 1 had a significant left-to-right shunt. After 1 year of triple combination initiation, a significant improvement in 6MWTD was observed (406 vs 450; p=0.0027), which was maintained at the 2-year follow-up. FC improved in 79% of patients at 1 year and remained stable in 76% at 2 years. NT-proBNP levels decreased significantly by 2 years, with an average reduction of 199 ng/L. Side effects were experienced by 33.3% of patients but were mostly mild and manageable. Subgroup analysis showed greater benefits in patients without Eisenmenger syndrome and those with pre-tricuspid defects. CONCLUSIONS: Triple therapy with prostanoids is safe and effective for patients with PAH-CHD, improving FC, 6MWTD and NT-proBNP levels over 2 years. The treatment is particularly beneficial for patients with pre-tricuspid defects and non-Eisenmenger PAH-CHD.

A randomized controlled trial to assess the impact of psychoeducation on the quality of life of parents with children with congenital heart defects-Quantitative component.

PURPOSE: To develop, implement and assess the results of psychoeducation to improve the QoL of parents with CHD newborns. METHODS: Participants were parents of inpatient newborns with the diagnosis of non-syndromic CHD. We conducted a parallel RCT with an allocation ratio of 1:1 (intervention vs. control), considering the newborns, using mixed methods research. The intervention group received psychoeducation (Parental Psychoeducation in CHD [PPeCHD]) and the usual routines, and the control group received just the regular practices. The allocation concealment was assured. PI was involved in enrolling participants, developing and implementing the intervention, data collection and data analysis. We followed the Consolidated Standards of Reporting Trials (CONSORT) guidelines. RESULTS: Parents of eight newborns were allocated to the intervention group (n = 15 parents) and eight to the control group (n = 13 parents). It was performed as an intention-to-treat (ITT) analysis. In M2 (4 weeks), the intervention group presented better QoL levels in the physical, psychological, and environmental domains of World Health Organization Quality of Life instrument (WHOQOL-Bref). In M3 (16 weeks), scores in physical and psychological domains maintained a statistically significant difference between the groups. CONCLUSIONS: The PPeCHD, the psychoeducational intervention we developed, positively impacted parental QoL. These results support the initial hypothesis. This study is a fundamental milestone in this research field, adding new essential information to the literature.

TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.

TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with TBX20 loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was performed in index cases, variants were validated with Sanger sequencing, and cascade genetic testing was performed in family members. A multi-exon deletion, small deletion, essential splice site variant and nonsense variant in TBX20 were found in four families. The index cases in two families were symptomatic children with identical congenital heart diseases and LVNC who developed different cardiomyopathy phenotypes with one developing heart failure requiring transplantation. In another family, the child index case had LVNC and congestive heart failure requiring heart transplantation. In the fourth family, the index case was a symptomatic adult with LVNC. In all families, the variants segregated in relatives with isolated LVNC, or with congenital heart disease or cardiomyopathy. Family members displayed a clinical spectrum from asymptomatic to severe presentations including heart failure. Our data strengthen TBX20 loss-of-function variants as a rare cause of LVNC and support TBX20 inclusion in genetic testing of LVNC.