Transition of care in CHD: a single-centre experience: an enigma remains.

Transition of care refers to the continuity of health care during the movement from one healthcare setting to another as care needs change during a chronic illness. We sought to describe social, demographic, and clinical factors related to successful transition in a tertiary urban care facility in patients with CHD. Patients were identified utilising the electronic medical record. Inclusion criteria were patients with CHDs aged ≥15 years seen in the paediatric cardiology clinic between 2013 and 2014. Deceased patients were excluded. Clinical and demographic variables were collected. Patient charts were reviewed in 2015-2021 to determine if included patients were a) still in paediatric cardiology care, b) transitioned to adult cardiology/adult CHD, or were c) lost to follow-up. A total of 322 patients, 53% male (N:172), 46% female (N:149) were included. Majority had moderately complex lesions (N:132, 41%). Most patients had public insurance (N:172, 53%), followed by private insurance (N:67, 21%), while 15% of patients (N:47) were uninsured. Only 49% (N = 159) had successful transition, while 22% (N = 70) continued in care with paediatric cardiology, and 29% (N = 93) were lost to follow-up. Severity of CHD (p = 0.0002), having healthcare insurance (p < .0001), presence of a defibrillator (p = 0.0028), and frequency of paediatric cardiology visits (p = 0.0005) were significantly associated with successful transition. Most patients lost to follow-up (N:42,62%) were either uninsured or had public insurance. Lack of successful transition is multifactorial, and further efforts are needed to improve the process in patients with CHD.

Design of a multi-institutional neurocognitive discovery study in adult congenital heart disease (MINDS-ACHD).

BACKGROUND: Neurocognitive dysfunction (NCD) is a common comorbidity among children with congenital heart disease (CHD). However, it is unclear how underlying CHD and its sequelae combine with genetics and acquired cardiovascular and neurological disease to impact NCD and outcomes across the lifespan in adults with CHD. METHODS: The Multi-Institutional Neurocognitive Discovery Study in Adults with Congenital Heart Disease (MINDS-ACHD) is a partnership between the Pediatric Heart Network (PHN) and the Adult Alliance for Research in Congenital Cardiology (AARCC) that examines objective and subjective neurocognitive function and genetics in young ACHD. This multicenter cross-sectional pilot study is enrolling 500 young adults between 18 and 30 years with moderate or severe complexity CHD at 14 centers in North America. Enrollment includes 4 groups (125 participants each): (1) d-looped Transposition of the Great Arteries (d-TGA); (2) Tetralogy of Fallot (TOF); (3) single ventricle (SV) physiology; and (4) "other moderately or severely complex CHD." Participants complete the standardized tests from the NIH Toolbox Cognitive Battery, the NeuroQoL, the Hospital Anxiety and Depression Scale, and the PROMIS Global QoL measure. Clinical and demographic variables are collected by interview and medical record review, and an optional biospecimen is collected for genetic analysis. Due to the COVID-19 pandemic, participation may be done remotely. Tests are reviewed by a Neurocognitive Core Laboratory. CONCLUSIONS: MINDS-ACHD is the largest study to date characterizing NCD in young adults with moderate or severely complex CHD in North America. Its results will provide valuable data to inform screening and management strategies for NCD in ACHD and improve lifelong care.

Impact of Obesity on Ventriculo-Arterial Interaction in Patients After Coarctation of Aorta repair.

Survival of patients after repair of coarctation of Aorta (CoA) has improved significantly over the decades, but patients have decreased life expectancy as compared to the general population. This has been attributed to increased hypertension, cerebrovascular disease, and coronary artery disease. There has also been an increasing concern of overweight and obesity in patients with adult congenital heart disease. While there have been studies looking at the impact of long-term hypertension on myocardial performance and outcomes in this population, this study aims to assess the impact of obesity in these patients on their myocardial performance. Ventriculo-arterial coupling is used as a measure of myocardial performance which reflects the interaction between cardiac contractility and arterial elastance. Patients after CoA repair are known to have hypertension affecting the arterial elastance. Obesity affects cardiac contractility as well. This study demonstrated that in a group of young patients after CoA repair, body mass index (BMI) has a relationship with left ventricular (LV) contractility and myocardial performance. This relationship was independent of blood pressure. BMI itself was not seen to affect the determinants of diastolic function in this study, suggesting that LV contractility may be affected before one can notice a change in the diastolic function secondary to BMI.

Challenges in Accurate Diagnosis of HCC in FALD: A Case Series.

Patients with single ventricle cardiac disease palliated with Fontan procedures inevitably develop Fontan-Associated Liver Disease (FALD), which poses a significant risk for hepatocellular carcinoma (HCC). Standard imaging criteria for the diagnosis of cirrhosis are not reliable due to parenchymal heterogeneity of FALD. We present 6 cases to demonstrate our center's experience and the challenges in diagnosing HCC within this patient population.

Bicuspid Aortic Valves: an Up-to-Date Review on Genetics, Natural History, and Management.

PURPOSE OF REVIEW: Bicuspid aortic valve (BAV) is the most common congenital cardiac abnormality. It has a wide spectrum of clinical manifestations including aortic regurgitation (AR), aortic stenosis, and an associated aortopathy with a small but increased risk of aortic dissection. This review describes current knowledge of BAV, from anatomy and genetics to a discussion of multifaceted strategies utilized in the management of this unique patient population. This review will also highlight critical knowledge gaps in areas of basic and clinical research to enhance further understanding of this clinical entity. RECENT FINDINGS: The current knowledge regarding pathophysiologic mechanisms, screening, and surveillance guidelines for BAV and the associated aortopathy is discussed. We also discuss current management techniques for aortic valve repair versus replacement, indications for aortic surgery (root or ascending aorta), and the emergence of the Ross procedure as a viable management option not only in children, but also in adolescents and adults. The varied clinical phenotype of the BAV, resulting in its specific complex hemodynamic interactions, renders it an entity which is separate and distinct from the tricuspid aortic valve pathologies. While various aortic histopathologic and protein alterations in BAV patients have been described, it remains unclear if these changes are causal or the result of hemodynamic alterations imposed by sheer stress on the intrinsically dysfunctional BAV. Medical management for patients with BAV with AS, AI, or dilated aortic roots/ascending aortas remains challenging and needs further investigation. More than 50% of patients with BAV will undergo AVR during their lifetime, and more than 25% of patients with BAV undergo aortic surgery performed for dilation of the aortic root or ascending aorta, often concurrently with AVR. The search for the ultimate genetic or epigenetic cause of the different bicuspid phenotypes will ultimately be facilitated by the next-generation sequencing tools that allow for study of large populations at low cost. Improvements in diagnostic and stratification criteria to accurately risk assess BAV patients are critical to this process.

Fontan-Associated Liver Disease: Screening, Management, and Transplant Considerations.

Surgical innovation and multidisciplinary management have allowed children born with univentricular physiology congenital heart disease to survive into adulthood. An estimated global population of 70 000 patients have undergone the Fontan procedure and are alive today, most of whom are <25 years of age. Several unexpected consequences of the Fontan circulation include Fontan-associated liver disease. Surveillance biopsies have demonstrated that virtually 100% of these patients develop clinically silent fibrosis by adolescence. As they mature, there are increasing reports of combined heart-liver transplantation resulting from advanced liver disease, including bridging fibrosis, cirrhosis, and hepatocellular carcinoma, in this population. In the absence of a transplantation option, these young patients face a poor quality of life and overall survival. Acknowledging that there are no consensus guidelines for diagnosing and monitoring Fontan-associated liver disease or when to consider heart transplantation versus combined heart-liver transplantation in these patients, a multidisciplinary working group reviewed the literature surrounding Fontan-associated liver disease, with a specific focus on considerations for transplantation.

Access to cardiac surgery centers for cardiac and non-cardiac hospitalizations in adolescents and adults with congenital heart defects- a descriptive case series study.

BACKGROUND: Individuals with congenital heart defects (CHDs) are recommended to receive all inpatient cardiac and noncardiac care at facilities that can offer specialized care. We describe geographic accessibility to such centers in New York State and determine several factors associated with receiving care there. METHODS: We used inpatient hospitalization data from the Statewide Planning and Research Cooperative System (SPARCS) in New York State 2008-2013. In the absence of specific adult CHD care center designations during our study period, we identified pediatric/adult and adult-only cardiac surgery centers through the Cardiac Surgery Reporting System to estimate age-based specialized care. We calculated one-way drive and public transit time (in minutes) from residential address to centers using R gmapsdistance package and the Google Maps Distance Application Programming Interface (API). We calculated prevalence ratios using modified Poisson regression with model-based standard errors, fit with generalized estimating equations clustered at the hospital level and subclustered at the individual level. RESULTS: Individuals with CHDs were more likely to seek care at pediatric/adult or adult-only cardiac surgery centers if they had severe CHDs, private health insurance, higher severity of illness at encounter, a surgical procedure, cardiac encounter, and shorter drive time. These findings can be used to increase care receipt (especially for noncardiac care) at pediatric/adult or adult-only cardiac surgery centers, identify areas with limited access, and reduce disparities in access to specialized care among this high-risk population.

Medical Therapy for Systemic Right Ventricles: A Systematic Review (Part 1) for the 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.

Patients with systemic morphological right ventricles (RVs), including congenitally corrected transposition of the great arteries and dextro-transposition of the great arteries with a Mustard or Senning atrial baffle repair, have a high likelihood of developing systemic ventricular dysfunction. Unfortunately, there are a limited number of clinical studies on the efficacy of medical therapy for systemic RV dysfunction. We performed a systematic review and meta-analysis to assess the effect of angiotensin-converting enzyme (ACE) inhibitors, angiotensin-receptor blockers (ARBs), beta blockers, and aldosterone antagonists in adults with systemic RVs. The inclusion criteria included age ≥18 years, systemic RVs, and at least 3 months of treatment with ACE inhibitor, ARB, beta blocker, or aldosterone antagonist. The outcomes included RV end-diastolic and end-systolic dimensions, RV ejection fraction, functional class, and exercise capacity. EMBASE, PubMed, and Cochrane databases were searched. The selected data were pooled and analyzed with the DerSimonian-Laird random-effects meta-analysis model. Between-study heterogeneity was assessed with Cochran's Q test. A Bayesian meta-analysis model was also used in the event that heterogeneity was low. Bias assessment was performed with the Newcastle-Ottawa Scale and Cochrane Risk of Bias Tool, and statistical risk of bias was assessed with Begg and Mazumdar's test and Egger's test. Six studies met the inclusion criteria, contributing a total of 187 patients; treatment with beta blocker was the intervention that could not be analyzed because of the small number of patients and diversity of outcomes reported. After at least 3 months of treatment with ACE inhibitors, ARBs, or aldosterone antagonists, there was no statistically significant change in mean ejection fraction, ventricular dimensions, or peak ventilatory equivalent of oxygen. The methodological quality of the majority of included studies was low, mainly because of a lack of a randomized and controlled design, small sample size, and incomplete follow-up. In conclusion, pooled results across the limited available studies did not provide conclusive evidence with regard to a beneficial effect of medical therapy in adults with systemic RV dysfunction. Randomized controlled trials or comparative-effectiveness studies that are sufficiently powered to demonstrate effect are needed to elucidate the efficacy of ACE inhibitors, ARBs, beta blockers, and aldosterone antagonists in patients with systemic RVs.

Cardiovascular Risk Reduction in High-Risk Pediatric Patients: A Scientific Statement From the American Heart Association.

This scientific statement presents considerations for clinical management regarding the assessment and risk reduction of select pediatric populations at high risk for premature cardiovascular disease, including acquired arteriosclerosis or atherosclerosis. For each topic, the evidence for accelerated acquired coronary artery disease and stroke in childhood and adolescence and the evidence for benefit of interventions in youth will be reviewed. Children and adolescents may be at higher risk for cardiovascular disease because of significant atherosclerotic or arteriosclerotic risk factors, high-risk conditions that promote atherosclerosis, or coronary artery or other cardiac or vascular abnormalities that make the individual more vulnerable to the adverse effects of traditional cardiovascular risk factors. Existing scientific statements and guidelines will be referenced when applicable, and suggestions for risk identification and reduction specific to each setting will be described. This statement is directed toward pediatric cardiologists, primary care providers, and subspecialists who provide clinical care for these young patients. The focus will be on management and justification for management, minimizing information on pathophysiology and epidemiology.

Pregnancy and Congenital Heart Disease: A Brief Review of Risk Assessment and Management.

Cardiac disease is a leading cause of morbidity and mortality in pregnant women. An increased prevalence of the cardiovascular disease has been found in women of childbearing age, in which the responsibility of the treating physician extends to the mother and to the unborn fetus. As a result, care of these high-risk pregnant women with cardiovascular disease including those with congenital heart disease (CHD) require a team approach including specialists in maternal-fetal medicine, adult congenital cardiology, and obstetrical anesthesia. The human body undergoes significant amounts of physiological changes during this period of time and the underlying cardiac disease can affect both the mother and the fetus. Today, most female children born with CHD will reach childbearing age. For many women with complex CHD, carrying a pregnancy has a moderate to high risk for both the mother and her fetus. This chapter will review the epidemiology, risk factors, clinical presentation including common signs and symptoms, physiological changes in pregnancy, and the medical approach including cardiac medications, percutaneous interventions, and surgical procedures for pregnant women with CHD.

The emerging psychosocial profile of the adult congenital heart disease patient.

PURPOSE OF REVIEW: With advances in the diagnosis and treatment of congenital heart disease (CHD), over 90% of infants born with CHD now reach adulthood. Patients with CHD require lifelong care and are at an increased risk of psychological distress, neurocognitive deficits, social challenges, and a lower quality of life (QOL). There exists limited research on how to best to support the long-term mental healthcare needs of this unique cohort. There remains limited data on directed mental health interventions and their long-term results in adults with CHD (ACHD). RECENT FINDINGS: Recent findings indicate high incidences of anxiety and depression in this growing population and how key concepts such as trauma, illness identity, and resilience maybe playing a role in the lives of adult patients with CHD. Attention must be focused to theorize and conduct further research to determine the effectiveness of treatment options based upon these new findings. SUMMARY: Many individuals with CHD do not receive appropriate mental health screening and care. The authors advocate for effective psychosocial interventions to address patients' illness identity and resilience, with the goal of an improved QOL in mind.

Addressing maternal mortality: the pregnant cardiac patient.

Cardiac disease in pregnancy is the number one indirect cause of maternal mortality in the United States. We propose a triad solution that includes universal screening for cardiovascular disease in pregnancy and postpartum women, patient education, and institution of a multidisciplinary cardiac team. Additionally, we emphasize essential elements to maximize care for the pregnant cardiac patient based on our experience at our institution in Bronx, NY.

Pediatric Fontan Associated Liver Disease: Non-invasive Evaluation with Serologic Markers and Acoustic Radiation Force Impulse (ARFI) Elastography.

Hepatic fibrosis is a significant complication in adult Fontan patients suggesting development as a function of time since the surgery. Children with Fontan circulation are not routinely assessed for development of liver disease. We aimed to evaluate the effectiveness of serologic biomarkers and acoustic radiation force impulse (ARFI) elastography to detect liver disease in pediatric Fontan patients. Patients ≥ 1 year after Fontan operation prospectively had hepatic US with acoustic radiation force impulse and laboratory testing. Clinical cardiac data (echocardiograms, cardiac catheterizations) were reviewed. Statistical analysis was performed using Pearson's correlation coefficient, Wilcoxon rank-sum test and Kruskal-Wallis test. Forty patients were enrolled with median age of 11 years and median time since Fontan of 6.5 years. Platelet count negatively correlated with years since Fontan (p < 0.000). Thrombocytopenia was noted in 15% of patients with the lowest platelet count of 78 K/cu mm, in a patient >10 years from the Fontan (DORV) operation. Alanine transaminase (ALT, p = 0.034) and aspartate aminotransferase (AST, p = 0.009) were higher in patients with Extracardiac Conduit Fontan and not in other Fontan operations. Heterogeneous echotexture on liver ultrasound correlated with years since Fontan (p = 0.022), however all acoustic radiation force impulse values were elevated (> 1.34 m/s) and did not correlate with age, years since Fontan, labs or imaging. FibroSure values did not correlate with years since Fontan. This suggests that ARFI may be elevated due to passive hepatic congestion, limiting its value in this patient population. Additional testing is necessary to identify reliable noninvasive screening modalities for hepatic fibrosis in Fontan patients. Our study is the largest pediatric study to evaluate ARFI in patients after the Fontan operation and showed increased shear wave speed for all patients with no correlation with time since palliation. Decreasing platelet count may indicate the development of liver fibrosis.

Loss of follow-up in transition to adult CHD: a single-centre experience.

Lapses in care during transition in adult CHD patients lead to increased morbidity and mortality. Previous studies have investigated predictors of poor follow-up in universal healthcare paradigms and select American populations. We studied patients with a wide spectrum of CHD severity within a single American centre to identify factors associated with successful internal transition and maintenance of care. Loss of follow-up was defined as no documented cardiac follow-up for ⩾3 years. Ambulatory cardiology patients aged 16-17 years with CHD were retrospectively enrolled and contacted. A survey assessing demographics, patients' understanding of their CHD, medical status, and barriers to care was administered. On the basis of chart review of 197 enrolled patients, 74 demonstrated loss of follow-up (37.6%). Of 78 successfully contacted patients, 58 were surveyed, of whom a minority had loss of follow-up (n=16). The status of most patients with loss of follow-up was not known. Maintenance of care was associated with greater complexity of CHD (p<0.01), establishment of care with an adult CHD provider (p<0.001), use of prescription medications (p<0.001), and receipt of education emphasising the importance of long-term cardiac care (p<0.003). Insurance lapses were not associated with loss of follow-up (p=0.08). Transition and maintenance of care was suboptimal even within a single centre. Over one-third of patients did not maintain care. Patients with greater-complexity CHD, need for medications, receipt of transition education, and care provided by adult CHD providers had superior follow-up.

Transcatheter Valve-in-Valve Implantation: Failing Tricuspid Bioprosthesis in a Patient with Ebstein’s Anomaly.

Transcatheter valve-in-valve (VIV) implantation has been recently proposed as an alternative to surgical reoperative aortic valve replacement in patients with a failing aortic bioprosthesis. Experience with transcatheter VIV implantation at other valve positions is very limited. Herein is reported the case of an 18-year-old man with Ebstein's anomaly and severe tricuspid valve (TV) regurgitation status after bioprosthetic valve replacement, who developed new dyspnea on exertion three years after the initial valve replacement. Transesophageal echocardiography showed a severely dilated right atrium and new TV stenosis with an immobile leaflet. The patient underwent successful VIV implantation of a 29-mm SAPIEN XT bioprosthetic valve, with resolution of symptoms and no residual TV regurgitation or stenosis at the two-year follow up. Video 1: Degenerative bioprosthetic tricuspid valve. TEE showing the degenerative bioprosthetic tricuspid valve, and color Doppler during systole showing severe tricuspid regurgitation. Video 2: Degenerative bioprosthetic tricuspid valve. Three-dimensional TEE showing stenosis with an immobile leaflet creating a coaptation defect, viewed from the right atrium. Video 3: Transcatheter VIV replacement with a 29-mm Edwards SAPIEN XT deployed within the tricuspid valve prosthesis. Final result after valve implantation, demonstrating a patent valve orifice, and appropriate apposition of transcatheter valve within a pre-existing surgical Carpentier-Edwards bioprosthetic valve, viewed from the right ventricle. Video 4: Transcatheter VIV replacement with a 29-mm Edwards SAPIEN XT deployed within the tricuspid valve prosthesis. Final result after valve implantation, demonstrating a patent valve orifice, and appropriate apposition of transcatheter valve within a pre-existing surgical Carpentier-Edwards bioprosthetic valve, viewed from the right atrium.

Attitudes and perceptions of pregnant women with CHD: results of a single-site survey.

Introduction CHD occurs in about 1% of the United States population, and is now the most common cardiac condition affecting women during pregnancy. METHODS: An anonymous, single-site, cross-sectional, 50-question survey was performed at a national Adult Congenital Heart Disease conference to assess the level of knowledge, attitudes, and perceptions regarding cardiac care during pregnancy in women with CHD. RESULTS: A total of 77 women completed the survey. Among them, 50% (n=39) had moderate and 38% (n=29) had severely complex disease; 30% (n=23) of women were told that pregnancy was contraindicated given their underlying cardiac condition. Almost two-thirds (n=50) report being categorised as high risk for adverse cardiovascular events. During pregnancy, 84% (n=65) preferred their cardiologist to have trained in adult CHD, 44% (n=34) were satisfied with adult cardiologists, and 36% (n=28) with paediatric cardiologists. Only 48% (n=37) were aware that a fetal echocardiogram was indicated. Only 35% (n=27) discussed modes of delivery with their providers, and 70% (n=54) preferred their prenatal cardiology visits at an adult hospital. Up to 85% (n=64) of them had discussed contraception with their cardiologists, and 72% (n=56) felt they needed high-risk maternal-fetal medicine to be involved with their care. CONCLUSIONS: Despite seeking medical care, these pregnant women did not have a full understanding of their condition and their cardiovascular risk during pregnancy. On the basis of these results, further efforts are needed to improve the knowledge, attitudes, and perceptions of women with CHD in relation to their cardiac and obstetric management during pregnancy.

Observations on obesity patterns in tetralogy of Fallot patients from childhood to adulthood.

Obesity is increasingly prevalent, and abnormal body mass index is a risk factor for cardiovascular disease. There are limited data published regarding body mass index and CHD. We tested the hypothesis that body mass index and obesity prevalence are increasing in patients with tetralogy of Fallot over time by analysing time since surgery, age, height, weight, and body mass index among tetralogy of Fallot patients and demographic data from age-matched controls. NYHA class and left ventricular ejection fraction were analysed in adults. Body mass index was categorised into normal, overweight, and obese in this single-centre, retrospective chart review. Data were collected from 137 tetralogy of Fallot patients (71 men:66 women), of whom 40 had body mass index >25 kg/m2. Tetralogy of Fallot patients aged <6 years had lower body mass index (15.9 versus 17.1; p=0.042) until 16-20 years of age (27.4 versus 25.4; p=0.43). For adult tetralogy of Fallot patients, the mean body mass index was 26.5 but not statistically significantly different from the control cohort. Obese adult patients had significantly higher average NYHA class compared with those of normal weight (p=0.03), but no differences in left ventricular ejection fraction by echocardiography (p=0.55) or cardiac MRI (p=0.26) were noted. Lower body mass index was observed initially in tetralogy of Fallot patients, but by late adolescence no significant difference was observed. As adults, tetralogy of Fallot patients with higher body mass index had increased NYHA class but similar left ventricular ejection fraction.