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IntroductionGenetic evaluation is indicated for individuals with congenital heart disease (CHD), especially if extracardiac anomalies are also present. Timely recognition of genetic diagnoses can facilitate medical management and as well as provide assessment of reproductive risk. At least 20% of the pediatric population with CHD has a syndrome or genetic diagnosis. Further, at least 30% have extracardiac congenital malformations and/or neurodevelopmental differences (NDD), and this is known to increase the likelihood of a genetic/syndromic diagnosis. However, little is known regarding whether these statistics also apply to the current population of adults living with CHD, many of whom were born prior to currently available genetic testing.MethodsThe primary aim of this study was to determine the prevalence of documented genetic and syndromic diagnoses in a cohort of adults with CHD followed by a dedicated adult CHD (ACHD) clinic. The secondary aims were to describe genetic testing and genetic referral patterns in this population and identify the presence of extracardiac comorbidities which are known to be indicative of an underlying genetic diagnosis in the pediatric CHD population. To answer these questions, we performed a retrospective chart review on a sample of adults with CHD (excluding those with isolated bicuspid aortic valve) seen at Cincinnati Children’s Hospital in the ACHD clinic between 2010–2021.ResultsAmong 233 adult CHD patients, 36 (14%) had a documented genetic or syndromic diagnosis but only 29 (13.7%) had received genetic testing, while 27 (11.6%) had received genetic referrals. Furthermore, of 170 patients without any documented genetics related care (defined as genetic testing, genetic referrals, or genetic diagnosis), 35 (20%) had at least one congenital and/or neurodevelopmental comorbidity. Factors associated with individuals having received genetics related care included younger age (

Longstanding left-to-right shunting associated with congenital heart disease (CHD) can ultimately lead to pulmonary vascular remodeling, pulmonary arterial hypertension, and shunt reversal, the hallmark feature of Eisenmenger Syndrome (ES). ES is a multisystem disease, with hematologic, cardiovascular, renal, neurologic, immune, and other manifestations, each of which inform its management. Many of the most distinct and clinically important consequences relate to chronic hypoxemia. The incidence of ES in in countries with access to pediatric cardiology and cardiac surgery services has declined in recent decades, due to earlier diagnosis and intervention for CHD. Moreover, in the era of disease targeting therapies (DTT), ES appears to be associated with better quality of life and less limiting symptoms. In addition, observational studies suggest that these therapies, alone and in combination, may be associated with improved survival. Despite these developments, ES mortality remains high, with heart failure being the most common cause of death. In this review, we discuss the pathophysiology of ES, the evolving understanding of risk stratification, as well as recent progress in pharmacologic and surgical management. Ultimately, despite strides in understanding and management of this complex disease, significant knowledge gaps remain.

Esophageal dysmotility is identified as a contraindication to lung transplantation at some centers due to increased risks of acute rejection, pulmonary infection, and chronic lung allograft dysfunction. Phosphodiesterase-type 5 inhibitors (PDE5i) are a cornerstone pharmacotherapy for pulmonary arterial hypertension (PAH) and are known to exert off-target effects that may impact lung transplant candidacy, including impaired esophageal contractility and decreased lower esophageal sphincter tone. We report 2 patients with PAH who were initially declined listing for lung transplantation due to iatrogenic esophageal dysmotility induced by PDE5is. Upon discontinuation of PDE5i therapy, these patients experienced significant improvement in esophageal motility within 14 days and met the criteria for transplant listing at their centers. Recognizing and mitigating the off-target effects of PDE5i medications is critical for maximizing access to transplant for patients with PAH.

IntroductionPatients with congenital heart disease (CHD) often have pulmonary abnormalities and exercise intolerance following cardiac surgery. Cardiac rehabilitation (CR) improves exercise capacity in patients with CHD, but minimal study has been performed to see if resting and dynamic pulmonary performance improves following CR in those with prior cardiac surgery.MethodsThis was a retrospective cohort study of all patients who completed ≥12 weeks of CR from 2018 through 2022. Demographic, cardiopulmonary exercise test (CPET), spirometry, 6-minute walk, functional strength measures, and outcomes data were collected. Data are presented as median[IQR]. A Student's t-test was used for comparisons between groups and serial measurements were measured with a paired t-test. A p

BackgroundCongenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing population of adults living with CHD. The adult CHD (ACHD) population did not have access during childhood to the genetic technologies available today and therefore have not had a robust genetic evaluation that is currently recommended for infants with CHD. Given this potential benefit; the aims of this study were to determine how ACHD cardiologists offer genetics services to patients and identify the indications that influence decision-making for genetics care.MethodsWe performed a descriptive cross-sectional study of ACHD cardiologists. A study-developed questionnaire was distributed via emailed REDCap link. The recruitment email was sent to 104 potential respondents. The survey was open from 06/2022 to 01/2023.ResultsThirty-five cardiologists participated in the study (response rate of 34%). Most cardiologists identified as white (77%) and male (66%). Cardiologists were more likely to refer patients to genetics (91%) than to order testing themselves (57%). Of the testing ordered, chromosomal testing (55%) was ordered more than gene sequencing (14%). Most cardiologists would refer a patient with a conotruncal lesion (interrupted aortic arch) over other indications for a genetics evaluation. There were more reported barriers to ordering genetic testing (66%) compared to referring to genetics for a genetics evaluation (23%). Cardiologists were more confident recognizing features suggestive of a genetic syndrome than ordering the correct test (p = 0.001). Regarding associations between clinical factors and current practices, more years in practice trended towards less referrals and testing. Evaluating a greater number of patients (p = 0.11) and greater confidence recognizing syndromic features (p = 0.12) and ordering the correct test (p = 0.09) were all associated with ordering more testing.ConclusionTesting for microdeletion syndromes is being offered and completed in the ACHD population, however testing for single-gene disorders associated with CHD is being under-utilized. Developing guidelines for genetic testing in adults with CHD could increase access to genetic services, impact medical management, reduce uncertainty regarding prognosis, and inform recurrence risk estimates.

Background Portopulmonary hypertension (PoPH), associated with increased mortality, can limit treatment options for liver diseases. Data on the continuum of clinical risk related to cardiopulmonary hemodynamics in PoPH are lacking. Methods and Results As part of the United States national Veterans Affairs Clinical Assessment, Reporting, and Tracking database, we performed a retrospective cohort study of adults with cirrhosis undergoing right heart catheterization between October 1, 2017, and September 30, 2022. Pulmonary hypertension (mean pulmonary arterial pressure [mPAP] >20 mm Hg without PoPH) and PoPH (mPAP >20 mm Hg+pulmonary artery wedge pressure ≤15 mm Hg+pulmonary vascular resistance ≥3 WU) were defined by right heart catheterization hemodynamics. Multivariable Cox proportional hazards using natural splines for hemodynamic variables were used to evaluate the association between cardiopulmonary hemodynamics and mortality following right heart catheterization. A total of 4409 patients were included in the final analysis, predominantly men (96.3%), with a mean age of 68.5 years. Pulmonary hypertension and PoPH were observed in 71.6% and 10.2% of the cohort, respectively. Compared with a reference cardiac index of 2.5 L/min per m2, the hazard for mortality increased progressively with decreasing cardiac index, even after adjustment for mPAP and pulmonary vascular resistance. The minority of patients with PoPH (N=65, 14.5%) were prescribed pulmonary vasodilator therapy. Conclusions These data suggest that pulmonary hypertension and PoPH are prevalent in veterans with chronic liver disease, but low use of targeted PoPH therapy persists. Cardiac function discriminated mortality risk across a wide range of mPAP and pulmonary vascular resistance values and may diagnose and clarify prognosis in this patient population.

Background Fontan circulation is associated with kidney injury and dysfunction, often unappreciated until Fontan circulatory failure. We hypothesized that cystatin C‐estimated glomerular filtration rate (eGFR) would identify chronic kidney disease more frequently and that urine kidney injury biomarkers would be higher with declining Fontan physiological features. Methods and Results We enrolled 100 ambulatory individuals. Blood and urinary laboratory measurements were compared with demographics and clinically obtained data. Different eGFR equations were used for individuals aged ≥19 years and

Background: Gaps in subspecialty cardiology care could potentially delay identification and care for multi-organ complications common in patients with Fontan circulation. This study analyzed the frequency of gaps in care for individuals with Fontan circulation during the COVID-19 pandemic and associated demographic and clinical factors. Methods: This retrospective study evaluated individuals with Fontan circulation followed at our center since 2010. A gap in care was defined as an absence of any formal cardiology provider-patient contact (clinic visit or telehealth) for >15 months. Results: Over a third of 308 patients with Fontan circulation experienced at least one gap in care between 2010 and 2022, and 77 experienced a gap in care during the COVID-19 pandemic. Of this latter group, 27 (35%) had never experienced a prior gap in cardiology care until the pandemic. Those who experienced gaps in care during the pandemic were on average older (18.0 [IQR 9.6–25.6] vs. 14.2 [7.2–21.2] years, p = 0.01), more likely to be of Black/African American race (23.4% vs 7.4%, p = 0.001), and less likely to have a diagnosis of protein-losing enteropathy or plastic bronchitis (0% vs. 8.6%, p = 0.005). Those without a gap in care during the pandemic were more likely to have utilized telehealth visits (13% vs 3%, p = 0.02). Conclusion: Gaps in care are common and appear to have been exacerbated by the COVID-19 pandemic in those with a Fontan circulation. Such gaps are particularly common among African American and adult patients, and may potentially be mitigated by expanding telehealth access.

Abstract Aims The minute ventilation–carbon dioxide production relationship (VE/VCO2 slope) is widely used for prognostication in heart failure (HF) with reduced left ventricular ejection fraction (LVEF). This study explored the prognostic value of VE/VCO2 slope across the spectrum of HF defined by ranges of LVEF. Methods and results In this single‐centre retrospective observational study of 1347 patients with HF referred for cardiopulmonary exercise testing, patients with HF were categorized into HF with reduced (HFrEF, LVEF

Background: There is an increasing number of adults with congenital heart disease (ACHD), but critically ill patients with ACHD remain understudied. The objective of this study was to evaluate patient characteristics and trends in mortality of mechanically ventilated patients with ACHD. Methods: We evaluated ACHD with an ICD-9 procedure code for mechanical ventilation using the National Inpatient Sample (NIS), a public all-payer inpatient United States database, from 2005 to 2014. Primary and secondary outcomes were evaluated using multivariable logistic regression. Results: There were 10,962 of 77,334,704 discharges, representing 52,876 (0.6%) hospitalizations that were for patients with ACHD who required mechanical ventilation (MV). Mean age was 59 years (interquartile range: 45-71); 45.3% were female patients. The number of patients with ACHD requiring MV increased over the years (2342 to 7775, P < 0.001). Age and comorbidities of this cohort also increased (55 to 59, P < 0.001; 1 to 2, P < 0.001). Case-fatality ratio remained stable over the years (0.254 to 0.259, P = 0.42). Median cost of hospital stay was USD $49,583 and remained stable over the study period (P = 0.42), whereas total cost increased from $115 million to $564 million (P < 0.001). Conclusions: The number of mechanically ventilated ACHD has increased over the years. Remarkably, despite an increase in the age and comorbidity burden in this cohort, case-fatality ratio of these patients and the cost per patient remained stable. Nonetheless, there is a growing need for health care resources in the management of this cohort of patients. Further studies will need to be conducted to evaluate the underlying physiological impact and prognosis of MV in specific subsets of ACHD. Résumé: Introduction: Il existe un nombre croissant d’adultes atteints d’une cardiopathie congénitale (CC), mais peu d’études portent sur les patients gravement atteints d’une CC. L’objectif de la présente étude était l’évaluation des caractéristiques des patients et des tendances de la mortalité des patients atteints d’une CC sous ventilation mécanique. Méthodes: Nous avons évalué les patients atteints d’une CC sous ventilation mécanique (VM, code ICD-9) à l’aide de l’échantillon national des patients hospitalisés (NIS, National Inpatient Sample), une base de données sur les patients hospitalisés des États-Unis accessible au public, de 2005 à 2014. Nous avons évalué les critères de jugement principal et secondaire à l’aide de la régression logistique multivariée. Résultats: Les 10 962 sorties d’hôpital sur 77 334 704, soit 52 876 (0,6 %) hospitalisations, concernaient des patients atteints d’une CC qui avaient nécessité une VM. L’âge moyen était de 59 ans (écart interquartile : 45-71); 45,3 % étaient des femmes. Le nombre de patients atteints d’une CC qui avaient nécessité une VM augmentait au fil des années (de 2 342 à 7 775, P < 0,001). L’âge et les comorbidités de cette cohorte augmentaient aussi (de 55 à 59, P < 0,001; de 1 à 2, P < 0,001). Le taux de létalité restait stable au fil des années (de 0,254 à 0,259, P = 0,42). Le coût médian des séjours à l’hôpital était de 49 583 $ US et restait stable au cours de la période de l’étude (P = 0,42), alors que le coût total passait de 115 M$ à 564 M$ (P < 0,001). Conclusions: Le nombre de patients atteints d’une CC sous VM a augmenté au fil des années. Étonnamment, en dépit d’une augmentation de l’âge et du fardeau des comorbidités dans cette cohorte, le taux de létalité de ces patients et le coût par patient demeurait stable. Néanmoins, il existe un urgent besoin de ressources de soins de santé pour la prise en charge de cette cohorte de patients. Il sera nécessaire de mener d’autres études pour évaluer les effets physiologiques sous-jacents et le pronostic des patients sous VM dans des sous-ensembles spécifiques de CC.

BackgroundLittle is known about how sport and school restrictions early during the novel coronavirus 2019 (COVID-19) pandemic impacted exercise performance and body composition in youth with heart disease (HD).MethodsA retrospective chart review was performed on all patients with HD who had serial exercise testing and body composition via bioimpedance analysis performed within 12 months before and during the COVID-19 pandemic. Formal activity restriction was noted as present or absent. Analysis was performed with a paired t-test.ResultsThere were 33 patients (mean age 15.3 ± 3.4 years; 46% male) with serial testing completed (18 electrophysiologic diagnosis, 15 congenital HD). There was an increase in skeletal muscle mass (SMM) (24.1 ± 9.2–25.9 ± 9.1 kg, p

Abstract Aims The Fontan operation has resulted in improved survival in patients with single‐ventricle congenital heart disease. As a result, there is a growing population of teenagers and adults with a Fontan circulation. Many co‐morbidities have been increasingly recognized in this population due to the unique features of the Fontan circulation. Standardization of how Fontan co‐morbid conditions are defined will help facilitate understanding, consistency and interpretability of research and clinical experience. Unifying common language usage in Fontan is a critical precursor step for data comparison of research findings and clinical outcomes and ultimately accelerating improvements in management for this growing group of patients. This manuscript aimed to create unified definitions for morbidities seen after the Fontan palliation. Methods In association of many congenital heart disease organizations, this work used Delphi methodology to reach a broad consensus among recognized experts regarding commonly used terms in Fontan care and research. Each definition underwent at least three rounds of revisions to reach a final definition through surveys sent to experts in the field of single‐ventricle care. Results The process of reaching a consensus on multiple morbidities associated with the Fontan procedure is summarized in this manuscript. The different versions that preceded reaching the consensus are also presented in the Supporting Information. Table 1 represents the final definitions according to the consensus. Conclusions We propose the use of these definitions for clinical care, future research studies, registry development and clinical trials.

Introduction: The number of heart transplants in adults with congenital heart disease (CHD) is increasing, though outcomes remain unfavorable compared to those without CHD. The etiology of this mortality difference remains uncertain. Panel reactive antibody (PRA) is a predictor of survival post-transplantation, and adult CHD patients have been observed to have higher PRA levels. Here we assessed the relationship between PRA and outcomes in adult patients with CHD who underwent heart transplantation. Methods: This is a retrospective cohort study using the 2004–2015 ISHLT Thoracic Organ Transplant Registry to investigate the role of sensitization in the observed excess mortality. The composite outcome of mortality or graft failure within 1-year of transplantation was compared among CHD vs. non-CHD recipients, according to sensitization as measured by pre-transplant panel reactive antibodies (PRA). Results: Adults with CHD (n = 1188) had higher PRA level compared to non-CHD (n = 38,201) recipients (27% vs. 18% PRA>10%, respectively, p 10% (OR 1.1 [0.6–2.0], p = 0.852). Conclusions: Adults with CHD are more likely to have higher sensitization and worse outcomes than non-CHD recipients. Higher sensitization rates alone do not fully explain their excess risk of adverse outcomes after heart transplantation.

As more adults survive with congenital heart disease, the need to better understand the long‐term complications, and comorbid disease will become increasingly important. Improved care and survival into the early and late adult years for all patients equitably requires accurate, timely, and comprehensive data to support research and quality‐based initiatives. National data collection in adult congenital heart disease will require a sound foundation emphasizing core ethical principles that acknowledge patient and clinician perspectives and promote national collaboration. In this document we examine these foundational principles and offer suggestions for developing an ethically responsible and inclusive framework for national ACHD data collection.

Background: Biomarkers are increasingly part of assessing and managing heart failure (HF) in adults with congenital heart disease (CHD). Objectives: To understand the response of cardiac biomarkers with therapy for acute decompensated heart failure (ADHF) and the relationship to prognosis after discharge in adults with CHD. Design: A prospective, observational cohort study with serial blood biomarker measurements. Settings: Single-center study in the inpatient setting with outpatient follow-up. Participants: Adults (≥18 years old) with CHD admitted with ADHF between August 1, 2019, and March 1, 2020. Exposure: We measured body mass, Kansas City Cardiomyopathy Questionnaire (KCCQ-12) score, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and high-sensitivity C-reactive protein (hsCRP) at enrollment, discharge, and 1st clinic follow-up visit; soluble suppression of tumorigenicity 2 (sST2) was measured at the first two time points. Measures: Univariate regression assessed the association between changes in weight, biomarkers, and changes in KCCQ-12 scores, between enrollment and discharge (ΔHospitalization) and between discharge and 1st clinical follow-up visit (ΔPost−discharge). Wilcoxon rank-sum tests assessed the association between change in biomarkers, KCCQ-12 scores, and the composite outcome of cardiovascular death or rehospitalization for ADHF. Results: A total of 26 patients were enrolled. The median age was 51.9 years [IQR: 38.8, 61.2], 13 (54.2%) were women, and median hospital stay was 6.5 days [IQR: 4.0, 15.0] with an associated weight loss of 2.8 ​kg [IQR -5.1, −1.7]. All three cardiac biomarkers decreased during hospitalization with diuresis while KCCQ-12 scores improved; a greater decrease in sST2 was associated with an improved KCCQ-12 symptom frequency (SF) subdomain score (p ​= ​0.012), but otherwise, there was no significant relationship between biomarkers and KCCQ-12 change. Change in hsCRP and NT-proBNP after discharge was not associated with the composite outcome (n ​= ​8, vs. n ​= ​16 who did not experience the outcome; Δ Post-discharge hsCRP +5.1 vs. −1.0 ​mg/l, p ​= ​0.061; NT-proBNP +785.0 vs. +130.0 ​pg/ml, p ​= ​0.220). Conclusions: Serial biomarker measurements respond to acute diuresis in adults with CHD hospitalized for ADHF. These results should motivate further research into the use of biomarkers to inform HF therapy in adults with CHD.

The Fontan or Fontan Kreutzer procedure is the culmination of staged, surgical palliation of functional single ventricle congenital heart disease, offering the potential for survival and good quality of life well into adulthood. As more patients with Fontan circulation age, a variety of complications involving almost every organ system may occur. Protein-losing enteropathy is a major cause of morbidity and mortality after the Fontan operation, occurring more often in patients with adverse hemodynamics and presenting weeks to years after Fontan surgery. The causes are not well understood, but likely include a combination of lymphatic insufficiency, high central venous pressure, loss of heparan sulfate from intestinal epithelial cells, abnormal mesenteric circulation, and intestinal inflammation. A comprehensive evaluation including multimodality imaging and cardiac catheterization is necessary to diagnose and treat any reversible causes. In advanced cases, early referral for heart transplantation evaluation or lymphatic decompression procedures (if the single ventricle function remains adequate) is indicated. Despite the improvement in detection and management options, the mortality remains high. Standardization of protein-losing enteropathy definition and management strategies will help facilitate interpretation of research and clinical experience, potentially fostering the identification of new therapies. Based on the published data, this review suggests a standardized approach to diagnosis and treatment.

Background: The Fontan circulation is associated with low skeletal muscle mass, which affects the accuracy of creatinine-based glomerular filtration rate estimates (eGFR/GFR). Cystatin C, another filtration marker, is less impacted by muscle mass. We examined associations between characteristics of individuals with a Fontan circulation and both creatinine-based and cystatin C-based eGFR. Methods and results: This single-center retrospective study included 107 individuals with a Fontan circulation who had clinical measurements of serum cystatin C and creatinine. GFR was estimated using different equations for adults (≥19 years of age, Chronic Kidney Disease-Epidemiology Collaboration equations for both creatinine and cystatin C) and children (

Background American Heart Association and American College of Cardiology consensus guidelines introduce an adult congenital heart disease anatomic and physiological (AP) classification system. We assessed the association between AP classification and clinical outcomes. Methods and Results Data were collected for 1000 outpatients with ACHD prospectively enrolled between 2012 and 2019. AP classification was assigned based on consensus definitions. Primary outcomes were (1) all‐cause mortality and (2) a composite of all‐cause mortality or nonelective cardiovascular hospitalization. Cox regression models were developed for AP classification, each component variable, and additional clinical models. Discrimination was assessed using the Harrell C statistic. Over a median follow‐up of 2.5 years (1.4–3.9 years), the composite outcome occurred in 185 participants, including 49 deaths. Moderately or severely complex anatomic class (class II/III) and severe physiological stage (stage D) had increased risk of the composite outcome (AP class IID and IIID hazard ratio, 4.46 and 3.73, respectively, versus IIC). AP classification discriminated moderately between patients who did and did not suffer the composite outcome (C statistic, 0.69 [95% CI, 0.67–0.71]), similar to New York Heart Association functional class and NT‐proBNP (N‐terminal pro‐B‐type natriuretic peptide); it was more strongly associated with mortality (C statistic, 0.81 [95% CI, 0.78–0.84]), as were NT‐proBNP and functional class. A model with AP class and NT‐proBNP provided the strongest discrimination for the composite outcome (C statistic, 0.73 [95% CI, 0.71–0.75]) and mortality (C statistic, 0.85 [95% CI, 0.82–0.88]). Conclusions The addition of physiological stage modestly improves the discriminative ability of a purely anatomic classification, but simpler approaches offer equivalent prognostic information. The AP system may be improved by addition of key variables, such as circulating biomarkers, and by avoiding categorization of continuous variables.

Background: The Model for End-stage Liver Disease excluding INR (MELD-XI) is commonly used to identify patients with a Fontan circulation at increased risk of adverse events, However, this approach has not been evaluated in unselected ambulatory adults. Methods: We enrolled a cohort of 163 outpatients with a Fontan circulation aged ≥18-years in the Boston Adult Congenital Heart Disease Biobank from 2012 to 2018. Survival analysis was performed to assess the relationship between MELD-XI with both all-cause mortality and a composite outcome of mortality or non-elective cardiovascular hospitalization. Results: Mean age was 30.2±9.7 years, and 41.1% were women. Most had a lateral tunnel Fontan (62.6%). MELD-XI score averaged 10.6±2.1 (median = 13). Both creatinine and total bilirubin were ≤1.0 mg/dL in 94/163 (57.7%), translating to the lowest possible score. MELD-XI18. During follow-up of 3.2±2.2 years, the composite outcome occurred in 58 patients (35.6%), with 16 deaths (9.8%). Most deaths (n = 11, 68.8%) and composite outcomes (n = 39, 67.2%) occurred among patients with MELD-XI less than the median. MELD-XI score did not differ between those who did and did not have events (death: 10.8±2.2 vs. 10.6±2.1; p = 0.92; composite outcome: 10.6±2.2 vs. 10.7±2.1, p = 0.45). Likewise, survival analysis did not suggest an association between MELD-XI and either outcome. Conclusions: MELD-XI score does not appear to be associated with risk for adverse outcomes in an unselected cohort of outpatients with a Fontan circulation. Prior findings may reflect conditioning on a clinical referral for laboratory testing.

Background Hepatic steatosis, caused by nonalcoholic fatty liver disease, is a leading cause of chronic liver disease. The interplay between hepatic steatosis and the development of liver disease following the Fontan procedure is not well understood. This study examined the prevalence and associations of hepatic steatosis in patients with a Fontan circulation. Methods and Results This was a single‐center retrospective study of 95 patients with a Fontan circulation with liver magnetic resonance imaging performed between 2012 and 2019. The average age at magnetic resonance imaging was 21.5±8.5 years. The percent liver fat signal was determined using magnetic resonance chemical shift‐encoded proton density fat fraction imaging. Hepatic steatosis was defined as liver fat ≥5% and was present in 10.5% of the cohort. The presence of hepatic steatosis was associated with higher body mass index (29±4 versus 24±6 kg/m2, P=0.006), a higher frequency of obesity (50% versus 12%, P=0.015), lower high‐density lipoprotein cholesterol (35±9 versus 43±14 mg/dL, P=0.050), and greater subcutaneous fat thickness (2.6±0.7 versus 1.8±1.0 cm, P=0.043). There was no association between hepatic steatosis and cardiovascular imaging or hemodynamic variables from cardiac catheterization. Conclusions Risk factors for hepatic steatosis in patients with Fontan circulation include obesity and dyslipidemia, similar to what is seen in the general population. Fontan hemodynamics were not associated with hepatic steatosis.

Background Hypocholesterolemia is a marker of liver disease, and patients with a Fontan circulation may have hypocholesterolemia secondary to Fontan‐associated liver disease or inflammation. We investigated circulating lipids in adults with a Fontan circulation and assessed the associations with clinical characteristics and adverse events. Methods and Results We enrolled 164 outpatients with a Fontan circulation, aged ≥18 years, in the Boston Adult Congenital Heart Disease Biobank and compared them with 81 healthy controls. The outcome was a combined outcome of nonelective cardiovascular hospitalization or death. Participants with a Fontan (median age, 30.3 [interquartile range, 22.8–34.3 years], 42% women) had lower total cholesterol (149.0±30.1 mg/dL versus 190.8±41.4 mg/dL, P

Background Adults with a Fontan circulation tend to have myopenia and elevated adiposity when measured by dual energy x‐ray absorptiometry. Bioelectrical impedance analysis is an alternative validated approach to assess body composition. We used bioelectrical impedance analysis to compare body composition between pediatric patients with a Fontan circulation and control individuals without heart disease. Methods and Results A retrospective chart review identified all patients aged

Abstract The Fontan procedure has provided patients with single ventricle physiology extended survival into adulthood and in many cases has improved their quality of life. Atrioventricular valve regurgitation (AVVR) is common in single ventricle patients and is associated with increased risk of mortality. AVVR is more common in patients with a systemic tricuspid or common atrioventricular valve but is generally progressive irrespective of underlying valve morphology. AVVR can be attributable to diverse structural and functional abnormalities at multiple levels of the valvar apparatus, as well as ventricular dysfunction and dilation. Multiple imaging modalities including recent advances in 3‐dimensional echocardiography and cross‐sectional imaging have been used to further understand AVVR. Surgery to address AVVR must be tailored to the underlying mechanism and the timing of surgical repair should be chosen carefully. In this review, we discuss the etiologies, treatment options, surgical timing, and outcomes of valve repair or replacement for AVVR in patients with single ventricle congenital heart disease, with a focus on those with a Fontan circulation as AVVR is associated with increased risk for Fontan failure and mortality. In‐depth understanding of the current literature will help guide clinicians in their approach and management of AVVR in this population.

Background In adults with acquired heart disease, depression is common and associated with adverse outcomes. Depression may also be important in adults with congenital heart disease (CHD). Methods and Results We conducted a cohort study of outpatients with CHD, aged ≥18 years, enrolled in a prospective biobank between 2012 and 2017. Clinical data were extracted from medical records. Survival analysis assessed the relationship between depression, defined by a history of clinical diagnosis of major depression, with all‐cause mortality and a composite outcome of death or nonelective cardiovascular hospitalization. A total of 1146 patients were enrolled (age, 38.5±13.8 years; 49.6% women). Depression had been diagnosed in 219 (prevalence=19.1%), and these patients were more likely to have severely complex CHD (41.3% versus 33.7%; P=0.028), cyanosis (12.1% versus 5.7%; P=0.003), and worse functional class (≥II; 33.3% versus 20.4%; P

Background People with a Fontan circulation experience a range of physical, psychosocial and neurodevelopmental challenges alongside, or caused by, their cardiac condition, with significant consequences for health‐related quality of life (HRQOL). We meta‐analyzed HRQOL outcomes reported by people with a Fontan circulation or their proxies and evaluated predictors of poorer HRQOL. Methods and Results Six electronic databases were searched for peer‐reviewed, English‐language articles published before March 2019. Standardized mean differences (SMD) were calculated using fixed and random‐effects models. Fifty articles reporting on 29 unique studies capturing HRQOL outcomes for 2793 people with a Fontan circulation and 1437 parent‐proxies were analyzed. HRQOL was lower in individuals with a Fontan circulation compared with healthy referents or normative samples (SMD, −0.92; 95% CI, −1.36 to −0.48; P

Background This study assessed trends in heart failure (HF) hospitalizations and health resource use in patients with adult congenital heart disease (ACHD). Methods and Results The Nationwide Inpatient Sample was used to compare ACHD with non‐ACHD HF hospitalization and health resource trends. Health resource use was assessed using total hospital charges, hospital length of stay, and procedural burden. A total of 87 175±2676 ACHD‐related HF hospitalizations occurred between 1998 and 2011. During this time, ACHD HF hospitalizations increased 91% (4620±438–8809±740, P

BackgroundAdults with repaired coarctation of the aorta (CoA) have reduced long‐term survival compared with the general population. This study aimed to determine whether CoA is independently associated with premature ischemic and hemorrhagic stroke in the contemporary era. Methods and ResultsThis was a cross‐sectional study utilizing the National Inpatient Sample database from 2005 to 2014. We hypothesized that patients with CoA are hospitalized with ischemic and hemorrhagic stroke at a younger age compared with the general population. To test this hypothesis, we compared the age at stroke in patients with and without a diagnosis of CoA using simple and multivariable weighted linear regression. Among 4 894 582 stroke discharges, 207 had a diagnosis of CoA. Patients with CoA had strokes at significantly younger age compared with patients without CoA: 18.9 years younger for all‐cause stroke (P

BackgroundGalectin‐3 may play a role in cardiac and noncardiac fibrosis, and elevated circulating levels of this protein predict adverse outcomes in patients with heart failure who do not have congenital heart disease. We investigated galectin‐3 in adults with single‐ventricle Fontan circulation, patients who are prone to premature clinical deterioration in the context of extensive multiorgan fibrosis. Methods and ResultsWe measured plasma galectin‐3 concentrations in 70 ambulatory adult Fontan patients and 21 age‐ and sex‐matched control participants. Galectin‐3 level was significantly higher in the Fontan group (11.85 ng/mL, interquartile range 9.9 to 15.0 ng/mL) versus the control group (9.4 ng/mL, interquartile range 8.2 to 10.8 ng/mL; P2 SD above the control group mean value) had a higher risk of nonelective hospitalization or death (hazard ratio 6.0, 95% CI 2.1 to 16.8, P