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Background: For patients with d-loop transposition of the great arteries (d-TGA) with a systemic right ventricle after an atrial switch operation, there is a need to identify risks for end-stage heart failure outcomes. Objectives: The authors aimed to determine factors associated with survival in a large cohort of such individuals. Methods: This multicenter, retrospective cohort study included adults with d-TGA and prior atrial switch surgery seen at a congenital heart center. Clinical data from initial and most recent visits were obtained. The composite primary outcome was death, transplantation, or mechanical circulatory support (MCS). Results: From 1,168 patients (38% female, age at first visit 29 ± 7.2 years) during a median 9.2 years of follow-up, 91 (8.8% per 10 person-years) met the outcome (66 deaths, 19 transplantations, 6 MCS). Patients experiencing sudden/arrhythmic death were younger than those dying of other causes (32.6 ± 6.4 years vs 42.4 ± 6.8 years; P < 0.001). There was a long duration between sentinel clinical events and end-stage heart failure. Age, atrial arrhythmia, pacemaker, biventricular enlargement, systolic dysfunction, and tricuspid regurgitation were all associated with the primary outcome. Independent 5-year predictors of primary outcome were prior ventricular arrhythmia, heart failure admission, complex anatomy, QRS duration >120 ms, and severe right ventricle dysfunction based on echocardiography. Conclusions: For most adults with d-TGA after atrial switch, progress to end-stage heart failure or death is slow. A simplified prediction score for 5-year adverse outcome is derived to help identify those at greatest risk.

[Aims] To investigate the incidence of major adverse ventricular arrhythmias and related events (MAREs) and to develop a stratification tool predicting MAREs in adults with a systemic right ventricle (sRV)., [Methods and results] In a multicentre approach, all adults (≥16 years old) with a sRV undergoing follow-up between 2000 and 2018 were identified. The incidence of MAREs, defined as sudden cardiac death, sustained ventricular tachycardia, and appropriate implantable cardioverter-defibrillator (ICD) therapy, was analysed. The association of MAREs with clinical, electrical, and echocardiographic parameters was evaluated. A total of 1184 patients (median age 27.1 years; interquartile range 19.9–34.9 years; 59% male; 70% with atrial switch repair for D-transposition of the great arteries) were included. The incidence of MAREs was 6.3 per 1000 patient-years. On multivariate analysis, age, history of heart failure, syncope, QRS duration, severe sRV dysfunction and at least moderate left ventricular outflow tract obstruction were retained in the final model with a C-index of 0.78 [95% confidence interval (CI) 0.72–0.83] and a calibration slope of 0.93 (95% CI 0.64–1.21). For every five ICDs implanted in patients with a 5-year MARE risk >10%, one patient may potentially be spared from a MARE., [Conclusion] Sudden cardiac death remains a devastating cause of death in a contemporary adult cohort with a sRV. A prediction model based on clinical, electrocardiographic, and echocardiographic parameters was devised to estimate MARE risk and to identify high-risk patients who may benefit from primary prevention ICD implantation., This work was supported by the Fédération Française de Cardiologie and the Assistance Publique des Hôpitaux de Paris.

[Background] To describe long-term survival and cardiovascular events in adult patients with single ventricle physiology (SVP) without Fontan palliation, focusing on predictors of mortality and comparing groups according to their cardiovascular physiology., [Methods] Multicentre observational and retrospective study including adult patients with SVP without Fontan palliation since their first adult clinic visit. The cohort was subdivided into 3 groups: Eisenmenger, restricted pulmonary flow, and aortopulmonary shunt. Death was considered as the main end point. Other clinical outcomes occurring during follow-up were considered as secondary end points., [Results] A total of 146 patients, mean age 32.5 ± 11.1 years, were analysed. Over a mean follow-up of 7.3 ± 4.1 years, 33 patients (22.6%) died. Survival was 86% and 74% at 5 and 10 years, respectively. Right ventricular morphology was not associated with higher mortality. Four variables at baseline were related to a higher mortality: at least moderate atrioventricular valve regurgitation, platelet count < 150 × 103/mm3, GFR < 60 mL/min/1.73 m2, and QRS > 120 ms). A total of 34.2% of patients were admitted to the hospital due to heart failure, and 7.5% received a heart transplant. Other cardiovascular outcomes were also frequent: atrial arrhythmias in 19.2%, stroke in 15.1%, and pacemaker/implantable cardioverter-defibrillator in 6.2%/2.7%., [Conclusions] Adult patients with SVP who had not undergone Fontan exhibit a high mortality rate and frequent major cardiovascular events. At least moderate atrioventricular valve regurgitation, thrombocytopenia, renal dysfunction, and QRS duration > 120 ms at baseline visit allow identification of a cohort of patients at higher risk of mortality., [Objectif] Décrire la survie à long terme et les événements cardiovasculaires chez les patients adultes présentant une physiologie à ventricule unique (PVU) sans intervention de Fontan, en se concentrant sur les prédicteurs de mortalité et en comparant les groupes en fonction de leur physiologie cardiovasculaire., [Méthodes] Étude observationnelle et rétrospective, multicentrique, incluant des patients adultes atteints de PVU sans intervention de Fontan depuis leur première visite en clinique adulte. La cohorte a été subdivisée en trois groupes : syndrome d'Eisenmenger, flux pulmonaire restreint ou fenêtre aorto-pulmonaire. Le décès a été considéré comme le critère principal d'évaluation. Les autres observations cliniques survenues au cours du suivi ont été considérées comme des critères secondaires., [Résultats] Un total de 146 patients, d'un âge moyen de 32,5 ± 11,1 ans, a été considéré pour l’analyse. Sur un suivi moyen de 7,3 ± 4,1 ans, 33 patients (22,6 %) sont décédés. La survie était de 86 % et 74 % à 5 et 10 ans, respectivement. La morphologie du ventricule droit n'était pas associée à une mortalité plus élevée. Quatre variables initiales étaient liées à une mortalité plus élevée : régurgitation au moins modérée de la valve auriculo-ventriculaire, numération plaquettaire < 150 × 103/mm3, DFG < 60 ml/min/1,73 m2 et QRS > 120 ms). Au total, 34,2 % des patients ont été admis à l'hôpital en raison d'une insuffisance cardiaque, et 7,5 % ont reçu une transplantation cardiaque. D'autres conséquences cardiovasculaires étaient également fréquentes : arythmies auriculaires dans 19,2 % des cas, accident vasculaire cérébral dans 15,1 % des cas et stimulateur cardiaque/ défibrillateur cardioverteur implantable dans 6,2 % / 2,7 % des cas., [Conclusions] Les patients adultes atteints de PVU qui n'ont pas subi d'intervention de Fontan présentent un taux de mortalité élevé et des événements cardiovasculaires majeurs fréquents. Une régurgitation au moins modérée de la valve auriculo-ventriculaire, une thrombocytopénie, une dysfonction rénale et une durée du QRS > 120 ms lors de la visite initiale permettent de distinguer une cohorte de patients présentant un risque de mortalité plus élevé.

We aimed to provide a comprehensive assessment of exercise physiology of adult Fontan patients (FP) and factors limiting functional capacity (FC). A prospective single-centre study of 37 FP aged ≥16years and 19 healthy-controls (HC), who underwent CPET on cycle-ergometer in February-March 2022. Lung function was impaired in FP, mostly mild restrictive pattern (56.8%). Mean peakVO2 was 21±5.4ml/kg/min, 55% predicted. Morphologically left-single ventricle showed higher peakVO2%predicted (57.4±14.4% vs 43.4±8.1%, p=0.045). A lower peakVO2%predicted was observed in patients with an early flattened and/or descending O2 pulse at maximal exertion (52±14% vs 62±12.5, p=0.04 and 47.6±9% vs 60±14 respectively, p=0.018) and chronotropic insufficiency (53±12% vs 69.8±20%, p=0.008). Strong positive correlation was observed between %OUES and peakVO2%predicted (r=0.726, p>0.001). PeakVO2%predicted was progressively higher as the level of physical activity increased (low-level 49.5±14%, moderate-level 55±12%, intense-level 69±20%). FP showed lower inspiratory muscle strength compared to HC but it was no statistically associated with either peakVO2 or VE/VCO2 slope. In FP OUES is a useful submaximal parameter in those who fail to reach maximal exertion. Chronotropic insufficiency and early flattened or descending oxygen pulse slope were factors associated with low peakVO2. Regular intense physical activity improves FC. Although FP have inspiratory muscle weakness, its impact on FC is unclear.

BackgroundA risk model has been proposed to provide a patient individualized estimation of risk for major clinical events (heart failure, ventricular arrhythmia, all-cause mortality) in patients with transposition of the great arteries (D-TGA) repaired by an atrial switch operation. The aim of this study was to externally validate the model.MethodsA retrospective, multicentric, longitudinal cohort of 417 patients with D-TGA (median age 24 years at baseline [interquartile range 18-30], 63% male) independent of the model development and internal validation cohort was studied. Data on risk model predictors (age >30 years, prior ventricular arrhythmia, age >1 year at atrial switch, moderate or severe right ventricular dysfunction, severe tricuspid regurgitation and at least mild left ventricular (LV) dysfunction) were collected from the time of baseline clinical evaluation. The performance of the prediction model in predicting risk at 5 years was assessed.ResultsTwenty-five patients (5.9%) met the major clinical events endpoint within 5 years. Model validation showed a good discrimination between high and low 5-year risk patients (Harrell’s C-index of 0.73 (95% CI 0.65–0.81)) but tended to overestimate this risk (calibration slope of 0.20 (95% CI 0.03–0.36)). We separately evaluated predictors of major clinical events in our cohort. History of heart failure and at least mildly impaired sub pulmonary LV function remained the strongest predictors of major clinical events in this population.ConclusionsWe reported the first external validation of a major clinical events risk model in a large D-TGA patient population. Although a good discrimination, the model tends to overestimate the absolute 5-year risk. Subpulmonary LV dysfunction appears to be a key marker in the prognosis of patients with Senning and Mustard. Further optimizing risk models are needed to individualize risk predictions in D-TGA patients.Clinical PerspectiveWhat is new?This is the first external validation of a risk model for major clinical events in D-TGA patients after atrial switch and the largest study emphasizing the importance of assessing subpulmonary left ventricle (LV) function in these patients.What are clinical implications?Risk model for major clinical events can be used to discriminate patients at low from those at intermediate and high risk. This tool helps determine follow-up intensity, and support management decisions specifically for intermediate- and high-risk patients with a history of heart failure and at least mild sub pulmonary left ventricle (LV) dysfunction.Sub-pulmonary LV, which can be the “forgotten chamber” in these patients with a systemic right ventricle, should be carefully and regularly surveyed.Patients from the intermediate/high-risk group with history of heart failure, and subpulmonary LV dysfunction have a poor prognosis and should be referred for consideration of advanced therapies

Adult congenital heart disease (ACHD) patients represent a growing population with increasing use of acute emergency department (ED) care. Providing comprehensive ED care necessitates an understanding of the most common clinical scenarios to improve morbidity and mortality in this population. The aim of this position document is to provide a consensus regarding the management of the most common clinical scenarios of ACHD patients presenting to the ED.

[Background] Irrespective of initial treatment for congenital heart disease (CHD) in childhood, CHD is a lifelong condition, leaving patients at risk for complications. To support uninterrupted, age- and development-based care for young persons with CHD, guidelines and consensus papers emphasise the need for formal transition programmes, including transfer to adult CHD (ACHD) clinics. Here, we surveyed existing transfer and transition programmes in European ACHD centres. Our aims were to provide a contemporary view of transitional care for patients with CHD and to evaluate progress over the last decade., [Methods] We conducted a descriptive, cross-sectional survey in 96 ACHD centres in Europe. A specific survey form was developed that sampled the practices of transfer and/or transition. We used a transfer-transition index to quantify adherence to quality indicators of successful transfer and transition., [Results] Of the 96 ACHD centres, 40 (41.7%) offered a formal transition, and 85 (88.5%) had structured transfer from paediatric to ACHD care. Although 31% of the centres performed at a ‘good’ level on the transfer-transition index, only 4 (4.2%) satisfied all criteria. Most centres with a transition programme offered education and support through a dedicated transition specialist, who was a master's-prepared nurse in most centres. A minority of the ACHD centres offered a flexible transition process, starting at least two years before transfer., [Conclusions] Nearly half of the included ACHD centres offered a formal transition programme, and almost 90% offered structured transfer. Despite some improvements since 2009, most of the programmes lacked an age- and development-based approach., This work was supported by the ESC Working Group on Grown-Up Congenital Heart Disease www.escardio.org/Working-groups/Working-Group-on-Adult-Congenital-Heart-Disease/About

[ES] Introducción y objetivos: Hay pocos datos sobre la evolución en adultos de la dilatación de la raíz neoaórtica (RAO) y la insuficiencia valvular neoaórtica (IA) tras la cirugía de switch arterial (SA) en la transposición de grandes arterias. Métodos: Análisis retrospectivo de 152 pacientes con transposición de grandes arterias, mayores de 15 años, intervenidos mediante SA y seguidos durante 4,9 ± 3,3 años en 2 centros de referencia. Se analizaron los cambios de diámetro de la RAO ajustados a superficie corporal y la progresión a grado moderado/grave de la IA con ecocardiografías seriadas. Se realizó un modelo de regresión de Cox para identificar factores predictores de progresión de la IA. Resultados: Inicialmente, 4 pacientes (2,6%) presentaban IA grave (3 habían precisado cirugía valvular) y 9 (5,9%) moderada. La RAO basal media era 20,05 ± 2,4 mm/m2, y al final del seguimiento, 20,73 ± 2,8 mm/m2 (p < 0,001), con un crecimiento medio de 0,14 (IC95%, 0,07-0,2) mm/m2/año. La IA progresó en 20 (13,5%) y 6 (4%) fueron intervenidos. La progresión de IA se asoció con válvula bicúspide, IA inicial, dilatación de la RAO inicial y crecimiento de la RAO. La válvula bicúspide (HR = 3,3; IC95%, 1,1-15,2; p = 0,037), la IA inicial (HR = 5,9; IC95%, 1,6-59,2; p = 0,006) y el crecimiento de la RAO (HR = 4,1; IC95%, 2-13,5; p = 0,023) resultaron predictores independientes. Conclusiones: La dilatación de la RAO y la IA progresan en el adulto joven intervenido mediante SA. La válvula bicúspide, la IA basal y el crecimiento de la RAO son predictores de progresión de IA., [EN] Introduction and objectives: There are limited data on the long-term development of neoaortic root dilatation (NRD) and neoaortic valve regurgitation (AR) after arterial switch operation (ASO) for transposition of the great arteries during adult life. Methods: We performed a retrospective longitudinal analysis of 152 patients older than 15 years who underwent ASO for transposition of the great arteries and who were followed-up for 4.9 ± 3.3 years in 2 referral centers. Sequential changes in body surface-adjusted aortic root dimensions and progression to moderate/severe AR were determined in patients with 2 or more echocardiographic examinations. Risk factors for dilatation were tested by Cox regression to identify predictors of AR progression. Results: At baseline, moderate AR was present in 9 patients (5.9%) and severe AR in 4 (2.6%), of whom 3 had required aortic valve surgery. Initially, the median neoaortic root dimension was 20.05 ± 2.4 mm/m2, which increased significantly to 20.73 ± 2.8 mm/m2 (P < .001) at the end of follow-up. The mean change over time was 0.14 mm/m2/y (95%CI, 0.07-0.2). Progressive AR was observed in 20 patients (13.5%) and 6 patients (4%) required aortic valve surgery. Progressive AR was associated with bicuspid valve, AR at baseline, NRD at baseline, and neoaortic root enlargement. Independent predictors were bicuspid valve (HR, 3.3; 95%CI, 1.1-15.2; P = .037), AR at baseline (HR, 5.9; 95%CI, 1.6-59.2; P = .006) and increase in NRD (HR, 4.1 95%CI, 2-13.5; P = .023). Conclusions: In adult life, NRD and AR progress over time after ASO. Predictors of progressive AR are bicuspid valve, AR at baseline, and increase in NRD.

Genetic testing is becoming increasingly important for diagnosis and personalized treatments in aortopathies. Here, we aimed to genetically diagnose a group of acute aortic syndrome (AAS) patients consecutively admitted to an intensive care unit and to explore the clinical usefulness of AAS-associated variants during treatment decision-making and family traceability.We applied targeted next-generation sequencing, covering 42 aortic diseases genes in AAS patients with no signs consistent with syndromic conditions. Detected variants were segregated by Sanger sequencing in available family members. Demographic features, risk factors and clinical symptoms were statistically analyzed by Fisher or Fisher-Freeman-Halton Exact tests, to assess their relationship with genetic results.Analysis of next-generation sequencing data in 73 AAS patients led to the detection of 34 heterozygous candidate variants in 14 different genes in 32 patients. Family screening was performed in 31 relatives belonging to 9 families. We found 13 relatives harboring the family variant, of which 10 showed a genotype compatible with the occurrence of AAS. Statistical tests revealed that the factors associated with a positive genetic diagnosis were the absence of hypertension, lower age, family history of AAS and absence of pain.Our findings broaden the spectrum of the genetic background for AAS. In addition, both index patients and studied relatives benefited from the results obtained, establishing the most appropriate level of surveillance for each group. Finally, this strategy could be reinforced by the use of stastistically significant clinical features as a predictive tool for the hereditary character of AAS.gov (Identifier: NCT04751058).

[Background] Mortality of pulmonary hypertension associated with congenital heart disease (PAH-CHD) in adults remains high., [Objectives] To identify predictors of death and to assess the impact of treatment on outcome., [Methods] Retrospective, multicenter cohort study of 103 adults with PAH-CHD followed-up for 8.6 ± 4.6 years. Patients were grouped according to underlying shunt type into pre-tricuspid, post-tricuspid and complex. Survival rates were analyzed and predictors of death were investigated with Cox regression models., [Results] In the post-tricuspid and complex groups (38 and 37 patients, respectively), the most common clinical PAH-CHD subgroup was Eisenmenger syndrome (76.3% and 59.5%, respectively) whereas, in the pre-tricuspid group (28 patients), 46.5% of patients had small or corrected defects. Overall, 88 patients received vasodilators; 39% required combination-therapy. Overall survival at 10 years was 65%. Mortality was highest in the pre-tricuspid group, FC-III-IV and amongst patients receiving monotherapy (p < 0.050). On multivariate analysis, predictors of poor outcome were pericardial effusion (HR: 4,520 [1,470–13,890]; p = 0,008), oxygen saturation(HR: 0.940 [0,900 - 0,990]; p = 0,018) and genetic syndromes(HR: 3,280 [1,098–9,780]; p = 0,033)., [Conclusions] Patients in advanced stages at initiation of treatment were at high risk of death and strong consideration should be given for more aggressive therapy., This study was supported by Clinical Research Grant 2017 from the Spanish Society of Cardiology. The regional Registry of Adult Congenital Heart Disease in Andalusia (RACCA) is supported by the Spanish Society of Cardiology and was launched through a research grant from Actelion Pharmaceuticals.

BACKGROUND: At the beginning of the COVID-19 pandemic, professionals in charge of particularly vulnerable populations, such as adult congenital heart disease (ACHD) patients, were confronted with difficult decision-making. We aimed to assess changes in risk stratification and outcomes of ACHD patients suffering from COVID-19 between March 2020 and April 2021. METHODS AND RESULTS: Risk stratification among ACHD experts (before and after the first outcome data were available) was assessed by means of questionnaires. In addition, COVID-19 cases and the corresponding patient characteristics were recorded among participating centres. Predictors for the outcome of interest (complicated disease course) were assessed by means of multivariable logistic regression models calculated with cluster-robust standard errors. When assessing the importance of general and ACHD specific risk factors for a complicated disease course, their overall importance and the corresponding risk perception among ACHD experts decreased over time. Overall, 638 patients (n = 168 during the first wave and n = 470 during the subsequent waves) were included (median age 34 years, 52% women). Main independent predictors for a complicated disease course were male sex, increasing age, a BMI >25 kg/m2, having ≥2 comorbidities, suffering from a cyanotic heart disease or having suffered COVID-19 in the first wave vs. subsequent waves. CONCLUSIONS: Apart from cyanotic heart disease, general risk factors for poor outcome in case of COVID-19 reported in the general population are equally important among ACHD patients. Risk perception among ACHD experts decreased during the course of the pandemic. ispartof: Int J Cardiol Congenit Heart Dis vol:11 pages:100428- ispartof: location:Netherlands status: published

[Objectives] To develop, calibrate, test and validate a logistic regression model for accurate risk prediction of sudden cardiac death (SCD) and non-fatal sudden cardiac arrest (SCA) in adults with congenital heart disease (ACHD), based on baseline lesion-specific risk stratification and individual’s characteristics, to guide primary prevention strategies., [Methods] We combined data from a single-centre cohort of 3311 consecutive ACHD patients (50% male) at 25-year follow-up with 71 events (53 SCD and 18 non-fatal SCA) and a multicentre case–control group with 207 cases (110 SCD and 97 non-fatal SCA) and 2287 consecutive controls (50% males). Cumulative incidences of events up to 20 years for specific lesions were determined in the prospective cohort. Risk model and its 5-year risk predictions were derived by logistic regression modelling, using separate development (18 centres: 144 cases and 1501 controls) and validation (two centres: 63 cases and 786 controls) datasets., [Results] According to the combined SCD/SCA cumulative 20 years incidence, a lesion-specific stratification into four clusters—very-low (12%)—was built. Multivariable predictors were lesion-specific cluster, young age, male sex, unexplained syncope, ischaemic heart disease, non-life threatening ventricular arrhythmias, QRS duration and ventricular systolic dysfunction or hypertrophy. The model very accurately discriminated (C-index 0.91; 95% CI 0.88 to 0.94) and calibrated (p=0.3 for observed vs expected proportions) in the validation dataset. Compared with current guidelines approach, sensitivity increases 29% with less than 1% change in specificity., [Conclusions] Predicting the risk of SCD/SCA in ACHD can be significantly improved using a baseline lesion-specific stratification and simple clinical variables.

La coartación aórtica es una malformación congénita relativamente frecuente. Sus manifestaciones abarcan un amplio espectro de presentación, pudiendo mostrar síntomas desde el nacimiento, o bien diagnosticarse en la edad adulta. Para su manejo se dispone de una amplia gama de técnicas de imagen que permiten valorar la anatomía de la estenosis, las repercusiones estructurales en el ventrículo izquierdo, las alteraciones hemodinámicas y las complicaciones asociadas. La ecocardiografía transtorácica es la técnica de primera línea. Para la valoración quirúrgica en la coartación nativa y el seguimiento de la coartación reparada, la tomografía computarizada y la resonancia magnética son las técnicas de elección.

Background: Long-term outcomes in adults with prior arterial switch operation (ASO) have not yet been well defined. The aim of this study is to elucidate incidence and predictors of adverse cardiac outcomes in a prospectively followed cohort of adults after their ASO. Methods: The comprehensive long-term follow up of adults with ASO is a project within the European collaboration for prospective outcome research in congenital heart disease (EPOCH). It is designed as a prospective, international multicenter cohort study. Consecutive patients (age ≥ 16 years) with prior ASO will be included at 11 European tertiary care centers. Participants will be followed according to a standardized protocol following international recommendations, including standardized protocols for imaging and for exercise testing. Results: Main outcome measures are all-cause and cardiac-related mortality, rate of cardiac re-intervention, neo-aortic dissection, myocardial infarction, stroke, infective endocarditis, sustained atrial and ventricular arrhythmias, new-onset or worsening pulmonary hypertension or heart failure. Secondary endpoints are frequency and progression of right ventricular outflow stenosis, neo-aortic root dilatation, neo-aortic valve regurgitation and ventricular dysfunction. The impact of demographic, anatomic (e.g., coronary artery anato-my) and functional variables on the above-mentioned outcomes, as well as quality of life and incidence of pregnancy related complications will also be assessed. Conclusion: The prospective, international, multicenter EPOCH-ASO study will provide a better understanding of adverse outcomes and their predictors in adults after ASO. The results of the EPOCH-ASO study may help to optimize future care of this novel patient cohort in adult cardiology.

BACKGROUND There were gaps between guidelines and practice when surgery was the only treatment for aortic stenosis (AS). OBJECTIVES This study analyzed the decision to intervene in patients with severe AS in the EORP VHD (EURObservational Research Programme Valvular Heart Disease) II survey. METHODS Among 2,152 patients with severe AS, 1,271 patients with high-gradient AS who were symptomatic fulfilled a Class I recommendation for intervention according to the 2012 European Society of Cardiology guidelines; the primary end point was the decision for intervention. RESULTS A decision not to intervene was taken in 262 patients (20.6%). In multivariate analysis, the decision not to intervene was associated with older age (odds ratio [OR]: 1.34 per 10-year increase; 95% CI: 1.11 to 1.61; P = 0.002), New York Heart Association functional classes I and II versus III (OR: 1.63; 95% CI: 1.16 to 2.30; P = 0.005), higher age adjusted Charlson comorbidity index (OR: 1.09 per 1-point increase; 95% CI: 1.01 to 1.17; P = 0.03), and a lower transaortic mean gradient (OR: 0.81 per 10-mm Hg decrease; 95% CI: 0.71 to 0.92; P < 0.001). During the study period, 346 patients (40.2%, median age 84 years, median EuroSCORE II [European System for Cardiac Operative Risk Evaluation II] 3.1%) underwent transcatheter intervention and 515 (59.8%, median age 69 years, median EuroSCORE II 1.5%) underwent surgery. A decision not to intervene versus intervention was associated with lower 6-month survival (87.4%; 95% CI: 82.0 to 91.3 vs 94.6%; 95% CI: 92.8 to 95.9; P < 0.001). CONCLUSIONS A decision not to intervene was taken in 1 in 5 patients with severe symptomatic AS despite a Class I recommendation for intervention and the decision was particularly associated with older age and combined comorbidities. Transcatheter intervention was extensively used in octogenarians. (J Am Coll Cardiol 2021;78:2131-2143) (c) 2021 by the American College of Cardiology Foundation.

Introduction:Cardiopulmonary exercise test (CPET) allows quantification of functional capacity of patients with Fontan. The objective of this study was to determine the role of CPET parameters in predicting a higher maximum oxygen consumption (VO2 max) and to analyse the role of CPET parameters in predicting an unfavourable outcome.Methods:A retrospective, cross-sectional, descriptive study was carried out on 57 patients with Fontan, who had undergone incremental CPET with cycloergometer between 2010 and 2020. Determinants of VO2 max and determinants of clinical deterioration were analysed.Results:In the univariate analysis, the variables significantly related to VO2 max were: age, sex, body mass index (BMI), years of Fontan evolution, intracardiac Fontan, oxygen consumption at anaerobic threshold (VO2AT), CO2 equivalents at anaerobic threshold (VE/VCO2) and chronotropic insufficiency. The multiple linear regression model that best fitted the relationship between VO2 max and independent variables (correlation coefficient 0.73) included sex (correlation index 3.35; p = 0.02), BMI (−0.27; p = 0.02), chronotropic failure (−2.79; p = 0.01) and VO2AT (0.92; p < 0.0001). In the univariate analysis of the prognostic CPET variables related to an unfavourable clinical situation, significance was only obtained with chronotropic insufficiency (p = 0.003). In multivariate analysis, chronotropic insufficiency maintains its association [p= 0.017, OR = 4.65 (1.3–16.5)].Conclusions:In conclusion, together with the anthropometric parameters universally related to VO2 max, chronotropic insufficiency and VO2AT are the main determinants of functional capacity in patients with Fontan. Moreover, chronotropic insufficiency is closely related to unfavourable clinical evolution. Our data would support the intensive treatment of chronotropic insufficiency in order to improve the quality of life and the clinical situation of patients with Fontan.

Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and/or with hereditary aortic disease. This paper is the result of a collaboration between the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. Throughout the document, the importance of correct counseling in the process of genetic testing is emphasized, indications and timing for genetic studies are discussed as well as the technical modalities of genetic testing. Finally, the most important genetic diseases in adult congenital heart disease and aortic pathology are also discussed., SCOPUS: ar.j, info:eu-repo/semantics/published

Prevalence and prognostic significance of pulmonary artery (PA) dilatation in congenital heart disease (CHD) have never been studied systematically.Chest X-rays of 1192 consecutive adults with CHD were reviewed. Major diameter of the PA was determined by imaging techniques in those with PA dilatation. A value29 mm was considered abnormal. Data on anatomy, hemodynamics, residual lesions and outcomes were retrospectively collected.Overall prevalence of PA dilatation was 18%. A minority of patients (5.5%) reached 40 mm (aneurysm; PAA) and 1.8% exceeded 50 mm. The most common PAA underlying malformations were pulmonary stenosis (21%), and shunts (55%). Significantly larger diameters were observed in hypertensive shunts (40 mm; IQR 36.7-45 mm vs. 34 mm; IQR 32-36 mm) (p 0.0001). However, the largest diameters were found in cono-truncal anomalies. There was no significant correlation between PA dimensions and systolic pulmonary pressure (r = -0.196), trans-pulmonary gradient (r = -0.203), pulmonary regurgitation (PR) (r = 0.071) or magnitude of shunt (r = 0.137) (p 0.05 for all). Over follow-up, 1 sudden death (SD) occurred in one Eisenmenger patient. Complications included coronary (3), recurrent laryngeal nerve (1) and airway (1) compressions, progressive PR (1), and PA thrombosis (1). Coronary compression and SD were strongly associated (univariate analysis) with pulmonary hypertension (120 vs. 55 mm Hg; p = 0.002) but not with extreme PA dilatation (range: 40-65 mm).PA dilatation in CHD is common but only a small percentage of patients have PAA. Clinical impact on outcomes is low. Complications occurred almost exclusively in patients with pulmonary hypertension whereas PA diameter alone was not associated with adverse outcomes.

Congenital heart disease remains the most common congenital disorder in newborns and affects 0.4%–1% of the population. The spectrum of defects is wide and ranges from small and hemodynamically insignificant lesions to very complex conditions, such as functionally univentricular hearts with a variety of associated lesions. Full-volume 3D dataset is a large 3D pyramidal volume electrocardiogram-gated acquisition. A 3D full-volume dataset is used for volumetric acquisition, needed for quantification of left ventricle and atrium, right ventricle and atrium, and functional single ventricle volumes and ejection fractions. The fundamental characteristic of this modality is that it displays in real time, permits rotation and optimization of the 3D pyramidal volume image, and avoids artifacts between adjacent subvolumes. Guidelines recommend diagnosing an atrial septal defect by the demonstration of shunting across the interatrial septum, with evaluation of the right heart and associated abnormalities.

Background: Although several factors have been cited for risk stratification in patients with simple transposition of the great arteries (dTGA), no single predictor emerges consistently. We aimed to assess survival and determine factors associated with survival in a large cohort of dTGA adults with atrial switch. Methods and Results: We included 1,169 dTGA adults (median age 28.1 years, 38.7% female) under regular follow-up at 28 institutions between 2002 and 2019. The primary outcome was a composite of death, mechanical circulatory support (MCS) and heart transplant. During a median follow-up of 9.2 [IQR 5.5-14.2] years, 67 (5.7%) patients died, six (0.5%) patients underwent MCS and 21 (1.8%) had a heart transplant. Cumulative incidence of composite endpoint at 15 years was 12.8% [95% CI 9.8 - 15.7], see Figure). Median age at time of primary outcome was 39.5 [IQR 33.9 - 45.1] years. Leading causes of death were worsening of heart failure (34%), non-cardiac (21%) and sudden unexplained death (12%). In multivariable Cox analyses for baseline variables, age, VSD, ventricular arrhythmia and heart failure admission were each associated with increased risk of the outcome, whereas prior pacemaker (26% of patients) was not. New pacemaker implantation was performed in 107 (9.1%), ICD in 109 (9.3%), and cardiac surgery in 35 (3%) patients. Patients who died were more likely to develop arrhythmias, be admitted for heart failure or require surgery during follow-up. Conclusion: In this large contemporary cohort of dTGA adults after atrial switch, late survival was excellent and seemed to be determined by arrhythmia and heart failure-related complications. Few patients underwent advanced heart failure therapies. Figure. Cumulative incidence of the composite primary outcome (MCS, heart transplant or death) over a period of 15 years from first visit at an adult congenital heart disease clinic since 2002. Shading represents upper and lower 95% confidence limits.

Background: Occasionally patients with congenitally corrected transposition of the great arteries (ccTGA) exhibit little clinical evidence of cardiovascular limitation even to their 8th decade. We aimed to assess survival prospects in a large cohort of ccTGA adults. Methods & Results: We included 555 ccTGA adults (median age 33.0 years, 48.3% female) under regular follow-up at 28 institutions between 2002 and 2019. The primary outcome was a composite of death, mechanical circulatory support (MCS) and heart transplant. During a median follow-up of 8.1 [IQR 4.4 - 13.3] years, 56 (10.1%) patients died, 10 (1.8%) patients underwent MCS and 14 (2.5%) had a heart transplant. Median age at time of primary outcome was 51.1 [IQR 37.5 - 63.2] years and cumulative incidence at 15 years from baseline was 21.5% [95% CI 16.1 - 26.5]. Leading causes of death were worsening of heart failure (43%) and sudden death (10%). Patients who died were more likely to use heart failure (HF) medications. In multivariable Cox analyses for baseline variables, age, prior atrial arrhythmia and HF admission were each associated with an increased risk of the primary outcome. Figure shows cumulative incidence according to history of atrial arrhythmia. During follow-up, 91 (16.4%) were admitted for HF, pacemaker implantation was performed in 68 (12.3%) patients, ICD in 82 (14.7%), and major cardiac surgery (mostly for systemic AV-valve) in 89 (15.8%) patients. Conclusion: In this large cohort of ccTGA adults, survival seemed to be primarily determined by heart failure-related complications. Prior atrial arrhythmia also seems to be a harbinger for adverse outcome. Few patients underwent advanced HF therapies. Figure: Cumulative incidence of the composite primary outcome (MCS, heart transplant or death) over a period of 14 years from first visit at an adult congenital heart disease clinic since 2002 stratified according to history of atrial arrhythmia. Shading represents upper and lower 95% confidence limits.