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Background: The well-established connection between oral bacteria and infective endocarditis (IE) has prompted discussions about using antibiotic prophylaxis (AP) before invasive dental procedures. In 2007/2008, guidelines restricted AP from moderate and high-risk to exclusively high-risk patients. Objectives: The authors aimed to assess whether the proportion of oral streptococcal IE increased in moderate-risk patients using University Hospital Zurich data from 2000 to 2022. Methods: Adult IE patients were categorized into risk groups based on European Society of Cardiology and Swiss guidelines. The investigation focused on analyzing the proportion of oral streptococcal IE across different risk groups in two distinct periods (1: 2000-2008; 2: 2009-2022). Logistic regression models, adjusted for various factors, were employed. Results: Of 752 IE cases, 163 occurred in period 1, and 589 in period 2. Oral streptococci caused 22% of cases. Proportions of streptococcal IE in period 1 versus period 2 were 24% versus 16% in high-risk, 24% versus 39% in moderate-risk, 33% versus 7% in low-/unknown-risk, and 18% versus 14% in no-risk patients. Compared to the other risk groups, the moderate-risk group had a 22% higher chance of oral streptococcal IE in period 2. After multivariable adjustment, moderate-risk patients had twice the risk of oral streptococcal IE compared to period 1 (OR: 2.59 [95% CI: 1.16-5.81]). Among moderate-risk conditions, congenital valve anomalies were associated with oral streptococcal IE (unadjusted OR: 2.52 [95% CI: 1.71-3.71]). Conclusions: Oral streptococcal IEs increased in the moderate-risk group of patients after the AP guideline change. Exploring the potential necessity for expanding AP indications to certain patient groups with congenital valve anomalies may be warranted.

Background The determinants and prognostic value of high‐sensitivity cardiac troponin T (hs‐cTnT) among patients with a systemic right ventricle are largely unknown. Methods and Results Ninety‐eight patients from the randomized controlled SERVE (Effect of Phosphodiesterase‐5 Inhibition With Tadalafil on Systemic Right Ventricular Size and Function) trial were included. The correlation between baseline hs‐cTnT concentrations and biventricular volumes and function quantified by cardiac magnetic resonance or cardiac multirow detector computed tomography was assessed by adjusted linear regression models. The prognostic value of hs‐cTnT was assessed by adjusted Cox proportional hazards models, survival analysis, and concordance statistics. The primary outcome was time to the composite of clinically relevant arrhythmia, hospitalization for heart failure, or all‐cause death. Median age was 39 (interquartile range, 32–48) years, and 32% were women. Median hs‐cTnT concentration was 7 (interquartile range, 4–11) ng/L. Coefficients of determination for the relationship between hs‐cTnT concentrations and right ventricular end‐systolic volume index and right ventricular ejection fraction (RVEF) were +0.368 (P=0.046) and −0.381 (P=0.018), respectively. The sex‐ and age‐adjusted hazard ratio for the primary outcome of hs‐cTnT at 2 and 4 times the reference level (5 ng/L) were 2.89 (95% CI, 1.14–7.29) and 4.42 (95% CI, 1.21–16.15), respectively. The prognostic performance quantified by the concordance statistics for age‐ and sex‐adjusted models based on hs‐cTnT, right ventricular ejection fraction, and peak oxygen uptake predicted were comparable: 0.71% (95% CI, 0.61–0.82), 0.72% (95% CI, 0.59–0.84), and 0.71% (95% CI, 0.59–0.83), respectively. Conclusions Hs‐cTnT concentration was significantly correlated with right ventricular ejection fraction and right ventricular end‐systolic volume index in patients with a systemic right ventricle. The prognostic accuracy of hs‐cTnT was comparable to that of right ventricular ejection fraction and peak oxygen uptake predicted. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT03049540.

Introduction Congenital heart defects may require surgical intervention such as the Fontan procedure that connects the systemic venous return to the pulmonary arteries. Although this procedure has increased survival, it results in reduced exercise capacity; which is reduced not only due to cardiovascular factors, but respiratory limitations as well. However, there is a lack of evidence outlining ventilatory limitations during constant-load exercise, which better represents exercise in cardiac rehabilitation programs and non-laboratory based exercise. Therefore, the aim of the present study was to compare responses to constant-load exercise in adult Fontan patients with those of healthy well-matched controls. Methods 14 adult Fontan patients (5F, 27 ± 6yrs) were recruited with 14 healthy matched controls. Participants performed forced vital capacity (FVC), as well as maximal inspiratory and and expiratory pressure assessments (MIP and MEP, respectively). Patients performed an incremental cycling test (ICT) to exhaustion to determine peak work rate. Following a period of recovery, patients performed a constant-load cycling test (CLCT) at 70% of peak ICT work rate until exhaustion. Healthy subjects reproduced the exercise of their matched patient. Cardiorespiratory variables and heart rate (HR) were measured using a metabolic cart and a 12-lead electrocardiogram, respectively. Participants were asked to rate their perception of breathlessness and respiratory exertion via a visual analogue scale every 2 min and at peak exercise. Patients without cardiac pacemakers underwent involuntary assessments of respiratory muscle contractility via phrenic (n = 8) nerve magnetic stimulation before and following exercise to quantify respiratory muscle fatigue. Results Patients showed significantly reduced FVC, MIP and MEP compared to controls (all p < 0.025). Patients’ time-to-exhaustion during the CLCT was 7.1 ± 3.3 min. During CLCT vs. the ICT, patients reached maximal HR, respiratory rate (fR), breathlessness, respiratory exertion, and leg exertion. End-exercise V̇O2 during the CLCT did not reach ICT values, with a mean difference of 1.5 ml/kg/min (p = 0.017). Controls did not reach peak ICT responses during the CLCT. During the CLCT, patients displayed significantly elevated minute ventilation (V̇E; mean difference = 21.5 L/min), fR (mean difference = 13.8 breaths-per-minute), breathlessness (mean difference = 3.4 points), and respiratory exertion (mean difference = 2.3 points), along with significantly decreased ventilatory reserve (V̇E/maximal voluntary ventilation; mean difference = 27.5%; all p < 0.002). Following the CLCT, Fontan patients showed a larger decrease in involuntary respiratory muscle contractility (15 ± 12% vs. 2 ± 11%). Finally, a decreased ventilatory reserve was significantly correlated with decreased MIP (r = 0.723, p = 0.003) and MEP (r = 0.623, p = 0.042). Discussion/Conclusion Fontan patients had a lower-than-expected time-to-exhausiton, in part due to their abnormal ventilatory response. First, the increased pulmonary restriction in the Fontan patients likely led to increased V̇E driven by a high fR during exercise. Second, Fontan patients showed decreased ventilatory reserve - which was significantly associated with respiratory muscle weakness. Third, patients showed significantly increased respiratory muscle fatigue following exercise. Collectively, these factors likely contributed to the increased breathlessness and respiratory exertion in patients, leading to increased exercise limitation. Given this, and the fact that patients reached near maximal physiological responses during the CLCT, it’s possible that patients may benefit more from aerobic training at less than 70% of peak word rate, or from interval-training with significant recovery time.

Objective Residual sequelae after surgical repair of tetralogy of Fallot (rTOF) affect clinical outcome. We investigated the prognostic impact of right ventricular (RV) dyssynchrony in adults with rTOF years after the surgical repair.Methods Patients from the Swiss Adult Congenital HEart disease Registry were included. NT-proBNP levels, echocardiography, exercise testing and MRI data were collected. An offline strain analysis to quantify RV-ventricular and interventricular dyssynchrony was performed. The standard deviation of the time-to-peak shortening (TTP) of six RV segments defined the RV Dyssynchrony Index (RVDI). Maximal difference of TTP between RV and left ventricular segments defined the interventricular shortening delay (IVSD). Predictors of a composite adverse event (arrhythmias, hospitalisation for heart failure and death) were identified by multivariate Cox regression analysis. Their median values were used to create a risk score.Results Out of 285 included patients (mean age 34±14 years), 33 patients (12%) experienced an adverse event during a mean follow-up of 48±21 months. No correlation was found between RVDI, IVSD and clinical events. NT-proBNP, right atrial area and peak heart rate were independent predictors of outcomes. After 4 years-follow-up, no adverse events occurred in patients at low risk (score=0 points), while an adverse event occurred in 62% of patients at high risk (score=3 points, p

IntroductionAround 25% of patients with left-sided infective endocarditis and operative indication do not undergo surgery. Baseline characteristics and outcomes are underreported. This study describes characteristics and outcomes of surgical candidates with surgical intervention or medical treatment only.MethodsRetrospective analysis of ongoing collected data from a single-center from an observational cohort of patients with infective endocarditis (ENVALVE). Kaplan-Meier estimates for survival was calculated. Factors associated with survival were assessed using a bivariable Cox model. To adjust for confounding by indication, uni- and multivariable logistic regression for the propensity to receive surgery were adjusted.ResultsFrom January 2018 and December 2021, 154 patients were analyzed: 116 underwent surgery and 38 received medical treatment only. Surgical candidates without surgery were older (70 vs. 62 years, p = 0.001). They had higher preoperative risk profile (EuroSCORE II 14% (7.2–28.6) vs. 5.8% (2.5–20.3), p = 0.002) and more comorbidities. One patient was lost-to-follow-up. Survival analysis revealed a significant higher one-year survival rate among patients following surgery (83.7% vs. 15.3% in the non-surgical group; log-rank test

Background: The long-term outcome of adults with repaired total anomalous pulmonary venous connection (TAPVC) is poorly documented. Therefore, the present study aims to provide current clinical data on adult survivors with repaired TAPVC focusing on arrhythmia. Methods: Clinical and imaging data (prevalence and type of arrhythmias, symptoms, surgical and medical treatment, echocardiographic and cardiac magnetic resonance haemodynamic parameters) were retrospectively collected from 8 European centres and compared between patients with and without arrhythmias. Results: Fifty-seven patients were included (age 20 [16-67] years [female 28, 49%]). At the last follow-up, that is, 21 (8-51) years after surgery, 79% and 93% of patients were free of symptoms and cardiac medication, respectively. The prevalence of late arrhythmias was 21%; 9 (16%) patients showed intra-atrial re-entrant tachycardia (IART) and 2 (4%) ventricular arrhythmias. Patients with IART were older (P = 0.018) and 4 (7%) required antiarrhythmic medication. Three patients (5%) underwent an electrophysiological study, and another 3 (5%) underwent pacemaker implantation within 36 months after surgical correction, which were removed in 2 patients after 7 years. Early postoperative arrhythmias (P = 0.005), right ventricular dilatation (P = 0.003), and valvulopathy (P = 0.009) were more often present in patients with late IART. Conclusions: Adult survivors after isolated-TAPVC repair presented a high prevalence of arrhythmias. Age, right ventricular dilatation, early arrhythmias, and valvular lesions are risk factors for IART. Long-term follow-up is important as some of these currently asymptomatic patients will probably develop arrhythmias in the future. Résumé: Contexte: Les résultats de santé à long terme chez les adultes ayant subi la correction d’un retour veineux pulmonaire anormal total (RVPAT) sont mal connus. Notre étude vise donc à recueillir des données cli-niques au sujet des patients ayant subi cette intervention et ayant survécu jusqu’à l’âge adulte, en particulier pour ce qui est des arythmies. Méthodologie: Les données d’observation clinique et d’imagerie (la prévalence et le type d’arythmies, les symptômes, les traitements chirurgicaux et médicaux, et les paramètres hémodynamiques obtenus par échographie et par résonance magnétique cardiaque) ont été recueillies de façon rétrospective dans huit centres européens et comparées selon que les patients présentaient ou non une arythmie. Résultats: Cinquante-sept patients ont été retenus (âge médian : 20 [16-67] ans; 28 [49 %] femmes). Au dernier suivi, soit 21 (8-51) ans après l’intervention chirurgicale, 79 % des patients ne présentaient pas de symptômes et 93 % des patients ne prenaient pas de médicaments pour des troubles cardiaques. La prévalence d’arythmies tardives s’élevait à 21 %; neuf patients (16 %) présentaient une tachycardie par réentrée intra-atriale (TRIA) et deux patients (4 %) présentaient des arythmies ventriculaires. Les patients qui présentaient une TRIA étaient plus âgés (P = 0,018) et quatre d’entre eux (7 %) devaient prendre des médicaments antiarythmiques. Trois patients (5 %) avaient subi des études électrophysiologiques et trois autres patients (5 %) avaient subi l'implantation d’un stimulateur cardiaque au cours des 36 mois suivant la correction chirurgicale; le stimulateur cardiaque a été retiré sept ans plus tard dans deux de ces cas. Les arythmies postopératoires précoces (P = 0,005), la dilation du ventricule droit (P = 0,003) et la valvulopathie (P = 0,009) étaient plus fréquentes chez les patients qui présentaient une TRIA tardive. Conclusions: La prévalence d’arythmies chez les patients survivant jusqu’à l’âge adulte après la correction isolée d’un RVPAT était élevée. L’âge, la dilation du ventricule droit, les arythmies précoces et les lésions valvulaires sont des facteurs de risque de TRIA. Il est important d’effectuer un suivi à long terme des patients ayant subi une RVPAT puisque certains d’entre eux, asymptomatiques pour le moment, présenteront sans doute des arythmies dans les années à venir.

ObjectivesAortic valve-sparing root replacement (AVSRR) is a technically demanding procedure. In experienced centers it offers excellent short- and long-term results, making the procedure an attractive alternative for aortic root replacement especially in young patients. The aim of this study was to analyze long-term results of AVSRR using the David operation in our institution over the last 25 years.MethodsThis is a single-center retrospective analysis of outcomes of David operations performed in a teaching institution not running a large AVSRR-program. Pre-, intra- and postoperative data were collected from the institutional electronic medical record system. Follow-up data were collected through direct contact of the patients and their cardiologists/primary care physicians.ResultsBetween 02/1996 and 11/2019, 131 patients underwent David operation in our institution by a total of 17 different surgeons. Median age was 48 (33–59), 18% were female. Elective surgery was performed in 89% of the cases, 11% were operated as emergency in the setting of an acute aortic dissection. Connective tissue disease was present in 24% and 26% had a bicuspid aortic valve. At hospital admission 61% had aortic regurgitation grade ≥3, 12% were in functional NYHA-class ≥III. 30-day mortality was 2%, 97% of the patients were discharged with aortic regurgitation ≤2. In 10-year follow-up, 15 (12%) patients had to be re-operated because of root-related complications. Seven patients (47%) received a transcatheter aortic valve implantation, 8 (53%) required surgical replacement of the aortic valve or a Bentall-De Bono operation. Estimated reoperation-free survival at 5 and 10 years was 93.5% ± 2.4% and 87.0% ± 3.5%, respectively. Subgroup analysis showed no differences in reoperation-free survival for patients presenting with a bicuspid valve or preoperative aortic regurgitation ≥3. However a preoperative left ventricular end diastolic diameter of ≥5.5 cm was associated with worse outcome.ConclusionDavid operations can be performed with excellent perioperative and 10-year follow-up outcomes in centers not running large AVSRR-programs.

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.

AIMS OF THE STUDY: Numerous studies from different countries have contributed to an improved understanding of blood culture-negative infective endocarditis. However, little is known about its epidemiology and microbiology in Switzerland. We aimed to assess the epidemiology and microbiology of blood culture-negative endocarditis at the University Hospital Zurich, Switzerland. METHODS: We screened all patients hospitalised between 1997 and 2020 with possible or definite endocarditis at our institution. Thereof, we identified all cases with blood culture-negative endocarditis and retrospectively retrieved patient characteristics, microbiological, histopathological, radiographic and surgical data from medical records. RESULTS: Among 861 patients screened, 66 (7.7%) cases of blood culture-negative endocarditis were identified. Thereof, 31 cases could be microbiologically documented or not documented (n = 30), and in five cases a non-infectious aetiology was confirmed. Endocarditis predominantly affected men (77%) and the left heart (79%); predisposing factors were prosthetic valves (42%), congenital heart disease (35%) and prior endocarditis (14%). The most common reasons for negative blood cultures were antibiotic treatment prior to blood culture sampling (35%), fastidious and slow growing microorganisms (30%) and definite non-infective endocarditis (8%). Coxiella burneti i and Bartonella spp. were the most common fastidious bacteria identified. In addition to serology, identification of causative microorganisms was possible by microbiological and/or histopathological analysis of tissue samples, of which polymerase chain reaction testing (PCR) of the 16S ribosomal RNA proved to be most successful. CONCLUSIONS: The present study provides a detailed analysis of blood culture-negative endocarditis over a time span of more than 20 years in Zurich, Switzerland. Antibiotic treatment prior to blood collection, and fastidious and slow growing organisms were identified as main reasons for sterile blood cultures. Typical culture-negative bacteria were mainly found by PCR and/or culture of tissue samples.

BACKGROUND: Adults with transposition of the great arteries (d-TGA) after the arterial switch operation (ASO) are an evolving cohort in adult cardiology. We aimed to analyze cardiac function and cardiac events after transition to the adult clinic in Switzerland. MATERIALS AND METHODS: Adults with prior ASO enrolled in the Swiss Adult Congenital HEart disease Registry (SACHER) were included. We analyzed initial cardiac anatomy, surgical history, residual lesions and cardiac function at the time of inclusion, as well as cardiac events during follow-up. Patients were classified as complex (with ventricular septal defect) or simple (with intact interventricular septum) d-TGA. RESULTS: The cohort included 149 patients (99 simple d-TGA, 50 complex d-TGA; age 21±3 years; 71% male, follow-up 27 [15–46] months). Prior to inclusion, patients with complex d-TGA had undergone more interventions related to the left ventricular outflow tract (16% vs. 3%, p = 0.01). Functional and cardiovascular status were similar between the groups. Eleven patients (7%) had a total of 19 cardiac events (5 complications and 14 re-interventions) during follow-up. Patients with complex d-TGA had more cardiac-related complications compared to those with simple d-TGA (8% vs. 1%, p = 0.03). The frequency of re-interventions was not statistically different between the two groups (12% vs. 4%, p = 0.07). During follow-up, an increase in QRS duration was observed. Other parameters of cardiac function remained unchanged. CONCLUSION: The majority of adult ASO patients have normal functional class and cardiac function. Complex anatomy and residual lesions play a key role when regarding the occurrence of cardiac-related complications during follow-up. The role of QRS prolongation over time needs to be investigated further.

Background: Left ventricular noncompaction cardiomyopathy (LVNC CMP) is a genetic cardiomyopathy. Genotype-phenotype correlation and clinical outcome of genetic variants in pediatric and adult LVNC CMP patients are still unclear.Methods: The retrospective multicenter study was conducted in unrelated index patients with LVNC CMP, diagnosed between the years 1987 and 2017, and all available family members. All index patients underwent next-generation sequencing for genetic variants in 174 target genes using the Illumina TruSight Cardio Sequencing Panel. Major adverse cardiac events (MACE) included mechanical circulatory support, heart transplantation, survivor of cardiac death, and/or all-cause death as combined endpoint.Results: Study population included 149 LVNC CMP patients with a median age of 27.8 (9.2–44.8) years at diagnosis; 58% of them were symptomatic, 18% suffered from non-sustained and sustained arrhythmias, and 17% had an implantable cardioverter defibrillator (ICD) implanted. 55/137 patients (40%) were ≤ 18 years at diagnosis.A total of 134 variants were identified in 87/113 (77%) index patients. 93 variants were classified as variant of unknown significance (VUS), 24 as likely pathogenic and 15 as pathogenic. The genetic yield of (likely) pathogenic variants was 35/113 (31%) index patients. Variants occurred most frequently in MYH7 (n=19), TTN (n = 10) and MYBPC3 (n = 8). Altogether, sarcomere gene variants constituted 42.5% (n = 57) of all variants. The presence or absence of (likely) pathogenic variants or variants in specific genes did not allow risk stratification for MACE.Reduced left ventricular (LV) systolic function and increased left ventricular end-diastolic diameter (LVEDD) were risk factors for event-free survival in the Kaplan-Meier analysis. Through multivariate analysis we identified reduced LV systolic function as the main risk factor for MACE. Patients with reduced LV systolic function were at a 4.6-fold higher risk for MACE.Conclusions: Genetic variants did not predict the risk of developing a MACE, neither in the pediatric nor in the adult cohort. Multivariate analysis emphasized reduced LV systolic function as the main independent factor that is elevating the risk for MACE. Genetic screening is useful for cascade screening to identify family members at risk for developing LVNC CMP.

Objective Adults with congenital heart disease (ACHD) may be at a higher risk of a fatal outcome in case of COVID-19. Current risk stratification among these patients relies on personal experience and extrapolation from patients with acquired heart disease. We aimed to provide an expert view on risk stratification while awaiting results from observational studies.Methods This study was an initiative of the EPOCH (European Collaboration for Prospective Outcome Research in Congenital Heart disease). Among nine European countries (Austria, Belgium, Denmark, France, Germany, Italy, the Netherlands, Spain and Switzerland), 24 experts from 23 tertiary ACHD centres participated in the survey. ACHD experts were asked to identify ACHD-specific COVID-19 risk factors from a list of potential outcome predictors and to estimate the risk of adverse COVID-19 outcomes in seven commonly seen patient scenarios.Results 82% of participants did not consider all ACHD patients at risk of COVID-19 related complications. There was a consensus on pulmonary arterial hypertension, Fontan physiology and cyanotic heart disease as risk factors for adverse outcomes. Among different ACHD scenarios, a patient with Eisenmenger syndrome was considered to be at the highest risk. There was a marked variability in risk estimation among the other potential outcome predictors and ACHD scenarios.Conclusions Pulmonary arterial hypertension, Fontan palliation and cyanotic heart disease were widely considered as risk factors for poor outcome in COVID-19. However, there was a marked disparity in risk estimation for other clinical scenarios. We are in urgent need of outcome studies in ACHD suffering from COVID-19.

The Swiss societies of Infectious Diseases, Pediatric Cardiology and Cardiology and the Pediatric Infectious Disease Group of Switzerland present the current update on infective endocarditis prophylaxis in a joint initiative. The major focus of the revised recommendations is a comprehensive prevention campaign for all patients at risk for infective endocarditis. Antibiotic prophylaxis is recommended only for individuals at high risk. Within this high-risk group there is a ranking order, and the conditions are presented accordingly. Antibiotic prophylaxis is no longer recommended for patients with unrepaired ventricular septal defects and patent ductus arteriosus. Recommendations for antibiotic prophylaxis for the prevention of infective endocarditis are categorized in dental and non-dental interventions.

Adult survivors with congenital heart disease represent rapidly evolving cohorts of complex patients that pose unique challenges to our adult cardiology clinics. These patients are at high risk of cardiovascular complications and premature death as young adults. Regular assessment at specialist centers by multidisciplinary expert teams is key to optimal management. Serial exercise testing has proven to be a powerful tool for optimal management of these patients.In this overview, the major tasks of exercise testing are reviewed. This includes prognostication and risk stratification as well, as the evaluation of specific causes of impaired exercise capacity based on analysis of the different components of cardio-pulmonary exercise testing. While peak oxygen consumption has proven to be a robust marker of outcome in adult cardiology, in patients with congenital heart disease, reference values may need to be adapted to specific congenital heart disease entities and the prognostic validity for specific patient cohorts requires further elucidation. Careful analysis of results from exercise testing often reveal important insights into the individual patient's cardiac physiology and may allow targeted interventions that improve exercise capacity and potentially outcome. This requires integration of clinical findings and findings from cardiac imaging. Occasionally, exercise testing during cardiac catheterization may reveal insights into exercise hemodynamics and may be important for decision-making, particularly for decision-making about occlusion of intra-cardiac shunts.From a research perspective, the analysis of exercise capacity and its components will enable us to make more evidence-based decisions for cardiac interventions and will allow a better understanding of prognosis.

Congenital heart disease (CHD) patients are at risk for neurodevelopmental impairments, including altered motor function. However, little is known about the neuroanatomical correlates of persistent motor deficits in CHD. Thus, we examined the link between corticospinal tract (CST) microstructure and motor function in adolescent and adult CHD patients compared to healthy controls.This study investigated 89 CHD patients (N(adolescents) = 47, N(adults) = 42, mean age = 19.9 years) and 97 age-matched healthy controls (N(adolescents) = 44, N(adults) = 53, mean age = 20.6 years). Diffusion tensor imaging was conducted and fractional anisotropy (FA) of the left and right CST was extracted for each participant. Fine (pegboard) and pure motor (repeated finger, hand and foot movements) performance was evaluated with a standardized test battery. FA and motor performance were correlated and the effect of CHD complexity was tested using multivariate linear regression.Clinically relevant motor impairments (>2SD below normative mean) were evident in 24% of patients and 9% of controls. On average, motor performance was lower in CHD patients compared to controls, particularly in those with more complex CHD (fine motor: p = 0.023; pure motor: p

INTRODUCTION Marfan syndrome (MFS) and related connective tissue disorders (CTDs) are increasingly recognised. Genetic testing has greatly improved the diagnostic outcome/power over the last two decades. In this study we describe a multicentre cohort of adults with MFS and related CTDs, with a particular focus on results from genetic testing. METHODS All patients with MFS and related CTDs were identified from the databases of five centres in the canton of Zurich. Echocardiographic and clinical findings including systemic Marfan score, use of medication and genetic results were retrospectively analysed. MFS was diagnosed using the revised Ghent criteria (including FBN1 genetic testing if available); other CTDs (Loeys-Dietz syndrome) were diagnosed by genetic testing only. RESULTS A cohort of 103 patients were identified (62 index patients, 41 relatives of family members): 96 patients with MFS and 7 patients with other CTD, 54 males (52%), median age 23 years (range 1–75). The median systemic Marfan score was 5 (range 0–18). Only 40 patients (40/103, 39%) fulfilled criteria for systemic involvement (≥7 points). A history of aortic dissection was present in 14 out of 103 patients (14%). Echocardiographic data were available for all: aortic root enlargement (Z-score ≥2 in adults, Z-score ≥3 in children) was found in 49 patients (48%) and mitral valve prolapse in 64 (62%). Genetic testing had been performed in 80 patients (78%); FBN1 mutations were present in 69 patients (86%); other pathogenic mutations could be identified in seven patients (9%); no disease-causing mutation was found in four patients, three of them fulfilling the Ghent criteria of MFS. Of the mutation-positive patients, 33 had a systemic score of ≥7 and 43 had a systemic score of ≥5. Revised Ghent criteria were fulfilled in 70 patients: in 69 patients with FBN1 mutations and 1 patient with another CTD. Recommended treatment (beta-blocker, angiotensin receptor blocker) was taken by 63% of patients. CONCLUSIONS In this cohort a high percentage of patients fulfilling the revised Ghent criteria for MFS underwent genetic testing, often leading to or confirming the diagnosis of MFS. Other CTDs could be discriminated best by genetic testing. With respect to the diagnosis of MFS and related CTDs, the usefulness of the systemic score is limited, showing the importance of genetic testing, which enabled definitive diagnosis in 95% of tested patients. Patient education on medical treatment still has to be improved. (Trial registration no: KEK-ZH-Nr. 2013-0241)

Trisomy 21 (T21) is associated in 40–45% of cases with heart defects, most commonly shunt lesions. These defects, if not repaired, can lead to irreversible shunt-induced pulmonary hypertension (i.e. Eisenmenger syndrome [ES]). In ES patients, intracardiac repair is no longer possible, but selective pulmonary vasodilators may increase exercise capacity and improve prognosis. This study aimed to estimate the prevalence of cardiac defects and ES in adult T21 patients and to assess the impact of T21 on treatment modalities and outcome in ES patients. A questionnaire was sent to 6906 Swiss physicians inviting them to indicate the number of adults with T21 under their care (survey report). We also analyzed all adults with ES (with and without T21) included in the Swiss Adult Congenital HEart disease Registry (SACHER) and studied the impact of T21 on the use of selective pulmonary vasodilators and survival. In the survey, 348 physicians cared for 695 adult T21 patients. Overall, 24% of T21 survey patients were known to have a cardiac defect, one in four with a defect had developed ES and 13% of those with ES were on specific pulmonary vasodilators. In SACHER, ES was present in 2% of adults with congenital heart disease and selective pulmonary vasodilators were used in 68% of ES patients with T21. In SACHER, survival during follow-up was worse with higher nt-proBNP levels (hazard ratio [HR] = 1.15 per 1000 units, 95% confidence interval [CI] = 1.02–1.29) and lower left ventricular ejection fraction (HR = 1.07 per percent decrease, 95% CI = 1.01–1.13). Age at inclusion and T21 did not affect survival. The prevalence of cardiac defects in adults with T21 in Switzerland is half the prevalence in children. T21 is over-represented among adults with ES. Raised awareness of the therapeutic options for T21 patients with ES is warranted.

In most patients with mitral valve prolapse (MVP) without severe mitral regurgitation (MR), left ventricular (LV) function is preserved. There are, however, patients with MVP who have unexplained LV dilatation and/or decreased LV function. An association between MVP and sudden cardiac death has also been reported. LV size and function may be affected by the type of MVP, severity of regurgitation, and cause of MVP (myxomatous degeneration versus fibroelastic deficiency). There is increasing evidence suggesting an intrinsic cardiomyopathy associated with MVP. The cardiomyopathy associated with MVP can also affect the right ventricle (RV). Although the impact on ventricular dimensions and function are usually subtle, these abnormalities can affect clinical and echocardiographic estimation of the severity of MR and may thus have an impact on therapeutic decisions. Particularly in patients with the most extreme forms of MVP (Barlow disease), and in patients with Marfan syndrome or other connective tissue disorders, a cardiomyopathy affecting the LV and RV may thus occur occasionally. A better understanding of LV impairment associated with MVP is important for risk assessment and clinical decision-making.

BACKGROUND In 2013, a prospective registry for adults with congenital heart disease (CHD) was established in Switzerland, providing detailed data on disease characteristics and outcomes: Swiss Adult Congenital HEart disease Registry (SACHER). Its aim is to improve the knowledge base of outcomes in adults with CHD. The registry design and baseline patient characteristics are reported. METHODS All patients with structural congenital heart defects or hereditary aortopathies, followed-up at dedicated adult CHD clinics, are asked to participate in SACHER. Data of participants are pseudonymised and collected in an electronic, web-based, database (secuTrial®). Collected data include detailed diagnosis, type of repair procedures, previous complications and adverse outcomes during follow-up. RESULTS From May 2014 to December 2016, 2836 patients (54% male, mean age 34 ± 14 years), with a wide variety of congenital heart lesions, have been enrolled into SACHER. Most prevalent were valve lesions (25%), followed by shunt lesions (22%), cyanotic and other complex congenital heart disease (16%), diseases affecting the right heart, i.e., tetralogy of Fallot or Ebstein anomaly (15%), and diseases of the left ventricular outflow tract (13%); 337 patients (12%) had concomitant congenital syndromes. The majority had undergone previous repair procedures (71%), 47% of those had one or more reinterventions. CONCLUSION SACHER collects multicentre data on adults with CHD. Its structure enables prospective data analysis to assess detailed, lesion-specific outcomes with the aim to finally improve long-term outcomes.

BACKGROUND Population based studies show a steady increase in adult patients with congenital heart defects. The aim of this study was to assess the evolution of such a patient cohort and its burden on clinical care at a dedicated tertiary care centre. METHODS All patients with congenital heart disease followed up by a dedicated multidisciplinary team at our institution were identified (n = 1725). Disease characteristics, the increase in patient numbers and interventions and the increase in selected complications were analysed and compared between the first (1996–2005) and second (2006–2015) decades of the study period. RESULTS Between the two decades of the study period, the number of patients in follow-up increased by 109%, the number of patients who died or underwent transplantation more than doubled and the number of outpatient visits increased by 195%. One fourth of all patients underwent at least one surgical procedure and 14% had at least one percutaneous intervention. The increase in surgical procedures between the two decades was 27% and the increase in percutaneous interventions 159%. Between the two decades the number of patients requiring direct current cardioversion increased from 32 to 95 (+197%), the number of patients requiring admission for infective endocarditis increased from 7 to 29 (+314%) and the number of women followed up during pregnancy increased from 18 to 115 (+539%). CONCLUSION As a result of the increasing number and complexity of adult survivors with congenital heart disease more resources will be needed to cope with the demands of this novel cohort of complex patients in adult cardiology.

Due to impressive improvements in surgical repair options, even patients with complex congenital heart disease (CHD) may survive into adulthood and have a high risk of end-stage heart failure. Thus, the number of patients with CHD needing heart transplantation (HTx) has been increasing in the last decades. This paper summarizes the changing etiology of causes of death in heart failure in CHD. The main reasons, contraindications, and risks of heart transplantation in CHD are discussed and underlined with three case vignettes. Compared to HTx in acquired heart disease, HTx in CHD has an increased risk of perioperative death and rejection. However, outcome of HTx for complex CHD has improved over the past 20 years. Additionally, mechanical support options might decrease the waiting list mortality in the future. The number of patients needing heart-lung transplantation (especially for Eisenmenger’s syndrome) has decreased in the last years. Lung transplantation with intracardiac repair of a cardiac defect is another possibility especially for patients with interatrial shunts. Overall, HTx will remain an important treatment option for CHD in the near future.

BACKGROUND: Percutaneous carotid artery stenting (CAS) became a widely used procedure in patients with symptomatic and asymptomatic carotid artery stenosis. However its role compared to carotid endarterectomy (CAD) remains questioned. We analysed the safety of carotid artery stenting program of a prospective CAS register program of a tertiary teaching hospital. METHOD: Between July 2003 and December 2010, 208 patients underwent CAS procedure. Baseline, procedural and follow-up data were prospectively collected. Primary peri-interventional outcome was defined as 30-day major adverse events (MAE), including death, stroke or myocardial infarction, and mid- to long-term follow-up outcome included ipsilateral stroke, myocardial infarction or death. Secondary outcome was restenosis rate ≥ 50% per lesion. RESULTS: Unilateral carotid artery interventions were performed in 186 patients. In 22 patients CAS was performed bilaterally as stages procedures. The 30-day MAE rate was 1.9% consisting of two contralateral strokes and two ipsilateral stroke. Mean clinically follow-up was 22 months. Mid- to long-term MAE was 8.1% with 6.3% (n = 13) deaths, 1.9% (n = 4) myocardial infarctions and 0.9% (n = 2) ipsilateral stroke. The restenosis rate ≥ 50% per lesion was 4.3% at a mean follow-up of 22 months. Target lesion revascularization was performed in one patient, because of restenosis at 9 months follow-up after first CAS. CONCLUSION: Implementation of a carotid artery stenting program at a tertiary, teaching hospital is a safe method for treatment of carotid artery stenosis. The adverse event rate during mid-to-long-term follow-up suggests an appropriate patient selection.