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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

IntroductionStudies on pregnancy risk in women with ischaemic heart disease (IHD) have mainly excluded pregnancies in women with pre-existent IHD. There is a need for better information about the pregnancy risks in these women and their offspring.MethodsWe performed a systematic review searching the PubMed/MEDLINE public database for pregnancy in women with pre-existent IHD analysing the cardiac, obstetric and fetal/neonatal outcome of pregnancy in women with pre-existing IHD. Individual patient data were requested from large series. The primary outcome endpoints was a composite of ischaemic complications including maternal death, acute coronary syndrome and ventricular tachycardia.Results116 women with pre-existent IHD had 124 pregnancies including one twin pregnancy. They had a 21% chance of having an uncomplicated pregnancy (completed pregnancy without cardiovascular, obstetric or fetal/neonatal complications, n=26). Primary (ischaemic) endpoints occurred in 9% (n=11). Women with atherosclerosis had more cardiovascular complications compared with pregnancies in women with other underlying pathology for IHD (50%vs23%, P=0.02) but no significant difference in occurrence of primary endpoints (13% vs 9%, P=0.53). There were two maternal cardiac deaths (2%), one of which occurred in the 18th week of pregnancy and the other postpartum. Obstetric complications occurred in 58% (n=65) of pregnancies and fetal/neonatal complications in 42% (n=47).ConclusionPregnancies in women with pre-existing IHD are high-risk pregnancies. These women have a high risk of ischaemic cardiovascular complications including 2% maternal mortality. The risk of ischaemic complications is especially high among women with atherosclerotic coronary artery disease.

Background: Angiogenic placental growth factor (PlGF) concentrations rise during pregnancy, peaking at the end of midpregnancy. Low PlGF concentrations during pregnancy are associated with pregnancy complications with recognized later-life cardiovascular risk. We hypothesized that low PlGF concentrations, especially in midpregnancy, identify not only a subset of women at risk for pregnancy complications but also women with greater cardiovascular risk factor burden after pregnancy regardless of pregnancy outcome. Methods: In a population-based prospective cohort study of 5475 women, we computed gestational age–adjusted multiples of the medians of early pregnancy and midpregnancy PlGF concentrations. Information on pregnancy complications (preeclampsia, small for gestational age, and spontaneous preterm birth) was obtained from hospital registries. Six years after pregnancy, we measured maternal systolic and diastolic blood pressures, cardiac structure (aortic root diameter, left atrial diameter, left ventricular mass, and fractional shortening), carotid-femoral pulse wave velocity, and central retinal arteriolar and venular calibers. Blood pressure was also measured 9 years after pregnancy. Results: Women were on average 29.8 (SD, 5.2) years of age in pregnancy, were mostly European (55.2%), and 14.8% developed a pregnancy complication. Quartile analysis showed that especially women with midpregnancy PlGF in the lowest quartile (the low-PlGF subset) had a larger aortic root diameter (0.40 mm [95% CI, 0.08–0.73]), left atrial diameter (0.34 mm [95% CI, −0.09 to 0.78]), left ventricular mass (4.6 g [95% CI, 1.1–8.1]), and systolic blood pressure (2.3 mm Hg [95% CI, 0.93–3.6]) 6 years after pregnancy than women with the highest PlGF. Linear regression analysis showed that higher midpregnancy PlGF concentrations were associated with a smaller aortic root diameter (−0.24 mm [95% CI, −0.39 to −0.10]), smaller left atrial diameter (−0.75 mm [95% CI, −0.95 to −0.56]), lower left ventricular mass (−3.9 g [95% CI, −5.5 to −2.3]), and lower systolic blood pressure (−1.1 mm Hg [95% CI, −1.7 to −0.46]). These differences persisted after the exclusion of women with complicated pregnancies. Conclusions: Women with low PlGF in midpregnancy have a greater aortic root diameter, left atrial diameter, and left ventricular mass and higher systolic blood pressure 6 and 9 years after pregnancy compared to women with higher PlGF, including women with uncomplicated pregnancies. The pathophysiological implications of lower PlGF concentrations in midpregnancy might provide insight into the identification of pathways contributing to greater cardiovascular risk factor burden.

Herzerkrankungen bei schwangeren Frauen treten eher selten auf, dennoch sind sie in den westlichen Landern die haufigste Todesursache wahrend der Schwangerschaft. Bluthochdruck ist mit einer Pravalenz von 5–10 % am haufigsten; 1–4 % der Schwangerschaften werden durch andere kardiovaskulare Erkrankungen der Mutter kompliziert. Die aktuelle Leitlinie stellt einen Handlungsleitfaden fur jede Arztin und jeden Arzt dar, die vor der Herausforderung stehen, eine schwangere Frau mit Herzerkrankung zu beraten und zu behandeln. Dargestellt werden u. a. die Risikoeinschatzung und Beratung vor der Schwangerschaft fur alle Frauen im gebarfahigen Alter mit Herzerkrankungen. Dazu gehoren Frauen mit bekannten angeborenen Herzfehlern, erworbenen Erkrankungen des Herz-Kreislauf-Systems und der Aorta, nach uberstandener maligner Erkrankung und vor einer geplanten assistierten Reproduktionstherapie. Intensiv diskutiert wurde unter den Expertinnen und Experten der Nutzen von „Schwangerschafts-Herz-Teams“ fur die Versorgung der Risikopatientinnen und zur Beratung der behandelnden Arztinnen und Arzte. In anderen Landern arbeiten diese Teams bereits erfolgreich, sodass die Leitlinie die Etablierung an grosen Kliniken auch in Deutschland fordert.

Objectives: In the VAL-SERVE (Valsartan in Systemic Right Ventricle) trial, three-year valsartan treatment improved systemic ventricular function only in symptomatic patients with congenitally or with an atrial switch corrected transposition of the great arteries. The aim of the current study was to investigate the longer-term clinical outcomes after valsartan treatment.Methods: From 2006 to 2009, 88 adults were randomly allocated 1:1 to either valsartan or placebo for three consecutive years. Endpoints were defined as overall survival and freedom from clinical events (arrhythmia, heart failure, tricuspid valve surgery, death).Results: Cardiac drug use andmedian follow-up after trial close-out (8.3 years) was similar between the randomization groups. Six patients (valsartan n = 3, placebo n = 3) died in 364 and 365 person-years (P = 0.999). No difference in the composite or separate clinical endpoints was found between the randomization groups, with corresponding long-term event-free survival rates of 50% and 34%. Nevertheless, in symptomatic patients valsartan significantly reduced the risk for events compared to placebo (HR 0.37, 95% CI 0.17-0.92). Analysis for repeated events and on-treatment analysis with any renin-angiotensin-aldosterone-system-inhibitor did not alter these results.Conclusions: Valsartan treatment in systemic RV patients did not result in improved survival at longer-term follow-up, but was associated with decreased risk of events in symptomatic patients. (c) 2018 Elsevier B.V. All rights reserved.

Introduction: Current guidelines recommend patients with thoracic aortic disease (TAD) including inherited aortopathies to avoid heavy exercise. However, evidence supporting the negative advice on exercise is scarce. We aimed to provide an up-to-date systematic review of the available evidence on risks and benefits of exercise and sports participation in TAD patients. Areas covered: A systematic search was performed in Medline, Embase and Web of Science: thoracic aortic aneurysm or thoracic aortic dissection or inheritable aortopathies including Marfan Syndrome (MFS), Loeys-Dietz syndrome, Turner Syndrome, Ehlers-Danlos syndrome, bicuspid aortic valve (BAV) and sports, exercise or athletes. The resulting 1,652 manuscripts were reviewed by two independent observers. Eventually, 26 studies and 12 case-reports were included, reporting on thoracic aortic dimensions in athletes, exercise related acute aortic dissections, and exercise in BAV and MFS patients. Expert opinion: Blood pressure elevation during exercise may be associated with an increased risk of acute aortic dissection; however, no controlled trials have longitudinally evaluated the effect of exercise on survival or the risk of aortic dissection in TAD patients. Mouse-model studies suggest beneficial effects of exercise in the setting of a dilated aorta in MFS. There is a clear need for prospective research in this field.

Background Currently, the eligibility for a subcutaneous implantable defibrillator (S-ICD) system relies on a pre-implant vector screening based on the automated screening tool (AST). We investigated which 12-lead ECG characteristics are associated with eligibility for an S-ICD in a heterogeneous population at risk for sudden cardiac death (SCD). The goal is to determine patient eligibility for S-ICD using the standard 12-lead ECG, thereby avoiding additional AST screening. Methods We evaluated the eligibility for an S-ICD in 254 consecutive patients at risk for SCD. We identified 12-lead ECG parameters which were independently associated with AST passing (≥1 vector) using multivariable logistical regression analysis in our derivation cohort. The final model was tested in a separate validation cohort. Results The overall passing rate was 92% in our derivation cohort. Independent 12-lead ECG characteristics associated with AST passing were QRS ≤ 130 ms, absence of QRS/T discordance in lead II and R/T-ratio ≥3.5 in lead II. Eighty-three of 254 patients (33%) fulfilled these three criteria and had a passing rate of 100%. Of the validation cohort, 37 of 60 patients (62%) fulfilled all three criteria and also had a passing rate of 100%. The interobserver agreement for applying the ECG model was 90% (Cohen's Kappa = 0.80). Conclusion Using the standard 12-lead ECG, we developed a simple screening model with a high specificity for S-ICD eligibility. Our results suggest that patients who fulfill the three ECG criteria do not need additional AST-screening.

Objectives To develop and evaluate a fully automatic method to measure diameters of the ascending and descending aorta on non-ECG-gated, non-contrast computed tomography (CT) scans. Material and methods The method combines multi-atlas registration to obtain seed points, aorta centerline extraction, and an optimal surface segmentation approach to extract the aorta surface around the centerline. From the extracted 3D aorta segmentation, the diameter of the ascending and descending aorta was calculated at cross-sectional slices perpendicular to the extracted centerline, at the level of the pulmonary artery bifurcation, and at 1-cm intervals up to 3 cm above and below this level. Agreement with manual annotations was evaluated by dice similarity coefficient (DSC) for segmentation overlap, mean surface distance (MSD), and intra-class correlation (ICC) of diameters on 100 CT scans from a lung cancer screening trial. Repeatability of the diameter measurements was evaluated on 617 baseline-one year follow-up CT scan pairs. Results The agreement between manual and automatic segmentations was good with 0.95 ± 0.01 DSC and 0.56 ± 0.08 mm MSD. ICC between the diameters derived from manual and from automatic segmentations was 0.97, with the per-level ICC ranging from 0.87 to 0.94. An ICC of 0.98 for all measurements and per-level ICC ranging from 0.91 to 0.96 were obtained for repeatability. Conclusion This fully automatic method can assess diameters in the thoracic aorta reliably even in non-ECG-gated, non-contrast CT scans. This could be a promising tool to assess aorta dilatation in screening and in clinical practice. Key Points • Fully automatic method to assess thoracic aorta diameters. • High agreement between fully automatic method and manual segmentations. • Method is suitable for non-ECG-gated CT and can therefore be used in screening. Electronic supplementary material The online version of this article (10.1007/s00330-018-5931-z) contains supplementary material, which is available to authorized users.

OBJECTIVESOur goals were to compare the outcome of the intra-atrial lateral tunnel (ILT) and the extracardiac conduit (ECC) techniques for staged total cavopulmonary connection (TCPC) and to compare the current modifications of the TCPC technique, i.e. the prosthetic ILT technique with the current ECC technique with a ≥18-mm conduit.METHODSWe included patients who had undergone a staged TCPC between 1988 and 2008. Records were reviewed for patient demographics, operative details and events during follow-up (death, surgical and catheter-based reinterventions and arrhythmias).RESULTSOf the 208 patients included, 103 had the ILT (51 baffle, 52 prosthetic) technique and 105 had the ECC technique. Median follow-up duration was 13.2 years (interquartile range 9.5–16.3). At 15 years after the TCPC, the overall survival rate was comparable (81% ILT vs 89% ECC; P = 0.12). Freedom from late surgical and catheter-based reintervention was higher for patients who had ILT than for those who had ECC (63% vs 44%; P = 0.016). However, freedom from late arrhythmia was lower for patients who had ILT than for those who had ECC (71% vs 85%, P = 0.034). In a subgroup of patients who had the current TCPC technique, when we compared the use of a prosthetic ILT with ≥18-mm ECC, we found no differences in freedom from late arrhythmias (82% vs 86%, P = 0.64) or in freedom from late reinterventions (70% vs 52%, P = 0.14).CONCLUSIONSA comparison between the updated prosthetic ILT and current ≥18-mm ECC techniques revealed no differences in late arrhythmia-free survival or late reintervention-free survival. Overall, outcomes after the staged TCPC were relatively good and reinterventions occurred more frequently in the ECC group, whereas late arrhythmias were more common in the ILT group.

Summary Infective endocarditis (IE) is the cardiac disease with the highest rates of mortality. New biomarkers that are able to identify patients at risk for death are required to improve patient management and outcome. This study aims to investigate if cytokines, chemokines and growth factors measured at IE diagnosis can predict mortality. Patients with definite IE, according to the Duke’s modified criteria, were included. Using high-performance Luminex assay, 27 different cytokines, chemokines and growth factors were analyzed. Machine learning techniques were used for the prediction of death and subsequently creating a decision tree, in which the cytokines, chemokines and growth factors were analyzed together with C-reactive protein (CRP). Sixty-nine patients were included, 41 (59%) male, median age 54 [interquartile range (IQR) = 41–65 years] and median time between onset of the symptoms and diagnosis was 12 days (IQR = 5–30 days). The in-hospital mortality was 26% (n = 18). Proinflammatory cytokines interkeukin (IL)-15 and C-C motif chemokine ligand (CCL4) were found to predict death, adding value to CRP levels. The decision tree predicted correctly the outcome of 91% of the patients at hospital admission. The high-risk group, defined as CRP ≥ 72 mg/dL, IL-15 ≥ 5·6 fg/ml and CCL4 ≥ 6·35 fg/ml had an 88% in-hospital mortality rate, whereas the patients classified as low-risk had a mortality rate of 8% (P = < 0·001). Cytokines IL-15 and CCL4 were predictors of mortality in IE, adding prognostic value beyond that provided by CRP levels. Assessment of cytokines has potential value for clinical risk stratification and monitoring in IE patients.

ContextTurner syndrome (TS) usually manifests in traits as short stature and premature ovarian failure. Many patients also have an increased risk of cardiometabolic disorders and psychological distress, which are features that overlap with those of a prolonged state of hypercortisolism.ObjectiveTo investigate whether TS is associated with increased long-term cortisol concentrations as measured in scalp hair and whether these are linked to cardiometabolic and psychological parameters.DesignProspective observational case-control study.SettingAcademic outpatient TS expertise center.ParticipantsFifty-five patients with TS (53% 45,X karyotype), and 110 age-matched female community control subjects from the general population–based Lifelines cohort study.Main Outcome MeasuresHair cortisol concentrations (HCC), anthropometrics, biochemical parameters, and psychological questionnaires for perceived stress (Perceived Stress Scale–14), fatigue (Checklist Individual Strength–20), and health-related quality of life (RAND-36).ResultsCompared with control subjects, patients with TS had higher HCC [geometric mean, 3.51 pg/mg (95% CI, 2.64 to 4.65) vs 2.39 pg/mg (2.13 to 2.68); P = 0.003] and a worse cardiometabolic profile in terms of fasting glucose, and triglycerides. HCC was only associated with total cholesterol levels (standardized β = 0.294; P = 0.047) and was not associated with the psychological outcomes. A higher HCC was inversely associated with height only in patients with TS (standardized β = −0.307; P = 0.023).ConclusionPatients with TS are chronically exposed to higher cortisol levels, which is associated with short stature and increased total cholesterol levels, and potentially contributes to the known elevated cardiovascular disease risk.

OBJECTIVESSince 1988, our centre employs vertical plication repair with deattachment and reattachment of the tricuspid valve for Ebstein anomaly. This study describes the characteristics and long-term outcomes of our single-centre cohort.METHODSData from all patients operated on between 1988 and 2016 were retrospectively collected. Kaplan–Meier analyses were done for survival data and mixed models were used to analyse longitudinally collected clinical and echocardiography data.RESULTSThirty-six patients (mean age: 25.4 ± 15.9 years, 36% male) were operated on using the Carpentier–Chauvaud 21 (58%) or Cone repair 15 (42%). One patient (3%) died in hospital. Two late deaths were observed, yielding a survival of 97 ± 3% at 25 years. Reoperation was performed in 6 patients after a mean follow-up of 14.1 ± 10.3 years, resulting in a freedom of reoperation of 80 ± 8% at 25 years. During follow-up, predicted probability of being in New York Heart Association III/IV did not exceed 10%. Modelling longitudinal evolution of tricuspid regurgitation showed no major changes over time. Additionally, a rigid ring repair was associated with a higher probability of tricuspid regurgitation, especially after the first years after the operation. A full Cone repair was associated with less progression of tricuspid regurgitation over time.CONCLUSIONSRepair of Ebstein abnomaly is associated with low mortality and morbidity, acceptable reoperation rate and excellent valve function over time, especially in patients with completed Cone repair. Therefore, we conclude that in our centre, repair of Ebstein abnomaly is a durable technique to treat patients.

Aneurysms‐osteoarthritis syndrome (AOS) is characterized by arterial aneurysms and dissection in combination with early‐onset osteoarthritis, which can impact quality of life. We describe the subjective quality of life and investigate anxiety and depression in 28 AOS patients aged 15–73 years. Three questionnaires were used: 36‐Item Short Form Survey (SF‐36), hospital anxiety and depression scale (HADS) and Rotterdam disease specific questionnaire. Results of the SF‐36 and HADS were compared to a reference Dutch cohort and the SF‐36 questionnaire also to patients with Marfan syndrome. Compared to the general population, AOS patients scored significantly lower on the following SF‐36 domains: physical functioning, vitality, social functioning, bodily pain, and general health. Physical functioning was also lower than in Marfan patients. Patients with AOS scored higher on the HADS depression scale, while anxiety did not show a significant difference compared to the general population. No difference in SF‐36 and HADS domain scores were found between patient with and without orthopaedic symptoms and patients with or without previous aortic surgery. Additionally, we found that patients' worries for their future and heredity of their disease are important factors for anxiety, which should be addressed in clinical practice.

Background The manufacturer has developed a new ECG screening tool to determine eligibility for the subcutaneous ICD (S-ICD), the “automatic screening tool” (AST), which may render manual ECG-screening unnecessary. The aim of the study was to determine the eligibility for the S-ICD using two methods (manual ECG-screening versus AST) in different patient categories including patients with cardiomyopathy, congenital heart disease and inherited primary arrhythmia syndrome. Methods We prospectively evaluated the ECG suitability for an S-ICD in consecutive patients at our outpatient clinic between February and June 2017. The primary endpoint of the study was ECG eligibility defined as at least 1 successful vector in both supine and sitting postures. Results A total of 254 patients (167 men; mean age 45 ± 16 years) were screened using both methods. Overall, there was a high ECG eligibility using either method (93% versus 92%, P = 0.45). Overall agreement between both methods was 94%. Patients with hypertrophic cardiomyopathy (HCM) more often had a failed screening test using either test in comparison to the patients without HCM (manual: odds ratio [OR] 3.3, 95% confidence interval [CI] 1.2–9.3, P = 0.02; AST: OR 3.0, 95% CI 1.2–7.6, P = 0.02). Conclusion AST showed a high agreement with manual ECG-screening for S-ICD. Overall there was a high ECG eligibility for S-ICD, although patients with HCM had a lower passing rate irrespective of the screening method.

This position paper focusses on the pathophysiology, diagnosis and management of women diagnosed with a cardiomyopathy, or at risk of heart failure (HF), who are planning to conceive or present with (de novo or previously unknown) HF during or after pregnancy. This includes the heterogeneous group of heart muscle diseases such as hypertrophic, dilated, arrhythmogenic right ventricular and non-classified cardiomyopathies, left ventricular non-compaction, peripartum cardiomyopathy, Takotsubo syndrome, adult congenital heart disease with HF, and patients with right HF. Also, patients with a history of chemo-/radiotherapy for cancer or haematological malignancies need specific pre-, during and post-pregnancy assessment and counselling. We summarize the current knowledge about pathophysiological mechanisms, including gene mutations, clinical presentation, diagnosis, and medical and device management, as well as risk stratification. Women with a known diagnosis of a cardiomyopathy will often require continuation of drug therapy, which has the potential to exert negative effects on the foetus. This position paper assists in balancing benefits and detrimental effects. ispartof: EUROPEAN JOURNAL OF HEART FAILURE vol:23 issue:4 pages:527-540 ispartof: location:England status: published

In patients with repaired Tetralogy of Fallot (ToF), detailed assessment of right ventricular (RV) function is important for management and timing of possible pulmonary valve re-intervention. The aim of this study was to evaluate RV function using two-dimensional multi-plane echocardiography (2D MPE), a novel four-wall imaging method obtained from one apical acoustic window utilising electronic plane rotation. In sixty-two ToF patients (aged - 28 [22, 39] years, 65% male), systolic function of four different RV walls (lateral, anterior, inferior and inferior coronal) were evaluated using MPE. Tricuspid annular plane systolic excursion (TAPSE), tricuspid annular peak systolic velocity (RV-S′) and RV wall longitudinal strain (RV-LS) measurements were compared with those of matched healthy individuals. 2D MPE measurements were highly feasible across the four RV walls (93.5–100% for TAPSE/S′; 66.1–95.1% for RVLS) and could be performed more reliably than 3D RV ejection fraction (RVEF − 56.5%). All functional values were significantly reduced when compared to the control group (p

The growing population of women with heart disease of reproductive age has been associated with an increasing number of high-risk pregnancies. Pregnant women with heart disease are a very heterogeneous population, with different risks for maternal cardiovascular, obstetric, and foetal complications. Adverse cardiovascular events during pregnancy pose significant clinical challenges, with uncertainties regarding diagnostic and therapeutic approaches potentially compromising maternal and foetal health. This review summarizes best practice for the treatment of common cardiovascular complications during pregnancy, based on expert opinion, current guidelines, and available evidence. Topics covered include heart failure (HF), arrhythmias, coronary artery disease, aortic and thromboembolic events, and the management of mechanical heart valves during pregnancy. Cardiovascular pathology is the leading cause of non-obstetric morbidity and mortality during pregnancy in developed countries. For women with pre-existing cardiac conditions, preconception counselling and structured follow-up during pregnancy are important measures for reducing the risk of acute cardiovascular complications during gestation and at the time of delivery. However, many women do not receive pre-pregnancy counselling often due to gaps in what should be lifelong care, and physicians are increasingly encountering pregnant women who present acutely with cardiac complications, including HF, arrhythmias, aortic events, coronary syndromes, and bleeding or thrombotic events. This review provides a summary of recommendations on the management of acute cardiovascular complication during pregnancy, based on available literature and expert opinion. This article covers the diagnosis, risk stratification, and therapy and is organized according to the clinical presentation and the type of complication, providing a reference for the practicing cardiologist, obstetrician, and acute medicine specialist, while highlighting areas of need and potential future research.

In high income countries, cardiac disease is the most important indirect cause of maternal mortality and occurs most commonly in women with no cardiac history, but with significant risk factors. The fall in blood pressure and consequent increase in cardiac output induced by pregnancy increases cardiac work significantly, this and other pregnancy-induced changes may unmask undiagnosed heart disease or induce heart disease de novo. Admission to the intensive cardiac care unit is a rare event (0.1-0.9%) during pregnancy but is associated with a significant mortality (3.5 to 21%). The fetus may be adversely affected by the heart disease, either directly through impaired uterine perfusion or indirectly through the need for early delivery, specific therapies or diagnostic tests. In this chapter, we have described the presentation and optimal management of the most common cardiac emergencies that arise during pregnancy.

Background Tetralogy of Fallot (TOF) is the commonest cyanotic congenital heart defect. When surgically repaired at young age over 90% of patients reach adult age and most women have a desire to become pregnant However, pregnancy is associated with up to 50% increase in cardiac output and also associated with an elevated risk of arrhythmias and thrombosis. The aim of this study was to describe the outcomes in women with TOF for both mother and baby and to assess the influence of pregnancy on right ventricular (RV) dimensions. Methods Within the prospective, international ESC EORP Registry Of Pregnancy And Cardiac disease (ROPAC), we describe the outcomes in 421 women with repaired TOF. Primary outcome was the occurrence of maternal cardiovascular events. Secondary outcomes were obstetric and fetal events and RV dilatation and pulmonary valve deterioration. Results The mean age was 28.8 years and 52.3% were nulliparous. There were no maternal deaths, and heart failure and ventricular tachyarrhythmias complicated respectively 5% and 2% of pregnancies. Almost half of women underwent a Caesarean section (48%). Fetal mortality was 1%, while no neonatal mortality occurred. Pregnancy induced hypertension and HELLP/(pre)eclampsia were found in 3% and 1% respectively. Preterm delivery was observed in 14% and 10% had low birth weight. RV dilatation occurred in 49% and was significantly associated with moderate and severe pulmonary regurgitation (PR). Conclusion Women with repaired TOF tolerate pregnancy relatively well, with no maternal mortality, and low complication rate. Pulmonary regurgitation predicts RV dilatation. Fetal and neonatal outcomes were also favorable and women should be counselled as low to moderate risk. However, nearly half of women underwent Caesarean section, while probably more women should have a vaginal delivery.

BackgroundCardiovascular disease is the leading cause of death during pregnancy with thoracic aortic dissection being one of the main causes. Thoracic aortic disease is commonly related to hereditary disorders and congenital heart malformations such as bicuspid aortic valve (BAV). Pregnancy is considered a high risk period in women with underlying aortopathy.MethodsThe ESC EORP Registry Of Pregnancy And Cardiac disease (ROPAC) is a prospective global registry that enrolled 5739 women with pre-existing cardiac disease. With this analysis, we aim to study the maternal and fetal outcome of pregnancy in women with thoracic aortic disease.ResultsThoracic aortic disease was reported in 189 women (3.3%). Half of them were patients with Marfan syndrome (MFS), 26% had a BAV, 8% Turner syndrome, 2% vascular Ehlers-Danlos syndrome and 11% had no underlying genetic defect or associated congenital heart defect. Aortic dilatation was reported in 58% of patients and 6% had a history of aortic dissection. Four patients, of whom three were patients with MFS, had an acute aortic dissection (three type A and one type B aortic dissection) without maternal or fetal mortality. No complications occurred in women with a history of aortic dissection. There was no significant difference in median fetal birth weight if treated with a beta-blocker or not (2960 g (2358–3390 g) vs 3270 g (2750–3570 g), p value 0.25).ConclusionThis ancillary analysis provides the largest prospective data review on pregnancy risk for patients with thoracic aortic disease. Overall pregnancy outcomes in women with thoracic aortic disease followed according to current guidelines are good.

BackgroundIn response to an increased need for patient information in congenital heart disease, we previously developed an online, evidence-based information portal for patients with congenital aortic and pulmonary valve disease. To assess its effectiveness, a stepped-wedge cluster randomised trial was conducted.MethodsAdult patients and caregivers of paediatric patients with congenital aortic and/or pulmonary valve disease and/or tetralogy of Fallot who visited the outpatient clinic at any of the four participating centres in the Netherlands between 1 March 2016–1 July 2017 were prospectively included. The intervention (information portal) was introduced in the outpatient clinic according to a stepped-wedge randomised design. One month after outpatient clinic visit, each participant completed a questionnaire on disease-specific knowledge, anxiety, depression, mental quality of life, involvement and opinion/attitude concerning patient information and involvement.Results343 participants were included (221 control, 122 intervention). Cardiac diagnosis (p=0.873), educational level (p=0.153) and sex (p=0.603) were comparable between the two groups. All outcomes were comparable between groups in the intention-to-treat analyses. However, only 51.6% of subjects in the intervention group (n=63) reported actually visiting the portal. Among these subjects (as-treated), disease-specific knowledge (p=0.041) and mental health (p=0.039) were significantly better than in control subjects, while other baseline and outcome variables were comparable.ConclusionEven after being invited by their cardiologists, only half of the participants actually visited the information portal. Only in those participants that actually visited the portal, knowledge of disease and mental health were significantly better. This underlines the importance of effective implementation of online evidence-based patient information portals in clinical practice.

Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Stichting Hartekind en Thorax Foundation Background Optimal timing of pulmonary valve replacement (PVR) in Tetralogy of Fallot (TOF) patients remains challenging. Wall stress is considered to be a possible early marker of right ventricular (RV) dysfunction. With patient-specific computational models, wall stress can be determined regionally and with high accuracy, especially in complex shaped ventricles such as in TOF patients. We aimed to 1) develop patient-specific computational models to assess RV diastolic wall stresses and 2) investigate the association of wall stresses and their change over time with functional parameters in TOF patients. Methods Repaired TOF patients with at least moderate pulmonary regurgitation (PR) and prior to PVR were included. MRI-based patient-specific computational ventricular models were created (figure). The ventricular geometry was created by stacking endo- and epicardial contours traced on short axis SSFP cine images. Pressure in the right ventricle was estimated from echocardiography. Mid-diastolic wall stress in the RV free wall was analysed globally and regionally (basal, mid, apical, anterior, lateral and posterior) at two time points. RV ejection fraction (RVEF), NT-proBNP and exercise tests (% maximum predicted workload) were used as outcomes for RV function. Associations between wall stresses and outcomes were investigated using linear mixed models adjusted for follow-up duration. Results Five males and five females were included with an age at baseline of 24 (IQR 16-28) years and RV end-diastolic volume of 140 (IQR 127-144) ml/m2. The period between the two time points was 7.0 (IQR 5.8-7.3) years. Global wall stress of the RV free wall combining both time points was 5.8 kPa (IQR 5.2-7.2). There was no statistical difference between baseline and follow-up global wall stress. The mean wall stresses in the mid region was 1.69 kPa (p Conclusions This study generated a novel MRI-based method to calculate wall stress in geometrically complex ventricles. Wall stress associated negatively with RVEF in patients with TOF and PR. This promising tool for RV wall stress analysis can be used in future larger studies to validate these preliminary findings and to assess the predictive value of wall stress in TOF. Abstract Figure.

Background Patients who have undergone the Fontan procedure are at high risk of circulatory failure. In an exploratory analysis we aimed to determine the prognostic value of blood biomarkers in a young cohort who have undergone the Fontan procedure. Methods and Results In multicenter prospective studies patients who have undergone the Fontan procedure underwent blood sampling, cardiopulmonary exercise testing, and stress cardiac magnetic resonance imaging. Several biomarkers including NT‐proBNP (N‐terminal pro‐B‐type natriuretic peptide), GDF‐15 (growth differentiation factor 15), Gal‐3 (galectin‐3), ST2 (suppression of tumorigenicity 2), DLK‐1 (protein delta homolog 1), FABP‐4 (fatty acid‐binding protein 4), IGFBP‐1 (insulin‐like growth factor‐binding protein 1), IGFBP‐7, MMP‐2 (matrix metalloproteinase 2), and vWF (von Willebrand factor) were assessed in blood at 9.6 (7.1–12.1) years after Fontan completion. After this baseline study measurement, follow‐up information was collected on the incidence of adverse cardiac events, including cardiac death, out of hospital cardiac arrest, heart transplantation (listing), cardiac reintervention (severe events), hospitalization, and cardioversion/ablation for arrhythmias was collected and the relation with blood biomarkers was assessed by Cox proportional hazard analyses. The correlation between biomarkers and other clinical parameters was evaluated. We included 133 patients who have undergone the Fontan procedure, median age 13.2 (25th, 75th percentile 10.4–15.9) years, median age at Fontan 3.2 (2.5–3.9) years. After a median follow‐up of 6.2 (4.9–6.9) years, 36 (27.1%) patients experienced an event of whom 13 (9.8%) had a severe event. NT‐proBNP was associated with (all) events during follow‐up and remained predictive after correction for age, sex, and dominant ventricle (hazard ratio, 1.89; CI, 1.32–2.68). The severe event‐free survival was better in patients with low levels of GDF‐15 ( P =0.005) and vWF ( P =0.008) and high levels of DLK‐1 ( P =0.041). There was a positive correlation (β=0.33, P =0.003) between DLK‐1 and stress cardiac magnetic resonance imaging functional reserve. Conclusions NT‐proBNP, GDF‐15, vWF, DLK‐1, ST‐2 FABP‐4, and IGFBP‐7 levels relate to long‐term outcome in young patients who have undergone the Fontan procedure.

Background Pregnancy in women with repaired aortic coarctation (CoA) has a moderately increased risk (mWHO II-III) of an adverse cardiovascular, obstetric or fetal event, but prospective data to validate this estimated risk is scarce. Purpose We examined maternal and fetal outcomes in pregnant women with unrepaired and repaired CoA to identify predictors of adverse outcomes. Methods Pregnancies in women with CoA were selected from the worldwide prospective Registry of Pregnancy and Cardiac Disease (ROPAC, n=5739). The frequency and predictors of major adverse cardiac events (MACE, defined as maternal cardiac death, heart failure, atrial fibrillation/flutter, ventricular tachyarrhythmia, endocarditis, thromboembolic events, aortic dissection and acute coronary syndrome), and hypertensive complications (defined as pregnancy-induced hypertension, (pre)eclampsia or HELLP syndrome) were analyzed. Results Of 303 pregnancies in women with CoA (median age 30 years, median pregnancy duration 39 weeks), 10% were in women with unrepaired CoA and 27% in women with pre-existing hypertension. There were no maternal deaths. There were 4 neonatal deaths of which 3 occurred after a spontaneous extreme preterm birth. MACE occurred in 4.3% of pregnancies, predominantly involving heart failure (3.3%). MACE rate was similar in unrepaired vs repaired CoA (3.4% vs 4.4%, p=0.814). Predictors of MACE included pre-pregnancy clinical signs of heart failure (OR 31.8, 95% CI 6.8–147.7), LVEF 1 (OR 11.4, 95% CI 3.6–36.3), cardiac medication use (OR 4.9, 95% CI 1.3–18.3) and living in an emerging country (OR 4.88, 95% CI 1.58–15.07). Hypertensive complications occurred in 6.3%, more often in the subgroup with pre-existing hypertension (11% vs 5%, p=0.040). Pre-existing hypertension was the only predictor (OR 2.6, 95% CI 1.01–6.6). Caesarean section was performed in 50% of the total cohort. Conclusions Pregnancies in women with CoA are safe, well tolerated and MACE and hypertensive complication rates are low. These findings support mWHO risk score reevaluation to mWHO II for women with CoA without cardiac impairment. Funding Acknowledgement Type of funding source: Foundation. Main funding source(s): ESC EURObservational Research Programme (EORP)

Background Cardiac disease is one of the major causes of maternal mortality. We studied pregnancy outcomes in women with a systemic right ventricle (sRV) after the atrial switch procedure for transposition of the great arteries (TGA) or congenitally corrected TGA (CCTGA). Methods The ESC-EORP Registry of Pregnancy and Cardiac Disease is an international prospective registry of pregnant women with cardiac disease. Pregnancy outcomes (maternal and fetal) in women with a sRV are described. The primary endpoint was a major cardiovascular event (MACE) defined as maternal death, supraventricular or ventricular arrhythmias requiring treatment, heart failure, aortic dissection, endocarditis, ischemic coronary event and other thromboembolic events. Results Altogether, 163 women with a sRV (TGA n=121, CCTGA n=42, mean age 28.8±4.6 years) were included. Maternal mortality did not occur. At least one MACE occurred in 26 women (heart failure in 16 (9.8%), arrhythmias (atrial 5, ventricular 6) in 11 (6.7%), and others in 4 (2.5%)). Predictors of MACE were pre-pregnancy signs of heart failure [Odds ratio (OR) 6.05, 95% CI: 1.41–25.97, p=0.02] as well as a sRV ejection fraction below 40% [OR 2.81, 95% CI: 1.18–6.69, p=0.02]. One woman experienced fetal loss, while no neonatal mortality was observed. No significant differences were found between women with CCTGA and TGA. In the subset of women who had an echocardiogram before and after pregnancy, no clear deterioration in sRV was observed. Conclusion The majority of women with a sRV tolerated pregnancy well with a favorable maternal and fetal outcome. Heart failure and arrhythmias were the most common MACE. Funding Acknowledgement Type of funding source: None

To examine the current status of care and needs of adult congenital heart disease (ACHD) services in the Central and South Eastern European (CESEE) region.We obtained data regarding the national ACHD status for 19 CESEE countries from their ACHD representative based on an extensive survey for 2017 and/or 2018. Thirteen countries reported at least one tertiary ACHD centre with a median year of centre establishment in 2007 (interquartile range 2002-2013). ACHD centres reported a median of 2114 patients under active follow-up with an annual cardiac catheter and surgical intervention volume of 49 and 40, respectively. The majority (90%) of catheter or surgical interventions were funded by government reimbursement schemes. However, all 19 countries had financial caps on a hospital level, leading to patient waiting lists and restrictions in the number of procedures that can be performed. The median number of ACHD specialists per country was 3. The majority of centres (75%) did not have ACHD specialist nurses. The six countries with no dedicated ACHD centres had lower Gross Domestic Product per capita compared to the remainder (P = 0.005).The majority of countries in CESEE now have established ACHD services with adequate infrastructure and a patient workload comparable to the rest of Europe, but important gaps still exist. ACHD care is challenged or compromised by limited financial resources, insufficient staffing levels, and reimbursement caps on essential procedures compared to Western Europe. Active advocacy and increased resources are required to address the inequalities of care across the continent.

Aims Adequate risk prediction can optimize the clinical management in adult congenital heart disease (ACHD). We aimed to update and subsequently validate a previously developed ACHD risk prediction model. Methods and results A prediction model was developed in a prospective cohort study including 602 moderately or severely complex ACHD patients, enrolled as outpatients at a tertiary centre in the Netherlands (2011–2013). Multivariable Cox regression was used to develop a model for predicting the 1-year risks of death, heart failure (HF), or arrhythmia (primary endpoint). The Boston ACHD Biobank study, a prospectively enrolled cohort (n = 749) of outpatients who visited a referral centre in Boston (2012–2017), was used for external validation. The primary endpoint occurred in 153 (26%) and 191 (28%) patients in the derivation and validation cohorts over median follow-up of 5.6 and 2.3 years, respectively. The final model included 5 out of 14 pre-specified predictors with the following hazard ratios; New York Heart Association class ≥II: 1.92 [95% confidence interval (CI) 1.28–2.90], cardiac medication 2.52 (95% CI 1.72–3.69), ≥1 reintervention after initial repair: 1.56 (95% CI 1.09–2.22), body mass index: 1.04 (95% CI 1.01–1.07), log2 N-terminal pro B-type natriuretic peptide (pmol/L): 1.48 (95% CI 1.32–1.65). At external validation, the model showed good discrimination (C-statistic 0.79, 95% CI 0.74–0.83) and excellent calibration (calibration-in-the-large = −0.002; calibration slope = 0.99). Conclusion These data support the validity and applicability of a parsimonious ACHD risk model based on five readily available clinical variables to accurately predict the 1-year risk of death, HF, or arrhythmia. This risk tool may help guide appropriate care for moderately or severely complex ACHD.

Background Cardiovascular magnetic resonance (CMR) phase contrast (PC) flow measurements suffer from phase offset errors. Background subtraction based on stationary phantom measurements can most reliably be used to overcome this inaccuracy. Stationary tissue correction is an alternative and does not require additional phantom scanning. The aim of this study was 1) to compare measurements with and without stationary tissue correction to phantom corrected measurements on different GE Healthcare CMR scanners using different software packages and 2) to evaluate the clinical implications of these methods. Methods CMR PC imaging of both the aortic and pulmonary artery flow was performed in patients on three different 1.5 T CMR scanners (GE Healthcare) using identical scan parameters. Uncorrected, first, second and third order stationary tissue corrected flow measurement were compared to phantom corrected flow measurements, our reference method, using Medis QFlow, Circle cvi42 and MASS software. The optimal (optimized) stationary tissue order was determined per scanner and software program. Velocity offsets, net flow, clinically significant difference (deviation > 10% net flow), and regurgitation severity were assessed. Results Data from 175 patients (28 (17–38) years) were included, of which 84% had congenital heart disease. First, second and third order and optimized stationary tissue correction did not improve the velocity offsets and net flow measurements. Uncorrected measurements resulted in the least clinically significant differences in net flow compared to phantom corrected data. Optimized stationary tissue correction per scanner and software program resulted in net flow differences (> 10%) in 19% (MASS) and 30% (Circle cvi42) of all measurements compared to 18% (MASS) and 23% (Circle cvi42) with no correction. Compared to phantom correction, regurgitation reclassification was the least common using uncorrected data. One CMR scanner performed worse and significant net flow differences of > 10% were present both with and without stationary tissue correction in more than 30% of all measurements. Conclusion Phase offset errors had a significant impact on net flow quantification, regurgitation assessment and varied greatly between CMR scanners. Background phase correction using stationary tissue correction worsened accuracy compared to no correction on three GE Healthcare CMR scanners. Therefore, careful assessment of phase offset errors at each individual scanner is essential to determine whether routine use of phantom correction is necessary. Trial registration Observational Study

Background: Patients with a bicuspid aortic valve (BAV) are at risk of developing valve deterioration and aortic dilatation. We aimed to investigate whether blood biomarkers are associated with disease stage inpatients with BAV. Methods: Serum levels of high sensitivity C-reactive protein (hsCRP), high sensitivity troponin T (hsTnT), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and total transforming growth factor-beta 1 (TGF-beta 1) were measured in adult BAV patients with valve dysfunction or aortic pathology. Age-matched general population controls were included for TGF beta-1 measurements. Correlation analyses and multivariable linear regression were used to determine the association between (2log-transformed) biomarker levels and aortic valve regurgitation, aortic valve stenosis, aortic dilatation, or left ventricular function. Results: hsCRP and hsTnT were measured in the total group of 183 patients (median age 34 years, 25th-75th percentile 23-46), NT-proBNP in 162 patients, and TGF-beta 1 beta in 108 patients. Elevated levels of NT-proBNP were found in 20% of the BAV patients, elevated hsTnT in 6%, and elevated hsCRP in 7%. Higher hsTnT levels were independently associated with aortic regurgitation [odds ratio per doubling (OR2log) 1.34, 95% CI 1.01;1.76] and higher NT-proBNP levels with aortic valve maximal velocity (beta(2log) 0.17, 95%CI 0.07;028) and aortic regurgitation (OR2log 1.41, 95%CI 1.11;1.79). Both BAV patients with (9.9 +/- 2.7 ng/mL) and without aortic dilatation (10.4 +/- 2.9 ng/mL) showed lower TGF-beta 1 levels compared to general population controls (n = 85, 11.8 +/- 3.2 ng/mL). Conclusions: Higher NT-proBNP and hsTNT levels were associated with aortic valve disease in BAV patients. TGF-beta 1 levels were lower in BAV patients than in the general population, and not related to aortic dilatation. Longitudinal data are needed to further investigate the prognostic value of biomarkers in these patients. (C) 2020 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

Background The prevalence of ischemic heart disease (IHD) in women of child‐bearing age is rising. Data on pregnancies however are scarce. The objective is to describe the pregnancy outcomes in these women. Methods and Results The European Society of Cardiology‐EURObservational Research Programme ROPAC (Registry of Pregnancy and Cardiac Disease) is a prospective registry in which data on pregnancies in women with heart disease were collected from 138 centers in 53 countries. Pregnant women with preexistent and pregnancy‐onset IHD were included. Primary end point were maternal cardiac events. Secondary end points were obstetric and fetal complications. There were 117 women with IHD, of which 104 had preexisting IHD. Median age was 35.5 years and 17.1% of women were smoking. There was no maternal mortality, heart failure occurred in 5 pregnancies (4.8%). Of the 104 women with preexisting IHD, 11 women suffered from acute coronary syndrome during pregnancy. ST‐segment‒elevation myocardial infarction were more common than non‒ST‐segment‒elevation myocardial infarction, and atherosclerosis was the most common etiology. Women who had undergone revascularization before pregnancy did not have less events than women who had not. There were 13 women with pregnancy‐onset IHD, in whom non‒ST‐segment‒elevation myocardial infarction was the most common. Smoking during pregnancy was associated with acute coronary syndrome. Caesarean section was the primary mode of delivery (55.8% in preexisting IHD, 84.6% in pregnancy‐onset IHD) and there were high rates of preterm births (20.2% and 38.5%, respectively). Conclusions Women with IHD tolerate pregnancy relatively well, however there is a high rate of ischemic events and these women should therefore be considered moderate‐ to high‐risk. Ongoing cigarette smoking is associated with acute coronary syndrome during pregnancy.

With the growth of the adult congenital heart disease (CHD) population, so do the considerations of reproduction, contraception and maternal health become more pressing. Fertility issues and concerns about hereditability may impact both male and female CHD patients. CHD can also influence the choice between contraceptive options, as some involve cardiovascular risks that make them less well-suited to the cardiac patient. For women with CHD, pregnancy acts as a haemodynamic stress test for the maternal cardiovascular system and often precipitates cardiac complications including heart failure, arrhythmias and thromboembolic events. For those with CHD, preconception counselling on the cardiac, obstetric and fetal risks involved in pregnancy is crucial for shared decision making and to optimize pregnancy outcomes. Risk stratification should be individualized, multidisciplinary and includes consideration of the complexity of the original CHD lesion, any residual or recurrent lesions, functional class, ventricular and valvular function, cyanosis, previous cardiac events and comorbidities, as well as the use of diagnostic modalities. In this review, we examine reproductive concerns in CHD patients, including preconception counselling, fertility issues and hereditability of CHD. We describe the advantages and disadvantages of the currently available contraceptive options in the context of cardiac disease. We discuss general considerations in the management of pregnancy in CHD, as well as the current knowledge on the most common CHD lesions.

Left ventricular global longitudinal strain (LVGLS) analysis is a sensitive measurement of myocardial deformation most often done using speckle-tracking transthoracic echocardiography (TTE). We propose a novel approach to measure LVGLS using feature-tracking software on the magnitude dataset of 4D flow cardiovascular magnetic resonance (CMR) and compare it to dynamic computed tomography (CT) and speckle tracking TTE derived measurements. In this prospective cohort study 59 consecutive adult patients with a bicuspid aortic valve (BAV) were included. The study protocol consisted of TTE, CT, and CMR on the same day. Image analysis was done using dedicated feature-tracking (4D flow CMR and CT) and speckle-tracking (TTE) software, on apical 2-, 3-, and 4-chamber long-axis multiplanar reconstructions (4D flow CMR and CT) or standard apical 2-, 3-, and 4-chamber acquisitions (TTE). CMR and CT GLS analysis was feasible in all patients. Good correlations were observed for GLS measured by CMR (− 21 ± 3%) and CT (− 20 ± 3%) versus TTE (− 20 ± 3%, Pearson’s r: 0.67 and 0.65, p 0.61, p

Objective: Little is known about the course of echocardiographic parameters used for the evaluation of valvular heart disease (VHD) during pregnancy, hampering interpretation of possible changes (physiological vs. pathophysiological). Therefore we studied the course of these parameters and ventricular function in pregnant women with aortic and pulmonary VHD.Methods: The cohort comprised 66 pregnant women enrolled in the prospective ZAHARA studies or evaluated by an identical protocol who had pulmonary VHD or aortic VHD (stenosis/prosthetic valve). The control group comprised 46 healthy pregnant women. Echocardiography was performed preconception, during pregnancy and 1 year postpartum. Peak gradient, mean gradient, aortic valve area (AVA)/effective orifice area (EOA), left ventricular ejection fraction (LVEF) and right ventricular function (RVF; TAPSE) were assessed.Results: Peak and mean gradients increased during pregnancy compared to preconception inwomen with aortic VHD and controls (p < 0.0125), but not in women with pulmonary VHD. AVA/EOA remained unchanged. Preconception and postpartum gradients were comparable in all groups. Mean LVEF was normal in pregnant women with VHD and controls. Mean TAPSE was lower (p < 0.001) in women with pulmonary VHD compared to women with aortic VHD and controls (= 23 mm; p < 0.001). In women with pulmonary VHD a decrease of TAPSE was observed during pregnancy (p = 0.005).Conclusion: Physiological changes during pregnancy lead to increased Doppler gradients in women with aortic VHD. This increase was not found inwomen with pulmonary VHD, probably caused by impaired RVF. Therefore, evaluation of RVF during pregnancy might be important to prevent underestimation of the degree of stenosis. (c) 2019 Elsevier B.V. All rights reserved.

Cardiovascular disease complicates 1–4% of pregnancies — with a higher prevalence when including hypertensive disorders — and is the leading cause of maternal death. In women with known cardiovascular pathology, such as congenital heart disease, timely counselling is possible and the outcome is fairly good. By contrast, maternal mortality is high in women with acquired heart disease that presents during pregnancy (such as acute coronary syndrome or aortic dissection). Worryingly, the prevalence of acquired cardiovascular disease during pregnancy is rising as older maternal age, obesity, diabetes mellitus and hypertension become more common in the pregnant population. Management of cardiovascular disease in pregnancy is challenging owing to the unique maternal physiology, characterized by profound changes to multiple organ systems. The presence of the fetus compounds the situation because both the cardiometabolic disease and its management might adversely affect the fetus. Equally, avoiding essential treatment because of potential fetal harm risks a poor outcome for both mother and child. In this Review, we examine how the physiological adaptations during pregnancy can provoke cardiometabolic complications or exacerbate existing cardiometabolic disease and, conversely, how cardiometabolic disease can compromise the adaptations to pregnancy and their intended purpose: the development and growth of the fetus. In this Review, Roos-Hesselink and colleagues describe how the physiological adaptations during pregnancy can induce cardiometabolic complications or an exacerbation of existing cardiometabolic disease, and discuss the epidemiology, pathophysiology, diagnosis and management of cardiometabolic diseases acquired or presenting during pregnancy, including hypertensive disorders, gestational diabetes mellitus, thromboembolic disorders and peripartum cardiomyopathy.

Turner syndrome (TS) is associated with coronary artery disease (CAD), an important cause of premature death in TS. However, the determinants of CAD in women with TS remain unknown. In a cross-sectional study design, 168 women without clinical evidence of CAD (115 with TS and 53 without TS) were assessed for the presence and volume of subclinical CAD using coronary CT angiography. Karyotype, the presence of congenital heart defects and conventional cardiovascular risk factors were also registered. Comparative analyses were performed (1) between women with and without TS and (2) in the TS group, between women with and without subclinical CAD. The prevalence of CAD, in crude and adjusted analyses, was not increased for women with TS (crude prevalence: 40 [35%] in TS vs. 25 [47%] in controls, p = 0.12). The volume of atherosclerosis was not higher in women with TS compared with controls (median and interquartile range 0 [0-92] in TS vs. 0 [0-81]mm

ObjectivesWomen with Turner syndrome (TS) are frequently counselled against pregnancy due to lack of data and unclear aortic dissection risk. However, with advances in fertility therapy, more women with TS are contemplating pregnancy. This study compared rates of adverse cardiovascular (CV) outcomes among: (1) pregnant and non-pregnant women with TS and (2) pregnant women with TS with/without structural heart disease.MethodsRetrospective analysis of pregnant and age-matched non-pregnant controls with TS (2005–2017) across 10 CV centres was done. Data were collected at initial evaluation in pregnancy and outcomes were assessed to 6 months postpartum. Adverse CV events were defined as CV death, aortic dissection/rupture and/or aortic intervention. Non-pregnant age-matched controls were followed over the same time period.ResultsSixty-eight pregnancies were included (60 women, mean age 33 years, 48% primigravid, 49% fertility therapy, 80% structurally normal heart, 25% XO karyotype). Based on American Society of Reproductive Medicine criteria, 10 pregnancies occurred in women stratified to high-risk category. There were no CV events in the pregnant women or in the non-pregnant women with TS. Obstetric events complicated 12 (18%) pregnancies with 9 (13%) attributed to hypertensive disorder of pregnancy. Fetal events included small for gestational age neonates (18%), preterm delivery (15%) and fetal death (3%).ConclusionsThis study helps to refine the approach to pregnancy in women with TS. Among women with TS without structural heart disease, pregnancy does not impose an increased risk of CV outcomes. Among women with TS with structural heart disease, the risk of pregnancy is not as prohibitive as previously described but does require ongoing evaluation.

Survival prospects in adults with congenital heart disease (CHD), although improved in recent decades, still remain below expectations for the general population. Patients and their loved ones benefit from preparation for both unexpected and predictable deaths, sometimes preceded by a prolonged period of declining health. Hence, advance care planning (ACP) is an integral part of comprehensive care for adults with CHD. This position paper summarizes evidence regarding benefits of and patients' preferences for ACP and provides practical advice regarding the implementation of ACP processes within clinical adult CHD practice. We suggest that ACP be delivered as a structured process across different stages, with content dependent upon the anticipated disease progression. We acknowledge potential barriers to initiate ACP discussions and emphasize the importance of a sensitive and situation-specific communication style. Conclusions presented in this article reflect agreed expert opinions and include both patient and provider perspectives. ispartof: EUROPEAN HEART JOURNAL vol:41 issue:43 pages:4200-4210 ispartof: location:England status: published

Background and Objectives: After successful surgical repair of a congenital shunt lesion, pulmonary hypertension (PH) often disappears. However, PH can persist long-term after the closure. This study aimed to assess the prevalence of PH long-term after surgical repair of congenital heart disease (CHD), and to evaluate the outcomes and preoperative factors related to residual PH. Materials and Methods: In this retrospective cohort study, we reviewed patients who underwent right heart catheterisation in Vilnius University Hospital Santaros Klinikos during the period of 1985&ndash, 2007. Among 4118 right heart catheterisations performed, 160 patients underwent congenital systemic-to-pulmonary shunt repair at a young age (&lt, 18 years) and had pre-operative PH. Half of the patients were foreigners whose follow-up data were unavailable. Eventually, 88 patients with available follow-up data were included in this study. Results: The median age at diagnosis of CHD with PH was 0.8 (0.6&ndash, 3.0) and 1.1 (0.6&ndash, 3.9) years at surgery (50% females). Residual PH was assessed 9.5 years after surgery and observed in 30.7% (n = 27) of the patients. It was associated with having more than one shunt (44.4% (n = 12), p = 0.016) and higher median pulmonary vascular resistance (3.4 (2.5&ndash, 6.5) vs. 2.2 (1.0&ndash, 3.7), p = 0.035) at baseline. After a median follow-up of 21 (15&ndash, 24) years, 9.1% of the patients were deceased. Kaplan&ndash, Meier survival analysis revealed significantly higher mortality in the residual PH group (p = 0.035). Conclusions: Residual PH affects a significant proportion of patients after surgical repair of a shunt lesion and is associated with worse long-term outcome.

Introduction: The population of adults with congenital heart disease (ACHD) is rapidly expanding and one of the major complications is heart failure. Timely diagnosis and treatment are crucial, but strong evidence for effectiveness of heart failure treatment in ACHD is currently lacking. Components of the medical history, physical examination and further diagnostic tests including ECG, echocardiography, cardiac magnetic resonance imaging, exercise testing, and biomarkers can identify patients at risk for early mortality or heart failure. Areas covered: Although the number of studies guiding evidence-based treatment are expanding, many clinical questions have not been completely answered yet. Therefore, in this review we provide an overview of current available insights in epidemiology, diagnosis, risk stratification and treatment options in ACHD patients, including non-medical therapies and advanced care planning. Expert Opinion: We strongly advocate expanding current use of biomarkers in the diagnostic process and timely initiation of discussing advanced treatment options and advanced care planning with patients and their loved ones. More research in multi-center collaborations is needed to study all aspects of care of adult congenital heart disease patients.

Because the occurrence of infective endocarditis (IE) continues to be associated with high mortality, a working group was created by the Dutch Society of Cardiology to examine how the most recent European Society of Cardiology (ESC) guidelines for IE management could be implemented most effectively in the Netherlands. In order to investigate current Dutch IE practices, the working group conducted a country-wide survey. Based on the results obtained, it was concluded that most ESC recommendations could be endorsed, albeit with some adjustments. For instance, the suggested pre-operative screening and treatment of nasal carriers of Staphylococcus aureus as formulated in the ESC guideline was found to be dissimilar to current Dutch practice, and was therefore made less restrictive. The recently adapted ESC diagnostic criteria for IE were endorsed, while the practical employment of the relevant diagnostic techniques was simplified in an adapted flowchart. In addition, the presence of a multidisciplinary, so-called ‘endocarditis team’ in tertiary centres was proposed as a quality indicator. An adapted flowchart specifically tailored to Dutch practice for microbiological diagnostic purposes was constructed. Lastly, the working group recommended the Stichting Werkgroep Antibioticabeleid (SWAB; Dutch Working Party on Antibiotic Policy) guidelines for IE treatment instead of the antibiotic regimens proposed by the ESC.

ObjectiveThoracic aortic disease (TAD) may have substantial impact on health-related quality of life (HRQOL). We described HRQOL in patients with TAD, cardiovascular screening participants and their partners; identified factors associated with HRQOL; and explored lived experiences and feelings of anxiety or depression using a mixed methods design.MethodsFor this cross-sectional study, all consecutive patients visiting the TAD outpatient clinic (2017–2019) at our centre were asked to complete three questionnaires: the Short Form 36 (SF-36), the Hospital Anxiety and Depression Scale (HADS) and the Rotterdam Disease Specific Questionnaire (RDSQ). A subsample was invited for in-depth interviews.ResultsIn total, 261 participants were included: 147 patients with TAD (thoracic aortic diameter ≥40 mm; 54 females, 36.7%), 114 screening participants (cardiovascular family screening; 71 females, 62.3%) and 66 partners. Compared with the general population, patients with TAD showed markedly lower HRQOL, whereas screening participants’ HRQOL was less impaired. Female and younger participants scored significantly lower on the SF-36 and HADS compared with male and older participants. Smaller aortic diameter was associated with better RDSQ score, and previous aortic surgery was associated with higher HADS depression scores. Furthermore, partners scored significantly lower on 2/8 SF-36 subdomains when compared with the general population. From 11 interviewees, determinants of psychological distress included coping strategies, impact on social and professional life, disease-related knowledge, state of aortic diameters and physical symptoms.ConclusionsHealthcare professionals must be aware of HRQOL impairments in patients with TAD, particularly in younger females. Moreover, attention for partners is needed. Coping strategies and communication within the family were found to be important factors influencing psychological distress, and might be valuable leads for counselling and HRQOL improvement in this population.

Improved clinical care has led to an increase in the number of adults with congenital heart disease (CHD) engaging in leisure time and competitive sports activities. Although the benefits of exercise in patients with CHD are well established, there is a low but appreciable risk of exercise-related complications. Published exercise recommendations for individuals with CHD are predominantly centred on anatomic lesions, hampering an individualized approach to exercise advice in this heterogeneous population. This document presents an update of the recommendations for competitive sports participation in athletes with cardiovascular disease published by the Sports Cardiology & Exercise section of the European Association of Preventive Cardiology (EAPC) in 2005. It introduces an approach which is based on the assessment of haemodynamic, electrophysiological and functional parameters, rather than anatomic lesions. The recommendations provide a comprehensive assessment algorithm which allows for patient-specific assessment and risk stratification of athletes with CHD who wish to participate in competitive sports.

Background Mitral annular disjunction (MAD) is an under-recognized cause of arrhythmic sudden cardiac death, especially in young women. The relation between MAD and the occurrence of arrhythmia during pregnancy has not yet been explored. We would like to stress the importance of careful echocardiographic examination and the vulnerable peripartum period. Case summary A 29-year-old woman survived an out of hospital cardiac arrest 4 months after delivery of her first child. The diagnosis was not clear and an implantable cardioverter-defibrillator (ICD) as secondary prevention was implanted. Her second pregnancy and delivery were uneventful. The 12-lead electrocardiogram demonstrated sinus rhythm with right bundle branch block, ventricular extra systoles (premature ventricular contractions), and a right superior axis, i.e. origin in the inferolateral basal left ventricle. Transthoracic 2D echocardiography showed myxomatous mitral valve disease with moderate mitral valve insufficiency with normal left and right heart dimensions and function. However, 4 weeks after delivery she experienced a sudden syncope at home. Implantable cardioverter-defibrillator reading revealed primary ventricular fibrillation, induced by a ventricular premature beat (VPB), terminated with a successful ICD shock. A frame-by-frame echocardiographic analysis of the mitral valve using biplane echocardiographic analysis allowed diagnosis of MAD with detachment of the root of the annulus from the posterolateral ventricular myocardium during systole. Conclusion Mitral annular disjunction is an under-recognized cause of arrhythmic sudden cardiac death. Biplane echocardiographic analysis of the mitral annulus can identify MAD and as such may help for risk stratification and sudden cardiac death prevention. Careful follow-up is necessary especially during pregnancy and the postpartum period.

Objective: The combination of aortic coarctation (CoA) and bicuspid aortic valve (BAV) is assumed to be associated with a higher risk of ascending aortic dilatation and type A dissection, and current European Society of Cardiology (ESC) guidelines advise therefore to operate at a lower threshold in the presence of CoA. The aim of our study is to evaluate whether the coexistence of CoA in BAV patients is indeed associated with a higher risk of ascending aortic events (AAE). Methods: In a retrospective study, all adult BAV patients visiting the outpatient clinic of our tertiary care center between February 2003 and February 2019 were included. The primary end point was an ascending aortic event (AAE) defined as ascending aortic dissection/rupture or preventive surgery. The secondary end points were aortic dilatation and aortic growth. Results: In total, 499 BAV patients (43.7% female, age 40.3 &plusmn, 15.7 years) were included, of which 121 (24%) had a history of CoA (cBAV). An aortic event occurred in 38 (7.6%) patients at a mean age of 49.0 &plusmn, 13.6 years. In the isolated BAV group (iBAV), significantly more AAE occurred, but this was mainly driven by aortic valve dysfunction as indication for aortic surgery. There was no significant difference in the occurrence of dissection or severely dilated ascending aorta (&gt, 50mm) between the iBAV and cBAV patients (p = 0.56). The aortic diameter was significantly smaller in the cBAV group (30.3 &plusmn, 6.9 mm versus 35.7 &plusmn, 7.6 mm, p &lt, 0.001). The median aortic diameter increase was 0.23 (interquartile range (IQR): 0.0&ndash, 0.67) mm/year and was not significantly different between both groups (p = 0.74). Conclusion: Coexistence of CoA in BAV patients was not associated with a higher risk of aortic dissection, preventive aortic surgery, aortic dilatation, or more rapid aorta growth. This study suggests that CoA is not a risk factor in BAV patients, and the advice to operate at lower diameter should be reevaluated.

Background Sex differences in efficacy and safety of dual antiplatelet therapy remain uncertain because of the underrepresentation of women in cardiovascular trials. The aim of this study was to perform a sex‐specific analysis of the pooled efficacy and safety data of clinical trials comparing a high potent P2Y 12 inhibitor+aspirin with clopidogrel+aspirin in patients with acute coronary syndrome. Methods and Results A systematic literature search was performed. Randomized clinical trials that compared patients following percutaneous coronary intervention/acute coronary syndrome who were taking high potent P2Y 12 inhibitors+aspirin versus clopidogrel+aspirin were selected. Random effects estimates were calculated and relative risks with 95% CIs on efficacy and safety end points were determined per sex. We included 6 randomized clinical trials comparing prasugrel/ticagrelor versus clopidogrel in 43 990 patients (13 030 women), with a median follow‐up time of 1.06 years. Women and men had similar relative risk (RR) reduction for major cardiovascular events (women: RR , 0.89 [95% CI , 0.80–1.00; men: RR , 0.84 [95% CI , 0.79–0.91) ( P for interaction=0.39). Regarding safety, women and men had similar risk of major bleeding by high‐potency dual antiplatelet therapy ( RR , 1.18 [95% CI , 0.98–1.41] versus RR , 1.03 [95% CI , 0.93–1.14]) ( P for interaction=0.20). Conclusions The small and statistically insignificant difference in efficacy and safety estimates of high‐potency dual antiplatelet therapy between women and men following percutaneous coronary intervention/acute coronary syndrome do not justify differential dual antiplatelet therapy treatment for both sexes.

OBJECTIVES Our goal was to report the long-term serial follow-up after transatrial–transpulmonary repair of tetralogy of Fallot (TOF) and to describe the influence of the timing of the repair on outcome. METHODS We included all patients with TOF who had undergone transatrial–transpulmonary repair between 1970 and 2012. Records were reviewed for patient demographics, operative details and events during the follow-up period (death, pulmonary valve replacement, cardiac reinterventions and hospitalization/intervention for arrhythmias). In patients with elective early primary repair of TOF after 1990, a subanalysis of the optimal timing of TOF repair was performed. RESULTS A total of 453 patients were included (63% male patients; 65% had transannular patch); 261 patients underwent primary elective repair after 1990. The median age at TOF repair was 0.7 years (25th–75th percentile 0.3–1.3) and decreased from 1.7 to 0.4 years from before 1990 to after 2000, respectively (P CONCLUSIONS Transatrial–transpulmonary repair of TOF before the age of 6 months may be associated with more events during the long-term follow-up period.