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Background: The Netherlands are lacking reliable empirical data in relation to the development of birth and population prevalence of Down syndrome. For the UK and Ireland there are more historical empirical data available. A theory-based model is developed for predicting Down syndrome prevalence in the Netherlands from the 1950s onwards. It is likewise applied to Ireland and the UK for the purpose of validation. Furthermore, a prediction to 2050 is constructed. Materials and Methods: Maternal age births data in the general population, maternal age related risk of Down syndrome, data on selective terminations of Down syndrome pregnancies and mortality rates (from 35 studies from the 1930s until today) were obtained to create this model. Results: For the Netherlands, nowadays birth prevalence is estimated at 14 per 10 000 with around 275 total annual births. The impact of selective abortion is lower than in the UK. Present Dutch Down syndrome population prevalence is estimated, according to this theory-based model, at 7.7 per 10 000 and the grand total at 12 600 individuals. The prevalence of "older" persons with Down syndrome (over 40 years of age) in the Netherlands will reach a peak in 2010, a doubling compared to 1990, implying an increased demand on medical care and counselling. Validity of this theory-based model was examined by comparison with relevant available empirical data from the three countries. The model shows a good fit with historical empirical research, notably four UK and two Irish population prevalence studies and eight birth prevalence studies. Conclusions: A theory-based model for Down syndrome prevalence provides supplementary data in situations with a lack of empirical material and can be used for understanding and predicting long-term developments.

Marfan syndrome (MFS) is a connective tissue disorder affecting the cardiovascular, ocular, and skeletal system, which may be accompanied by psychological features. This study aimed to determine the prevalence of fatigue, anxiety, and symptoms of depression in MFS patients, and to assess the degree to which sociodemographic and clinical variables are associated with fatigue and psychological aspects. The prevalence of fatigue, anxiety, and symptoms of depression were assessed in two cohorts of MFS patients and compared with healthy controls. The checklist individual strength (CIS), and hospital anxiety and depression scale (HADS) questionnaires were utilized. Medical status was assessed (family history of MFS, aortic root dilatation >40 mm, previous aortic surgery, aortic dissection, chronic pain, skeletal involvement, and scoliosis). Severe fatigue was experienced by 37% of the total MFS cohort (n = 155). MFS patients scored significantly higher on the CIS questionnaire, concerning severe fatigue, as compared with the general Dutch population (p < 0.0001). There were no differences in HADS anxiety or depression scores. In older MFS patients, with a more severe cardiovascular phenotype, chronic pain, and a higher unemployment rate, significantly more symptoms of depression were observed, when compared with the general population (p = 0.027) or compared with younger MFS patients (p = 0.026). Multivariate analysis, showed that anxiety was associated with chronic pain (p = 0.022) and symptoms of depression with unemployment (p = 0.024). MFS patients report significantly more severe fatigue as compared with the general population. Since the cause of fatigue is unclear, more research may be needed. Psychological intervention, for example, cognitive behavioral therapy, may contribute to a reduction in psychological symptoms. [ABSTRACT FROM AUTHOR]

The article presents the discussion on guidelines summarizing and evaluating evidence with the aim of assisting health professionals in proposing the best management strategies for an individual patient with a given condition. Topics include evaluating the level of implementation of the Guidelines using by the ESC, hospitals, healthcare providers, and professionals; and creating educational tools and implementation programmes for the recommendations.

Aims The COMPARE trial showed a small but significant beneficial effect of 3-year losartan treatment on aortic root dilatation rate in adults with Marfan syndrome (MFS). However, no significant effect was found on clinical endpoints, possibly due to a short follow-up period. The aim of the current study was therefore to investigate the long-term clinical outcomes after losartan treatment. Methods and results In the original COMPARE study (inclusion 2008–2009), adult patients with MFS (n  = 233) were randomly allocated to either the angiotensin-II receptor blocker losartan® on top of regular treatment (β-blockers in 71% of the patients) or no additional medication. After the COMPARE trial period of 3 years, study subjects chose to continue their losartan medication or not. In a median follow-up period of 8 years, 75 patients continued losartan medication, whereas 78 patients, originally allocated to the control group, never used losartan after inclusion. No differences existed between baseline characteristics of the two groups except for age at inclusion [losartan 34 (interquartile range, IQR 26–43) years, control 41 (IQR 30–52) years; P  = 0.031], and β-blocker use (losartan 81%, control 64%; P  = 0.022). A pathological FBN1 mutation was present in 76% of patients and 58% of the patients were male. Clinical endpoints, defined as all-cause mortality, aortic dissection/rupture, elective aortic root replacement, reoperation, and vascular graft implantation beyond the aortic root, were compared between the two groups. A per-patient composite endpoint was also analysed. Five deaths, 14 aortic dissections, 23 aortic root replacements, 3 reoperations, and 3 vascular graft implantations beyond the aortic root occurred during follow-up. Except for aortic root replacement, all endpoints occurred in patients with an operated aortic root. Patients who used losartan during the entire follow-up period showed a reduced number of events compared to the control group (death: 0 vs. 5, P  = 0.014; aortic dissection: 3 vs. 11, P  = 0.013; elective aortic root replacement: 10 vs. 13, P  = 0.264; reoperation: 1 vs. 2, P  = 0.463; vascular graft implantations beyond the aortic root 0 vs. 3, P  = 0.071; and composite endpoint: 14 vs. 26, P  = 0.019). These results remained similar when corrected for age and β-blocker use in a multivariate analysis. Conclusion These results suggest a clinical benefit of combined losartan and β-blocker treatment in patients with MFS. Open in new tab Download slide Open in new tab Download slide [ABSTRACT FROM AUTHOR]

Background Mobile health (mHealth) can improve quality of care and empower cardiac patients. However, large-scale adoption is still lacking, as several challenges continue to be encountered in daily practice. We aimed to explore the mHealth experiences and challenges in cardiac patients, healthcare professionals, healthcare managers and information and communications technology (ICT) developers. Methods A qualitative research was employed where semistructured interviews were conducted in patients, healthcare professionals, managers and ICT developers. We aimed to enrol participants of every stakeholder group, with diversity in sex, age group and occupation. Thematic analysis was used to identify themes reflecting experiences and challenges in mHealth in cardiac patients. Results In total, 24 interviews were conducted in six patients, eight healthcare professionals, five managers and five ICT developers. Monitoring/care at home was reported as important advantage of mHealth (n=20, 83%). Patients valued increase of self-care (n=6, 100%) and remote reassurance (n=6, 100%), but reported medicalisation as important concern (n=4, 67%). Healthcare professionals warned for increased data burden (n=4, 50%). Managers agreed on the importance of device reliability (n=5, 100%) and ICT developers emphasised that the goal of mHealth is to replace care, rather than being supplementary (n=4, 80%). The majority of all participants (n=22, 92%) considered future use of mHealth as promising. Conclusions All stakeholders foresee benefit of mHealth in cardiac patients, especially for remote care and reassurance. Frequently mentioned challenges included the need to replace care with mHealth, rather than adding more workload, and employing reliable devices and applications. If collaboration can be improved and group-specific challenges overcome, success of mHealth in cardiac patients can improve significantly. [ABSTRACT FROM AUTHOR]

Objective: To study neo-aortic growth and the evolution of neo-aortic valve regurgitation (AR) in patients with transposition of the great arteries (TGA) after arterial switch operation (ASO) from newborn to adulthood and to identify patients at risk.Methods: Neo-aortic dimensions (annulus/root/sinotubular junction) and neo-aortic valve regurgitation were assessed serially in 345 patients with TGA who underwent ASO between 1977 and 2015. Linear mixed-effect models were used to assess increase of neo-aortic dimensions over time and to identify risk factors for dilatation. Risk factor analysis for AR by using time-dependent Cox regression models.Results: After a rapid increase in the first year after ASO and proportional growth in childhood, neo-aortic dimensions continue to increase in adulthood without stabilisation. Annual diameter increase in adulthood was 0.39±0.06, 0.63±0.09 and 0.54±0.11 mm for, respectively, neo-aortic annulus, root and sinotubular junction, all significantly exceeding normal growth. AR continues to develop over time: freedom from AR ≥moderate during the first 25 years post-ASO was 69%. Risk factors for root dilatation were complex TGA anatomy (TGA-ventricular septal defect (VSD), double outlet right ventricle with subpulmonary VSD) and male gender. Risk factors for AR ≥moderate were: complex TGA anatomy and neo-aortic growth. Per millimetre increase in aortic root dimension, there was a 9% increase in the hazard of AR ≥moderate. Bicuspid pulmonary valve did not relate to the presence of root dilatation or AR.Conclusion: After ASO, neo-aortic dilatation proceeds beyond childhood and is associated with an increase in AR incidence over time. Careful follow-up of the neo-aortic valve and root function is mandatory, especially in males and in patients with complex TGA anatomy. [ABSTRACT FROM AUTHOR]

Objective: Long-term prognosis of patients with coarctation of the aorta (CoA) is impaired due to the high prevalence of hypertension and consequent cardiovascular complications. Although stent implantation results in acute anatomical and haemodynamic benefit, limited evidence exists regarding the late clinical outcome. In this meta-analysis, we aimed to evaluate the medium-term effect of stent placement for CoA on systemic blood pressure (BP).Methods: PubMed, EMBASE and Cochrane databases were searched for non-randomised cohort studies addressing systemic BP ≥12 months following CoA stenting. Meta-analysis was performed on the change in BP from baseline to last follow-up using a random-effects model. Subgroup analyses and meta-regression were conducted to identify sources of heterogeneity between studies.Results: Twenty-six studies with a total of 1157 patients and a median follow-up of 26 months were included for final analysis. Meta-analysis showed a 20.3 mm Hg (95% CI 16.4 to 24.1 mm Hg; p<0.00001) reduction in systolic BP and an 8.2 mm Hg (12 studies; 95% CI 5.2 to 11.3 mm Hg; p<0.00001) reduction in diastolic BP. A concomitant decrease in the use of antihypertensive medication was observed. High systolic BP and peak systolic gradient at baseline and stenting of native CoA were associated with a greater reduction in systolic BP at follow-up.Conclusions: Stent implantation for CoA is associated with a significant decline in systolic and diastolic BP during medium-term follow-up. The degree of BP reduction appears to be dependent on baseline systolic BP, baseline peak systolic gradient, and whether stenting is performed for native or recurrent CoA. [ABSTRACT FROM AUTHOR]

Introduction: Studies 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.Methods: We 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.Results: 116 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).Conclusion: Pregnancies 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. [ABSTRACT FROM AUTHOR]

Aims Functional tricuspid regurgitation (TR) associated with atrial septal defects (ASDs) is frequently present due to right-sided volume-overload. Tricuspid valve (TV) repair is often considered in candidates for surgical ASD closure, and percutaneous TV repair is currently under clinical investigation. In this study, we develop a prediction model to identify patients with residual moderate/severe TR after percutaneous ASD closure. Methods and results In this observational study, 172 adult patients (26% male, age 49 ± 17 years) with successful percutaneous ASD closure had pre- and post-procedural echocardiography. Right heart dimensions/function were measured. TR was assessed semi-quantitatively. A prediction model for 6-month post-procedural moderate/severe TR was derived from uni-and multi-variable logistic regression. Clinical follow-up (FU) was updated and adverse events were defined as cardiovascular death or hospitalization for heart failure. Pre-procedural TR was present in 130 (76%) patients (moderate/severe: n  = 64) of which 72 (55%) had ≥1 grade reduction post-closure. Independent predictors of post-procedural moderate/severe TR (n  = 36) were age ≥60 years [odds ratio (OR) 2.57; P  = 0.095], right atrial end-diastolic area ≥10cm2/m2 (OR 3.36; P  = 0.032), right ventricular systolic pressure ≥44 mmHg (OR 6.44; P  = 0.001), and tricuspid annular plane systolic excursion ≤2.3 cm (OR 3.29; P  = 0.037), producing a model with optimism-corrected C-index = 0.82 (P  < 0.001). Sensitivity analysis excluding baseline none/mild TR yielded similar results. Patients with moderate/severe TR at 6-month FU had higher adverse event rates [hazard ratio = 6.2 (95% confidence interval 1.5–26); log-rank P  = 0.004] across a median of 45 (30–76) months clinical FU. Conclusion This study shows that parallel to reduction of volume-overload and reverse remodelling after percutaneous ASD closure, TR improved substantially despite significant TR at baseline. Our proposed risk model helps identify ASD patients in whom TR regression is unlikely after successful percutaneous closure. [ABSTRACT FROM AUTHOR]

Aims Sudden cardiac death (SCD) causes a large portion of all mortality in adult congenital heart disease (ACHD) patients. However, identification of high-risk patients remains challenging. Fragmented QRS-complexes (fQRS) are a marker for SCD in patients with acquired heart disease but data in ACHD patients are lacking. We therefore aim to evaluate the prognostic value of fQRS for SCD in ACHD patients. Methods and results From a multicentre cohort of 25 790 ACHD patients, we included tachyarrhythmic SCD cases (n  = 147), and controls (n  = 266) matched by age, gender, congenital defect and (surgical) intervention. fQRS was defined as ≥1 discontinuous deflection in narrow QRS-complexes, and ≥2 in wide QRS-complexes (>120 ms), in two contiguous ECG leads. We calculated odds ratios (OR) using univariable and multivariable conditional logistic regression models correcting for impaired systemic ventricular function, heart failure and QRS duration >120 ms. ECGs of 147 SCD cases (65% male, median age of death 34 years) and of 266 controls were assessed. fQRS was present in 51% of cases and 34% of controls (OR 2.0, P  =   0.003). In multivariable analysis, fQRS was independently associated with SCD (OR 1.9, P  =   0.01). The most common diagnose of SCD cases was tetralogy of Fallot (ToF, 34 cases). In ToF, fQRS was present in 71% of cases vs. 43% of controls (OR for SCD 2.8, P  =   0.03). Conclusions fQRS was independently associated with SCD in ACHD patients in a cohort of SCD patients and matched controls. fQRS may therefore contribute to the decision when evaluating ACHD patients for primary prevention of SCD. [ABSTRACT FROM AUTHOR]

Aims: Sudden cardiac death (SCD) causes a large portion of all mortality in adult congenital heart disease (ACHD) patients. However, identification of high-risk patients remains challenging. Fragmented QRS-complexes (fQRS) are a marker for SCD in patients with acquired heart disease but data in ACHD patients are lacking. We therefore aim to evaluate the prognostic value of fQRS for SCD in ACHD patients.Methods and results: From a multicentre cohort of 25 790 ACHD patients, we included tachyarrhythmic SCD cases (n = 147), and controls (n = 266) matched by age, gender, congenital defect and (surgical) intervention. fQRS was defined as ≥1 discontinuous deflection in narrow QRS-complexes, and ≥2 in wide QRS-complexes (>120 ms), in two contiguous ECG leads. We calculated odds ratios (OR) using univariable and multivariable conditional logistic regression models correcting for impaired systemic ventricular function, heart failure and QRS duration >120 ms. ECGs of 147 SCD cases (65% male, median age of death 34 years) and of 266 controls were assessed. fQRS was present in 51% of cases and 34% of controls (OR 2.0, P = 0.003). In multivariable analysis, fQRS was independently associated with SCD (OR 1.9, P = 0.01). The most common diagnose of SCD cases was tetralogy of Fallot (ToF, 34 cases). In ToF, fQRS was present in 71% of cases vs. 43% of controls (OR for SCD 2.8, P = 0.03).Conclusions: fQRS was independently associated with SCD in ACHD patients in a cohort of SCD patients and matched controls. fQRS may therefore contribute to the decision when evaluating ACHD patients for primary prevention of SCD. [ABSTRACT FROM AUTHOR]

Introduction: The number of grown-up congenital heart disease (GUCH) patients is steadily increasing. Unfortunately, the majority of these patients suffer from late sequelae, with heart failure being the most common cause of death. Exercise training is beneficial and safe in patients with acquired heart failure, as well as in asymptomatic GUCH patients. However, its effect remains unknown in symptomatic GUCH patients. This could cause reticence on positive sports advice, with possible counterproductive effects. Areas covered: A review of current literature was performed to evaluate the effect of exercise training in symptomatic (NYHA≥2) GUCH patients. The search yielded a mere three studies including symptomatic patients, and another six studies including also patients in NYHA 1 without making clear distinction between the NYHA subgroups. Expert commentary: Suboptimal trial designs, low patient numbers, and homogeneity of investigated cardiac anomalies make this review insufficient to draw definite conclusions. However, all studies describe overall positive effects of exercise training in symptomatic GUCH patients in terms of exercise capacity and quality of life. There were no safety concerns. Larger-scaled, randomized controlled trials are needed to obtain certainty. [ABSTRACT FROM AUTHOR]

Cardioembolic sources account for 20-30% of ischaemic strokes and are important to identify considering their prognostic and therapeutic implications. During the past years, new developments have been made in the cardiac diagnostic evaluation and management of patients with ischaemic stroke, especially regarding strokes of unknown aetiology. These recent advances have had a major impact on our understanding of embolic strokes, their diagnostic work-up, and clinical management. Herein, we propose a cardiac diagnostic work-up scheme for patients with ischaemic stroke from definite cardioembolic sources and embolic strokes of undetermined source. [ABSTRACT FROM AUTHOR]