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Objective: To determine factors associated with coronary artery disease (CAD) and ischaemic stroke in ageing adult congenital heart disease (ACHD) patients.Methods: We performed a multicentre case-control study, using data from the national CONgenital CORvitia (CONCOR) registry to identify ACHD patients within five participating centres. Patients with CAD were matched (1:2 ratio) with ACHD patients without CAD on age, CHD defect group and gender. Patients with ischaemic stroke (or transient ischaemic attack) were matched similarly. Medical charts were reviewed and a standardised questionnaire was used to determine presence of risk factors.Results: Of 6904 ACHD patients, a total of 55 cases with CAD (80% male, mean age 55.1±12.4 years) and 56 cases with stroke (46% male, mean age 46.9±15.2) were included and matched with control patients. In multivariable logistic regression analysis, traditional atherosclerotic risk factors (hypertension (OR 2.45; 95% CI 1.15 to 5.23), hypercholesterolaemia (OR 3.99; 95% CI 1.62 to 9.83) and smoking (OR 2.25; 95% CI 1.09 to 4.66)) were associated with CAD. In contrast, these risk factors were not associated with ischaemic stroke. In multivariable analysis, stroke was associated with previous shunt operations (OR 4.20; 95% CI 1.36 to 12.9), residual/unclosed septal defects (OR 2.38; 95% CI 1.03 to 5.51) and left-sided mechanical valves (OR 2.67; 95% CI 1.09 to 6.50).Conclusions: Traditional atherosclerotic risk factors were associated with CAD in ACHD patients. In contrast, ischaemic stroke was related to factors (previous shunts, septal defects, mechanical valves) suggesting a cardioembolic aetiology. These findings may inform surveillance and prevention strategies. [ABSTRACT FROM AUTHOR]

Background: The effect of FBN1 mutation type on the severity of cardiovascular manifestations in patients with Marfan syndrome (MFS) has been reported with disparity results.Objectives: This study aims to determine the impact of the FBN1 mutation type on aortic diameters, aortic dilation rates and on cardiovascular events (ie, aortic dissection and cardiovascular mortality).Methods: MFS patients with a pathogenic FBN1 mutation followed at two specialised units were included. FBN1 mutations were classified as being dominant negative (DN; incorporation of non-mutated and mutated fibrillin-1 in the extracellular matrix) or having haploinsufficiency (HI; only incorporation of non-mutated fibrillin-1, thus a decreased amount of fibrillin-1 protein). Aortic diameters and the aortic dilation rate at the level of the aortic root, ascending aorta, arch, descending thoracic aorta and abdominal aorta by echocardiography and clinical endpoints comprising dissection and death were compared between HI and DN patients.Results: Two hundred and ninety patients with MFS were included: 113 (39%) with an HI-FBN1 mutation and 177 (61%) with a DN-FBN1. At baseline, patients with HI-FBN1 had a larger aortic root diameter than patients with DN-FBN1 (HI: 39.3±7.2 mm vs DN: 37.3±6.8 mm, p=0.022), with no differences in age or body surface area. After a mean follow-up of 4.9±2.0 years, aortic root and ascending dilation rates were increased in patients with HI-FBN1 (HI: 0.57±0.8 vs DN: 0.28±0.5 mm/year, p=0.004 and HI: 0.59±0.9 vs DN: 0.30±0.7 mm/year, p=0.032, respectively). Furthermore, patients with HI-FBN1 tended to be at increased risk for the combined endpoint of dissection and death compared with patients with DN-FBN1 (HR: 3.3, 95% CI 1.0 to 11.4, p=0.060).Conclusions: Patients with an HI mutation had a more severely affected aortic phenotype, with larger aortic root diameters and a more rapid dilation rate, and tended to have an increased risk of death and dissections compared with patients with a DN mutation. [ABSTRACT FROM AUTHOR]

Background: Survival data that are applicable to the current population of adults with congenital heart disease (CHD) are not available.Objectives: Using an alternative survival analysis with age as the primary time scale, we assessed the contemporary survival of adult patients with CHD.Methods: Survival was assessed using prospective data of the national registry of adult patients with CHD of the Netherlands. Survival was stratified by severity and lesion, and compared with a standardised general population.Results: Mean age at inclusion was 37 years, and 49% of the study population was male. During a cumulative prospective follow-up of 90, 270 patient-years in 14, 327 patients, 535 deaths occurred. Median survival was 53.4 (95% CI 49.9 to 60.7), 75.4 (95% CI 72.9 to 79.1) and 84.1 (95% CI 81.9 to 87.0) years for patients with severe, moderate and mild lesions, respectively. Survival of most patients with mild lesions did not differ from the general population, while, as expected, survival of patients with severe and moderate lesions was substantially lower (<0.001).Conclusions: The present study gives insight in the contemporary survival of adults with CHD. This may aid patient counselling, timing of interventions and future research. [ABSTRACT FROM AUTHOR]

Background In patients with repaired tetralogy of Fallot (rTOF), multiple reoperations or percutaneous interventions after pulmonary valve replacement (PVR) may be necessary due to limited homograft durability. However, data to guide individualised prediction of homograft durability remain scarce. The aim of this study was to provide risk models for RV to pulmonary artery homograft durability. Methods This retrospective multicentre study included consecutive patients with rTOF who had undergone PVR at an age of >12 years. Homograft dysfunction was defined as at least moderate pulmonary regurgitation (PR) or pulmonary stenosis (PS) (pressure gradient ≥36 mm Hg) as assessed by echocardiography. Reintervention was defined as percutaneous intervention or redo-PVR. Results A total of 153 patients with rTOF were included (62% male, mean age at PVR 31±11 years, pulmonary homograft 96%, follow-up 9.6 years (IQR 5.9, 13.3)). Average freedom from homograft dysfunction and reintervention after 10 years was 74% and 89%, respectively. In multivariable Cox proportional hazards analysis, postoperative PS ≥20 mm Hg (HR 6.52, 95% CI 3.09 to 13.7), postoperative PR ≥ grade 1 (HR 3.13, 95% CI 1.45 to 6.74) and age at PVR <18 years (HR 3.52, 95% CI 1.64 to 7.53) were independently predictive for homograft dysfunction. In patients without any risk factor, 10-year freedom from homograft dysfunction and reintervention was excellent (91% and 96%, respectively) in contrast to patients with ≥2 risk factors (25% and 73%, respectively). Conclusions Individualised prediction of homograft durability in patients with rTOF can be guided by early postoperative echocardiography. In adult patients without early postoperative PS or PR, homograft dysfunction and reintervention are unlikely to occur within 10 years, and follow-up may be less stringent. [ABSTRACT FROM AUTHOR]

Objective To assess the extent and the characteristics of hospital admissions in registered adult patients with congenital heart disease. Design Observational cohort study. Setting The Netherlands. Patients 5798 adult patients with congenital heart disease from the Dutch CONCOR national registry linked to the Dutch National Medical Registration (Prismant). Main outcome measures All hospital admissions from the years 2001 up until 2006. Results During 28⇔990 patient-years, 2908 patients (50%) were admitted to hospital. Median age at admission was 39 years (range 18-86 years); 46% were male. Admission rate in CONCOR patients was high among all ages (range 11-68%) and exceeded that of the general Dutch population two to three times; this difference was most pronounced in the older age groups. Altogether there were 8916 admissions, 5411 (61%) of which were for cardiovascular indications. Among cardiovascular admissions, referrals for arrhythmias were most common (31%). Of 4926 interventions, 2459 (50%) were cardiovascular, most often reparative interventions or cardioversion (53%). Most non-cardiovascular admissions were obstetric. Among defects, univentricular heart and tricuspid atresia had the highest incidence and duration of admission. Conclusions Healthcare utilisation in registered and medically supervised adult patients with congenital heart disease is high and increases with age. Admission rates are at least two times higher than in the general population, and most marked in the older age groups. With the ageing of this population, a major increase in healthcare utilisation is imminent in the near future. Timely preparation of healthcare resources is crucial to sustain optimal care. [ABSTRACT FROM AUTHOR]

Objective: To construct an adjusted nomogram for the echocardiographic screening of aortic root diameter in children with possible Marfan disease.Design: In 91 children (42 boys, 49 girls, age range 3.2 to 18.4 years) undergoing Marfan screening from 1983 until 1996, the diagnosis Marfan syndrome and any other aortic pathology was definitely ruled out. These served as a control population to set appropriate reference standards.Results: Compared with a standard Dutch reference population, body surface area of the control subjects (mean (SD)) was above the 50th centile (boys 0.09 (0.20) m2, range -0.28 to 0.69 m2; girls 0.09 (0.17) m2, range -0.17 to 0.69 m2). Echocardiographically determined aortic root diameter and body surface area showed a linear relation and a greater variability of aortic root diameter in these relatively tall subjects (n = 91, R2 = 0.62) than in the standard nomogram (n = 56, R2 = 0.93). In 24% of cases (n = 22), the aortic root exceeded the upper limit of normal in the standard nomogram, by 2.2 (2.0) mm. An adjusted nomogram was constructed with a higher upper limit.Conclusions: A Marfan screening population differs from the unselected population in body surface area and aortic root size variability. An adjusted nomogram should therefore be used to detect a truly enlarged aortic root. [ABSTRACT FROM AUTHOR]

Background: In patients with repaired tetralogy of Fallot (rTOF), multiple reoperations or percutaneous interventions after pulmonary valve replacement (PVR) may be necessary due to limited homograft durability. However, data to guide individualised prediction of homograft durability remain scarce. The aim of this study was to provide risk models for RV to pulmonary artery homograft durability.Methods: This retrospective multicentre study included consecutive patients with rTOF who had undergone PVR at an age of >12 years. Homograft dysfunction was defined as at least moderate pulmonary regurgitation (PR) or pulmonary stenosis (PS) (pressure gradient ≥36 mm Hg) as assessed by echocardiography. Reintervention was defined as percutaneous intervention or redo-PVR.Results: A total of 153 patients with rTOF were included (62% male, mean age at PVR 31±11 years, pulmonary homograft 96%, follow-up 9.6 years (IQR 5.9, 13.3)). Average freedom from homograft dysfunction and reintervention after 10 years was 74% and 89%, respectively. In multivariable Cox proportional hazards analysis, postoperative PS ≥20 mm Hg (HR 6.52, 95% CI 3.09 to 13.7), postoperative PR ≥ grade 1 (HR 3.13, 95% CI 1.45 to 6.74) and age at PVR <18 years (HR 3.52, 95% CI 1.64 to 7.53) were independently predictive for homograft dysfunction. In patients without any risk factor, 10-year freedom from homograft dysfunction and reintervention was excellent (91% and 96%, respectively) in contrast to patients with ≥2 risk factors (25% and 73%, respectively).Conclusions: Individualised prediction of homograft durability in patients with rTOF can be guided by early postoperative echocardiography. In adult patients without early postoperative PS or PR, homograft dysfunction and reintervention are unlikely to occur within 10 years, and follow-up may be less stringent. [ABSTRACT FROM AUTHOR]