Delivery of care for adult patients with congenital heart disease in Europe: results from the Euro Heart Survey

Aims The increasing number of adults with congenital heart disease (CHD) has prompted the development of recommendations for the management of these patients and for the organization of their healthcare. The aim of this report is to describe the delivery of care in Europe for adults with congenital cardiac anomalies. Methods and results As part of the Euro Heart Survey on Adult Congenital Heart Disease, we obtained data from 71 voluntarily participating centres that detailed their care practices for these patients. Forty-eight of these centres were specialist centres and 23 were non-specialist centres. We found that only 19% of the specialist centres complied with defined standards for optimal care structure. The criteria that appeared to be most difficult for all centres to achieve were performing 50 congenital heart operations or more per year and involving nurse specialists in the care of these patients. Conclusion This survey indicated that the provision of care in Europe for adults with congenital heart defects is suboptimal. To fully realize the benefits of cardiac surgery performed in infants and children, continuous effort must be applied by healthcare professionals in order to implement the recommendations on the organization of care for these patient

Cardiac status and health-related quality of life in the long term after surgical repair of tetralogy of Fallot in infancy and childhood

The long-term results of surgical repair of tetralogy of Fallot were assessed by means of extensive cardiologic examination of 77 nonselected patients 14.7 +/- 2.9 years after surgical repair of tetralogy of Fallot in infancy and childhood. Because of the frequent use of a transannular patch (56%) for the relief of right ventricular outflow tract obstruction, the prevalence of elevated right ventricular systolic pressure was low (8%), but the prevalence of substantial right ventricular dilation with severe pulmonary regurgitation was high (58%). The exercise capacity of patients with a substantially dilated right ventricle proved to be significantly decreased (83% +/- 19% of predicted) when compared with that of patients with a near normal sized right ventricle (96% +/- 13%). Eight out of 10 patients who had needed treatment for symptomatic arrhythmia had supraventricular arrhythmia, which makes supraventricular arrhythmia--in numbers--a more important sequela in the long-term survivors than ventricular arrhythmia. Older age at the time of the operation and longer duration of follow-up were not associated with an increase in prevalence or clinical significance of sequela

Validation of Real-time Transthoracic 3D echocardiography in Children with Congenital Heart Disease

Aims: Assessment of feasibility, accuracy and applicability in clinical practice of real-time three-dimensional echocardiography (RT-3DE) in children with congenital heart defects. Methods and results: From September 2004 to June 2005, 100 consecutive children (57 infants, 43 children > 1 year of age), who were scheduled for corrective intracardiac surgery, were enrolled in this study. RT-3DE was performed with Philips Sonos 7500 echo-system and off-line analysis with TomTec Echoview© software. Quantitative and qualitative assessments of the region of interest were performed on the 3D reconstruction, comparing these results with the anatomic findings and measurements performed during intracardiac surgery. Acquisition of RT-3DE datasets was feasible in 92 of the 100 (92%) patients and acquisition time was 6 ± 3 minutes. The overall quantitative analyses showed an excellent correlation (r < 0.90) between RT-3De and surgery. Also the qualitative analyses were accurate compared with surgical findings, in all patients in which RT-3DE was feasible. Conclusion: This study shows that RT-3DE can be used in the clinical practice for the assessment of intracardiac anatomy in children with congenital heart disease. The information derived from the 3D reconstructions can be taken into consideration in the preoperative planning and management regarding interventional or surgical therapy

High burden of drug therapy in adult congenital heart disease:polypharmacy as marker of morbidity and mortality

Aims To assess medication use in adult congenital heart disease (ACHD) patients compared to the age- and sex-matched general population, identify patterns of pharmacotherapy, and analyse associations between pharmacotherapy and adverse outcomes in ACHD.Methods and results Data of 14 138 ACHD patients from the CONCOR registry [35 (24-48) years, 49% male] and age- and sex-matched referents (1:10 ratio) were extracted from the Dutch Dispensed Drug Register for the years 2006-14. Adult congenital heart disease patients had more cardiovascular and non-cardiovascular drugs than referents (median 3 vs. 1, P= 5 dispensed drug types yearly, was present in 30% of ACHD and 15% of referents {odds ratio [OR]=2.47 [95% confidence interval (CI) 2.39-2.54]}. Polypharmacy was independently associated with female sex [OR=1.92 (95% CI 1.88-1.96)], older age [for men: OR=2.3/10years (95% CI 2.2-2.4) and for women: OR=1.6/10years (95% CI 1.5-1.6); P-interactionConclusion Both cardiovascular and non-cardiovascular medication use is high in ACHD with twice as much polypharmacy compared with the matched general population. Patients with polypharmacy had a four-fold increased risk of mortality and adverse drug events. Recognition of distinct medication patterns can help identify patients at highest risk. Drug regimens need repeating evaluation to assess the appropriateness of all prescriptions. More high-quality studies are needed to improve ACHD care with more evidence-based pharmacotherapy.</p

Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries

Background: Clinical factors are used to estimate late complication risk in adults after atrial switch operation (AtrSO) for transposition of the great arteries (TGA), but heterogeneity in clinical course remains. We studied whether common genetic variants are associated with outcome and add value to a clinical risk score in TGA-AtrSO patients. Methods and results: This multicenter study followed 133 TGA-AtrSO patients (aged 28 [IQR 24–35] years) for 13 (IQR 9–16) years and examined the association of genome-wide single-nucleotide polymorphisms (SNPs) with a composite endpoint of symptomatic ventricular arrhythmia, heart failure hospitalization, ventricular assist device implantation, heart transplantation, or mortality. Thirty-two patients (24%) reached the endpoint. The genome-wide association study yielded one genome-wide significant (p 20%) risk. Stratified by the combined score, observed 5-year event-free survival was 100%, 79% and 31% for low, intermediate, and high-risk patients, respectively. Conclusions: Common genetic variants may explain some variation in the clinical course in TGA-AtrSO and improve risk stratification over clinical factors alone, especially in patients at intermediate clinical risk. These findings support the hypothesis that including genetic variants in risk assessment may be beneficial

Dynamic 3D echocardiography in virtual reality

BACKGROUND: This pilot study was performed to evaluate whether virtual reality is applicable for three-dimensional echocardiography and if three-dimensional echocardiographic 'holograms' have the potential to become a clinically useful tool. METHODS: Three-dimensional echocardiographic data sets from 2 normal subjects and from 4 patients with a mitral valve pathological condition were included in the study. The three-dimensional data sets were acquired with the Philips Sonos 7500 echo-system and transferred to the BARCO (Barco N.V., Kortrijk, Belgium) I-space. Ten independent observers assessed the 6 three-dimensional data sets with and without mitral valve pathology. After 10 minutes' instruction in the I-Space, all of the observers could use the virtual pointer that is necessary to create cut planes in the hologram. RESULTS: The 10 independent observers correctly assessed the normal and pathological mitral valve in the holograms (analysis time approximately 10 minutes). CONCLUSION: this report shows that dynamic holographic imaging of three-dimensional echocardiographic data is feasible. However, the applicability and use-fullness of this technology in clinical practice is still limited

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10-10, OR=0.69 per C allele). SNP-based heritability analysis showed that 25% of variance in susceptibility to D-TGA may be explained by common variants. A genome-wide polygenic risk score derived from the discovery set was significantly associated to D-TGA in the replication set (P=4x10-5). The genome-wide significant locus (3p14.3) co-localizes with a putative regulatory element that interacts with the promoter of WNT5A, which encodes the Wnt Family Member 5A protein known for its role in cardiac development in mice. We show that this element drives reporter gene activity in the developing heart of mice and zebrafish and is bound by the developmental transcription factor TBX20. We further demonstrate that TBX20 attenuates Wnt5a expression levels in the developing mouse heart. CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near WNT5A. Genomic and functional data support a causal role of WNT5A at the locus

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10 CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 nea

Big data analytics in adult congenital heart disease : Why coding matters

This editorial refers to ‘Machine learning algorithms estimating prognosis and guiding therapy in adult congenital heart disease: data from a single tertiary centre including 10 019 patients’†, by G.-P. Diller et al., on page 1069