This review explores the quality of life of adult congenital heart disease patients and the relationship between disease severity and quality of life.

We searched seven electronic databases and the bibliography of articles. The 31 selected studies fulfilled the following criteria: adult population; quantitative; assessment of quality of life and/or impact of disease severity on quality of life using validated measures; English language. Data extraction forms were used to summarise the results.

There are evident methodological limitations within the reviewed studies such as heterogeneous populations, designs, and quality of life conceptualisations and measurements. Despite these problems, findings suggest that the quality of life of adult congenital heart disease patients is compromised in the physical domain compared with their healthy counterparts, whereas no differences were found in relation to the psychosocial and environmental/occupational domain. Some severity variables appear to be significant correlates of quality of life and could be considered in a future standardised classification of disease severity.

The methodological limitations of past research in relation to the definition and measurement of quality of life, the study designs, and disease severity classifications need to be addressed in future studies in order to provide robust evidence and valid conclusions in this area of study. This will enable the development of targeted interventions for the improvement of quality of life in the adult population of congenital heart disease patients.

Macrophage migration inhibitory factor and mannose-binding lectin-2 play important roles in the pathogenesis of several acute and chronic inflammatory/autoimmune disorders. The aim of the study was to investigate any possible association between migration inhibitory factor and mannose-binding lectin-2 gene polymorphisms and acute rheumatic fever in children.

A total of 38 unrelated children with acute rheumatic fever and 40 age- and sex-matched healthy controls were analysed for codon 54 A/B polymorphism in mannose-binding lectin-2 gene and −173 G/C polymorphism in migration inhibitory factor gene by using the polymerase chain reaction method.

Frequency of BB genotype of mannose-binding lectin-2 gene was higher in the patient group. Interestingly, children with acute rheumatic fever with AA genotype tended to have chorea compared with children with BB genotype. There was a statistically significant increase in frequency of the migration inhibitory factor −173 CC genotype in patients compared with the control subjects.

The present study is the first to investigate the mannose-binding lectin-2gene polymorphism in children with acute rheumatic fever. BB genotype of mannose-binding lectin-2 (codon 54) and CC genotype of migration inhibitory factor (−173) may have a role in the immunoinflammatory process of acute rheumatic fever.

To categorise records according to primary cardiac diagnosis in the United Kingdom Central Cardiac Audit Database in order to add this information to a risk adjustment model for paediatric cardiac surgery.

Codes from the International Paediatric Congenital Cardiac Code were mapped to recognisable primary cardiac diagnosis groupings, allocated using a hierarchy and less refined diagnosis groups, based on the number of functional ventricles and presence of aortic obstruction.

A National Clinical Audit Database.

Children undergoing cardiac interventions: the proportions for each diagnosis scheme are presented for 13,551 first patient surgical episodes since 2004.

In Scheme 1, the most prevalent diagnoses nationally were ventricular septal defect (13%), patent ductus arteriosus (10.4%), and tetralogy of Fallot (9.5%). In Scheme 2, the prevalence of a biventricular heart without aortic obstruction was 64.2% and with aortic obstruction was 14.1%; the prevalence of a functionally univentricular heart without aortic obstruction was 4.3% and with aortic obstruction was 4.7%; the prevalence of unknown (ambiguous) number of ventricles was 8.4%; and the prevalence of acquired heart disease only was 2.2%. Diagnostic groups added to procedural information: of the 17% of all operations classed as “not a specific procedure”, 97.1% had a diagnosis identified in Scheme 1 and 97.2% in Scheme 2.

Diagnostic information adds to surgical procedural data when the complexity of case mix is analysed in a national database. These diagnostic categorisation schemes may be used for future investigation of the frequency of conditions and evaluation of long-term outcome over a series of procedures.

On recognising poor growth following neonatal palliation with a systemic-to-pulmonary shunt, we sought to determine how patient- and procedure-related factors impact growth, paying attention to the role of the primary cardiologist in this process.

In a retrospective review, neonates (133 patients) receiving modified systemic-to-pulmonary artery shunts from 2002 to 2009 were studied and outpatient visits were reviewed. Patients with single- and two-ventricle circulations after shunt takedown were compared using weight-for-age z-score.

Single-ventricle patients had a higher weight-for-age z-score at neonatal surgery than two-ventricle patients (−0.4 ± 1.0 compared with −1.2 ± 0.9, with p < 0.001), but they had a greater drop in the weight-for-age z-score to the first outpatient visit (−1.1 ± 0.7 compared with −0.8 ± 0.7, with p = 0.02). After the first outpatient visit, the weight-for-age z-score was not significantly different between single-ventricle and two-ventricle patients. From multivariate analysis, a lower number of nutritional interventions by cardiologists was significantly associated with poor growth (p = 0.03). Poor growth was not associated with race, use of feeding tube, exclusive formula use, or proximity to surgical centre.

The significant drop in the weight-for-age z-score from neonatal surgery to first outpatient visit suggests that these patients may receive inadequate nutrition. The poorest performers received the least number of outpatient changes to their diet. This finding underscores the critical role of the primary cardiologist in optimising weight gain through adjustments in nutrition.

The objectives of this study were to compare behaviour problems and competencies, at home and school, in 7-year-old children with congenital heart disease with a sibling control group, to examine the prospective determinants of outcome from infancy, and to explore whether any gains were maintained in our sub-group of children who had participated in a previous trial of psychological interventions in infancy.

A total of 40 children who had undergone surgery to correct or palliate a significant congenital heart defect in infancy were compared (Child Behavior Checklist) with a nearest-age sibling control group (18 participants). Comparisons were made between sub-groups of children and families who had and had not participated in an early intervention trial.

Problems with attention, thought and social problems, and limitations in activity and school competencies, were found in comparison with siblings. Teacher reports were consistent with parents, although problems were of a lower magnitude. Disease, surgical, and neurodevelopmental functioning in infancy were related to competence outcomes but not behaviour problems. The latter were mediated by family and maternal mental health profiles from infancy. Limited, but encouraging, gains were maintained in the sub-group that had participated in the early intervention programme.

The present study is strengthened by its longitudinal design, use of teacher informants, and sibling control group. The patterns of problems and limitations discerned, and differential determinants thereof, have clear implications for interventions. We consider these in the light of our previously reported intervention trial with this sample and current outcomes at the 7-year follow-up.

Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. So far, the presence of endothelial dysfunction in patients with no coronary lesions has not been demonstrated. Peripheral arterial tonometry (Endo-PAT) measures the microvascular function in response to local ischaemia and has been validated in adult population, but its use in children is scarce.

To evaluate endothelial dysfunction in children as a long-term complication after Kawasaki disease using Endo-PAT.

We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed for >5 years, with no coronary lesions, or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically accessed. Endo-PAT was performed to determine reactive hyperaemia index and augmentation index.

A total of 35 individuals (21 males, age 21 ± 6 years) were evaluated (group 1: 19; controls: 16). Kawasaki disease patients presented significant lower reactive hyperaemia index (1.68 ± 0.49 versus 2.31 ± 0.53; p = 0.001). Augmentation index was similar in both groups (−10 ± 7 versus −11 ± 5; p > 0.005). Most patients with Kawasaki disease disclosed endothelial dysfunction (68%) compared with only 12% in controls.

Endo-PAT is feasible and reproducible in the child population. Endothelial dysfunction is a frequent long-term complication in patients after Kawasaki disease with normal appearing coronary arteries. However, these results need validation in a larger population.

It is unclear how autografts grow and dilate after the Ross operation in children. We analysed autograft growth and dilatation in children who underwent the Ross operation and examined the relationship of these factors to autograft failure.

From our institutional database, we retrospectively identified 33 children who underwent the Ross operation without aortic root reinforcement (mean age 9.9 years) and had normal body measurements and echocardiographic data throughout follow-up.

Autograft insufficiency developed in 10 patients 5.1 years after the Ross operation. The average Z score at the development of autograft insufficiency was −0.1 (range from −2.0 to 6.1). The proportions of patients who remained free of autograft insufficiency at 5 and 10 years were 87.2% and 55.7%, respectively. A consistent trend in the time course of Z score was not found in any age group studied.

Autograft growth and dilation after the Ross operation varied widely among patients, and the incidence of autograft insufficiency was independent of annulus size.

Patient satisfaction with care has received little attention within the field of congenital heart disease. Our objective was to examine patient satisfaction with the care received when undergoing open-heart surgery in order to identify the best and worst aspects of peri-operative care. Moreover, we examined whether having contact with a specialised nurse in addition to usual care is associated with higher patient satisfaction levels.

Patient satisfaction was measured by the Satisfaction with Hospital Care Questionnaire, evaluating nine aspects of care by answering individual items and giving overall grades. A top 10 of the best and worst items was selected. Linear regression analyses were used to examine the relationship between having contact with a specialised nurse and patient satisfaction (9 grades), independent of patient characteristics – sex, age, educational level, and health status.

Data were available for 75 patients. Grades ranged from 6.74 for “discharge and after care” to 8.18 for “medical care”. In all, 21% of patients were dissatisfied with the clarity of the information about lifestyle adjustments given by the surgeon. However, patients who had contact with a specialised nurse were more satisfied with the provided information (B-coefficient is 0.497, p-value is 0.038), independent of patient characteristics.

Patients were satisfied with the received care, although there is room for improvement, especially in discharge and after care and the clarity of the information provided by the surgeon. This gap in care can be compensated for by specialised nurses, as patients who were counselled by a specialised nurse were more satisfied with the provided information.

Necrotising enterocolitis is a rare, though catastrophic complication that may occur in term newborns with congenital heart disease. There is considerable controversy regarding the factors that lead to necrotising enterocolitis in this population. We sought to determine the incidence of necrotising enterocolitis among term and near-term newborns with congenital heart disease, focusing on the relationship of enteral feeding to this complication.

In this retrospective study, we identified the incidence of necrotising enterocolitis among 1551 newborns admitted to our cardiac intensive care unit between July 1, 2002 and July 1, 2010. In order to understand the impact of enteral feeding upon the development of necrotising enterocolitis, we undertook a nested 2:1 matched case–control analysis to compare feeding patterns in an age- and lesion-matched control population.

Necrotising enterocolitis developed in 45 term or near-term infants (3%). The majority of these cases, 27 (60%), occurred in the post-operative period after the introduction of enteral feeds. This subgroup was used for matched analysis. There were no differences in enteral feeding patterns among the patients who developed necrotising enterocolitis and their matched controls. The overall mortality rate for patients who developed necrotising enterocolitis was 24.4% (11 out of 45).

Despite numerous advances in the care of infants with congenital heart disease, necrotising enterocolitis remains a significant source of morbidity and mortality. In these infants, there is no clear relationship between enteral feeding patterns and the development of necrotising enterocolitis in the post-operative period. The benefits of graduated feeding advancements to avoid the development of necrotising enterocolitis remain unproven.

To describe the epidemiology of chromosomal and non-chromosomal cases of atrioventricular septal defects in Europe.

Data were obtained from EUROCAT, a European network of population-based registries collecting data on congenital anomalies. Data from 13 registries for the period 2000–2008 were included.

There was a total of 993 cases of atrioventricular septal defects, with a total prevalence of 5.3 per 10,000 births (95% confidence interval 4.1 to 6.5). Of the total cases, 250 were isolated cardiac lesions, 583 were chromosomal cases, 79 had multiple anomalies, 58 had heterotaxia sequence, and 23 had a monogenic syndrome. The total prevalence of chromosomal cases was 3.1 per 10,000 (95% confidence interval 1.9 to 4.3), with a large variation between registers. Of the 993 cases, 639 cases were live births, 45 were stillbirths, and 309 were terminations of pregnancy owing to foetal anomaly. Among the groups, additional associated cardiac anomalies were most frequent in heterotaxia cases (38%) and least frequent in chromosomal cases (8%). Coarctation of the aorta was the most common associated cardiac defect. The 1-week survival rate for live births was 94%.

Of all cases, three-quarters were associated with other anomalies, both chromosomal and non-chromosomal. For infants with atrioventricular septal defects and no chromosomal anomalies, cardiac defects were often more complex compared with infants with atrioventricular septal defects and a chromosomal anomaly. Clinical outcomes for atrioventricular septal defects varied between regions. The proportion of termination of pregnancy for foetal anomaly was higher for cases with multiple anomalies, chromosomal anomalies, and heterotaxia sequence.

Marfan syndrome causes aortic dilation leading to dissection and death. This systematic review examined the use of beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers in the management of aortic dilation in this disease.

We searched four databases – Medline, EMBASE, Web of Science, and The Cochrane Central Register of Controlled Trials – two conference proceedings, references of retrieved articles, and a web-based trial registry. The primary outcome was mortality. The secondary outcomes were aortic dissection, need for elective surgical repair, change in aortic dilation, and adverse events. Two reviewers selected studies, abstracted data, and assessed study quality. Meta-analyses were not performed because of study heterogeneity.

A total of 18 studies were included – 12 completed and six in progress. Of the completed studies, three before-and-after treatment, one prospective cohort, three retrospective cohorts, and two randomised control trials examined beta-blockers; one randomised and one non-randomised trial examined angiotensin-converting enzyme inhibitors; and one retrospective cohort study examined angiotensin II receptor blockers. Studies in progress are all randomised trials. Mortality was not impacted by drug therapy, although studies were underpowered with respect to this outcome. All drug classes were associated with a decrease in the rate of aortic dilation (angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers >beta-blockers); none had an impact on other secondary outcomes.

On the basis of existing evidence, beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers slow the progression of aortic dilation in Marfan syndrome. Angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers may have more effect than beta-blockers; however, more methodologically rigorous studies currently in progress are needed to evaluate the impact of drug therapy on clinical outcomes.

Percutaneous transcatheter occlusion has benefited thousands of patients suffering from patent foramen ovale and atrial septal defect. However, no general agreement has been reached on the superiority among occluders. Thus, a meta-analysis between the two most commonly adopted types of occluders was conducted.

The literature review has identified relevant studies up to May, 2011 in the databases of PubMed, EMBASE, the Cochrane Central Register of Controlled Trials, and World Health Organization clinical trials registry centre. Meta-analysis was performed in a fixed/random effects model using Revman 5.1.1. Information on complications and outcomes was extracted.

Analysis from included studies reports an outcome in favour of the Amplatzer. The Amplatzer has proven its superiority in efficacy with a significantly lower risk of early (95% confidence interval = 0.09–0.34) and long-term (95% confidence interval = 0.14–0.97) residual shunt rate for atrial septal defect occlusion, although no significant difference in performance has been reported for patent foramen ovale. In addition, the Amplatzer has also remarkably reduced the risk of embolisation by the device (95% confidence interval = 0.07–0.45) for atrial septal defect and new-set atrial fibrillation (95% confidence interval = 0.18–0.48) for patent foramen ovale. On evaluation of recurrent thrombotic events, it was found that the Amplatzer greatly lowered the rate of thrombus formation on the device (95% confidence interval = 0.02–0.21) for patent foramen ovale; however, no statistical difference was found on atrial septal defect evaluation. However, the result indicated no statistically significant difference between the two kinds of occluders in stroke and transient ischaemic attack of patent foramen ovale.

The meta-analysis has proven the Amplatzer to be the superior occluder, serving better prognosis with more fluent procedure and less complications.

The purpose of this study was to evaluate the cardiac functions and age-related changes of these functions in full-term small for gestational age infants during the first 3 months of life.

Cardiac functions of 20 term small for gestational age and 20 term appropriate for gestational age infants were studied using conventional and tissue Doppler echocardiography on postnatal day 5 and at 1 and 3 months.

Ventricular diameters, ventricular wall thicknesses, and left ventricular mass significantly increased with age in both groups. All these parameters were significantly lower in small for gestational age infants. No differences were detected by conventional echocardiography between the groups in systolic and diastolic functions. Systolic velocity, early diastolic and atrial contraction velocities, and the ratio between early diastolic and atrial contraction velocities determined by tissue Doppler echocardiography increased with age. Systolic velocity was lower in the small for gestational age babies for all myocardial regions on the 5th day. Peak early diastolic velocity was decreased in the small for gestational age babies at the first and second evaluations for all myocardial regions. The ratio between early diastolic and atrial contraction velocities was significantly lower in the small for gestational age babies for the interventricular septum and right ventricle. Significant positive correlations were detected between the Ponderal index and systolic and early diastolic velocities.

The present findings suggest that systolic and diastolic function indices including tissue Doppler measures are significantly affected in small for gestational age babies during the first 3 months of life.