Objective The main objective of this study was to ascertain if a structured intervention programme can improve the biophysical health of young children with congenital heart disease (CHD). The primary end point was an increase in measureable physical activity levels following the intervention.Methods Patients aged 5–10 years with CHD were identified and invited to participate. Participants completed a baseline biophysical assessment, including a formal exercise stress test and daily activity monitoring using an accelerometer. Following randomisation, the intervention group attended a 1 day education session and received an individual written exercise plan to be continued over the 4-month intervention period. The control group continued with their usual level of care. After 4 months, all participants were reassessed in the same manner as at baseline.Results One hundred and sixty-three participants (mean age 8.4 years) were recruited, 100 of whom were male (61.3%). At baseline, the majority of the children were active with good exercise tolerance. The cyanotic palliated subgroup participants, however, were found to have lower levels of daily activity and significantly limited peak exercise performance compared with the other subgroups. One hundred and fifty-two participants (93.2%) attended for reassessment. Following the intervention, there was a significant improvement in peak exercise capacity in the intervention group. There was also a trend towards increased daily activity levels.Conclusion Overall physical activity levels are well preserved in the majority of young children with CHD. A structured intervention programme significantly increased peak exercise capacity and improved attitudes towards positive lifestyle changes.

We investigated the role of maternal environmental factors in the aetiology of congenital heart disease (CHD). A population-based case-control study (242 CHD cases, 966 controls) was conducted using an iPad questionnaire for mother with linkage to maternity and first trimester prescription records. Risk of CHD was associated with low maternal education (OR adjusted for confounders 1.59; 95% confidence interval [CI], 1.02-2.49), pregestational diabetes (OR 4.04; 95% CI 1.00-16.28), self-reported maternal clotting disorders (adjOR 8.55, 95%CI 1.51-48.44), prescriptions for the anticlotting medication enoxaparin (adjOR 3.22, 95%CI 1.01-10.22) and self-reported vaginal infections (adjOR 1.69, 95%CI 1.01-2.80). There was no strong support for the hypothesis that periconceptional folic acid supplements have a protective effect, but there was a protective effect of frequent consumption of folate rich fruits (adjOR 0.64, 95%CI 0.47-0.89). Compared to the most common pre-pregnancy dietary pattern, CHD risk was associated with a poor diet low in fruit and vegetables (adjOR 1.56, 95%CI 1.05-2.34). Mothers of cases reported more pregnancy related stress (adjOR 1.69; 95% CI 1.22-2.34) and multiple stressors (adjOR 1.94, 95%CI 0.83-4.53). We found no supportive evidence for CHD risk being associated with obesity, smoking, depression or antidepressant use in this population. Our findings add to the previous evidence base to show potential for public health approaches to help prevent CHD in future by modifying environmental factors. Independent confirmation should be sought regarding elevated CHD risk associated with maternal blood clotting disorders and their treatment, since we are the first to report this.

OBJECTIVE:A significant body of patients who have undergone Mustard or Senning procedure require lifelong follow up. In this retrospective review, we examined the cohort of such patients currently attending our center.DESIGN:Patients who had undergone either Mustard or Senning procedure were identified. We retrospectively reviewed medical records, recorded demographic information and data regarding the clinical state, NHYA class, cardiopulmonary exercise testing, NT-proBNP measurement, and recent cardiac MRI findings.RESULTS:Forty-six patients were identified, the mean age was 32.2 years (± 6.1 years), 67.4% were male. Thirty-two patients (69.6%) had undergone a Senning procedure. The median length of the follow-up was 32 years. Thirty-two patients (69.6%) were NHYA class 1. The mean VO2max achieved was 24.2 ± 5.8 mL/min/kg. The mean NT-proBNP was 266.4 pg/mL (± 259.9 pg/mL). The mean right ventricular end-diastolic volume (RVEDV) was 212.4 mL ± 73.1 mL (indexed 114.2 mL/m2  ± 34.4 mL/m2 ). The mean right ventricular ejection fraction (RVEF) was 53.7% ± 7.9%. The mean left ventricular end-diastolic volume (LVEDV) was 161.5 mL ± 73.7 mL (indexed 87.8 mL/m2  ± 41.1 mL/m2 ). The mean left ventricular ejection fraction (LVEF) was 59.8% ± 5.7%. There was a significant correlation between right ventricular (RV) size on MRI and NT-proBNP level.CONCLUSIONS:We present a relatively well cohort of patients with overall favorable long-term outcome. The majority of patients are NHYA class 1 and the systemic right ventricular function appears to be well preserved as assessed by MRI. The exercise tolerance is reduced, with the majority of patients achieving around 60% of the estimated VO2max . Regular specialist follow-up and assessment with advanced imaging at regular intervals remain important for this group.

Background The Northern Ireland (NI) Baby Hearts study aimed to investigate risk factors for congenital heart defects (CHD), and to investigate the health behaviours of a representative sample of NI pregnant women. Methods We performed a case-control study with hybrid data collection methods, including self-administered iPad questionnaire or postal questionnaire, information held in maternity records and linkage to prescription records. Cases (n=286) were recruited following diagnosis prenatally or postnatally, controls (n=966) were recruited during recruitment months in each maternity unit at 18-20 weeks gestation. Findings Refusal rates for questionnaire completion were low (7-8%). Among those recruited, consent for access and linkage to medical records was high (98%). Recruitment of both cases and controls was closely representative of the NI population in terms of age, area of residence and deprivation. There was considerable discordance between self-report questionnaires, maternity records and prescription records regarding medications taken in the first trimester, and between self-report questionnaires and maternity records regarding behaviours such as preconceptional folic acid, pregnancy planning, and smoking. However, there were no differences between cases and controls that would indicate recall bias. Conclusions Our results suggest that hybrid data collection approaches are a useful way forward for aetiological studies.

In Northern Ireland, approximately 200 babies per year are born with congenital heart disease. Although the incidence of congenital heart disease and other pediatric cardiac pathology remains largely static, there is anecdotal evidence to suggest that the number of referrals for specialist assessment continues to increase. The general impression is that nonspecialists are increasingly reluctant to provide reassurance or take responsibility for patients presenting with symptoms of possible cardiac etiology, and such increased demand has obvious implications for allocation of limited resources. We aimed to determine the volume and range of outpatient referrals to tertiary pediatric cardiology services.

A Cost Analysis of a Remote Home Support Programme for Infants with Major Congenital Heart Disease: Evidence from a Randomized Controlled Trial Objective: Paediatric cardiology is a highly centralised subspecialty with patients living often living large distances from the tertiary care centre. A tele homecare programme for infants with major congenital heart disease (CHD) was devised to support patients and families during the stressful and vulnerable period following discharge from hospital. This study aimed to describe the costs and potential savings of a telemedicine home support programme for infants with major congenital heart disease (CHD). Methods: A randomized controlled trial was performed at a UK tertiary paediatric cardiology centre. Infants with major CHD discharged home were randomized to one of three groups: Two intervention groups (Video support and Telephone support) and one control group (standard care). Patients in the two intervention groups received regular, standardised remote consultations. Video support initially provided by ISDN lines and later by a home broadband (IP) connection. The main outcome measure was a comparison of total cost to NHS of participants including cost of study interventions and health service utilisation.

Aim The aim of this study is to evaluate consultant general paediatricians’ opinions of a UK paediatric telecardiology service. Methods A structured questionnaire was developed and sent to all consultant paediatricians working in a district general hospital in N orthern I reland. Results Paediatricians ( n = 35) regarded the regional paediatric telecardiology service as very useful and of good value for money. Paediatricans in hospitals without access to telecardiology expressed a desire to join the network (86%, 12/14). More frequent use of the paediatric telecardiology service was associated with increased confidence in performing echocardiography and using the telemedicine equipment and a special interest in neonatology. The vast majority of paediatricians (32/35, 91%) believed that there should be a shared clinical responsibility for the patient following a teleconsultation. A total of 33/35 (94%) stated that the telephone costs of the consultation should be paid by the paediatrician but that the professional time of the cardiologist should be paid by the tertiary centre (29/35, 83%). Conclusions Paediatricians have consistently positive experiences of a regional paediatric telecardiology service. They believe that clinical responsibility is shared, and there should not be any professional fee for telemedicine activities.

In 2003, the paediatric cardiology department at the Royal Belfast Hospital for Sick Children (RBHSC) piloted home support for infants with major congenital heart disease based on videoconference consultations. The videoconferencing used an ISDN 6 link (3 ISDN lines aggregated to provide a bandwidth of 384 kbit/s) installed in each family’s home. Following the success of this pilot trial, a randomised controlled trial of the home support programme was initiated in 2005 using ISDN 6. During the 2000s, Internet provision in the community accelerated, both in terms of availability and increasing bandwidths. We therefore began pilot tests using an ADSL connection, ultimately switching from ISDN to ADSL transmission for the telecardiology work. The present study compared the quality of remote consultations achieved with the two modalities.

OBJECTIVE To report on a randomized controlled trial of psychological interventions to promote adjustment in children with congenital heart disease and their families. METHOD Following baseline assessment, 90 children (aged 4-5 years) and their families were randomly assigned to an Intervention or Control group before entering school. 68 (76%) were retained at 10-month follow-up. RESULTS Gains were observed on measures of maternal mental health and family functioning. Although no differences were found on measures of child behavior at home or school, children in the intervention group were perceived as "sick" less often by their mother and missed fewer days from school. A regression model, using baseline measures as predictors, highlighted the importance of maternal mental health, worry and child neurodevelopmental functioning for child behavioral outcomes almost a year later. CONCLUSIONS The intervention promoted clinically significant gains for the child and family. The program is of generalizable significance.

Objectives To assess the sustainability, clinical utility and acceptability to clinicians and parents of a tele-homecare programme for infants with major congenital heart disease (CHD), and to evaluate the impact on healthcare resource use.Design Randomised control trial.Setting UK tertiary congenital cardiac centre.Participants 83 infants with major CHD.Intervention Participants were randomised to one of three groups: video-conferencing support (n=35), telephone support (n=24) and a control group (n=24). Patients in the two intervention groups received regular, standardised remote consultations. Video-conferences (VCs) were facilitated by Integrated Systems Digital Network lines and replaced by home broadband connections later in the study.Main outcome measures Healthcare resource use, utilisation including hospitalisation, clinicians' opinions on utility and quality of interventions, parental opinions on quality of interventions.Results Clinicians were more confident making medical decisions following VCs compared with telephone consultations (p=0.01). Both VC and telephone support were very well received, but parents expressed significantly higher levels of satisfaction with VC support (p=0.001). Healthcare resource use was 37% lower in the video-conferencing group compared with both telephone support and control groups (p<0.001), as was the risk of hospitalisation (p=0.006). Direct health service costs were significantly lower in the video-conferencing group (p<0.05).Conclusions A tele-medicine home support programme for families of infants with major CHD is feasible, sustainable and effective. Home support with video-conferencing is superior to telephone consultations. Parents are highly satisfied with tele-homecare. Tele-homecare significantly reduces health service utilisation and may reduce health service costs.

We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ascending aortic aneurysm, developmental delay, and with poorly visualized coronary arteries during angiography, the diagnosis of supravalvular aortic stenosis or Williams syndrome should be considered.

Objectives To determine the accuracy of remote diagnosis of congenital heart disease (CHD) by real-time transmission of echocardiographic images via integrated services digital network (ISDN) lines, to assess the impact on patient management and examine cost implications.Design Prospective comparison of echocardiograms on infants with suspected significant CHD performed as follows: (1) hands-on evaluation and echocardiogram by a paediatrician at a district general hospital (DGH) followed by (2) transmission of the echocardiogram via ISDN 6 with guidance from a paediatric cardiologist and finally (3) hands-on evaluation and echocardiogram by a paediatric cardiologist. The economic analysis compares the cost of patient care associated with the telemedicine service with a hypothetical control group.Setting Neonatal units of three DGH and a UK regional paediatric cardiology unit.Results Echocardiograms were transmitted on 124 infants. In five cases scans were inadequate for diagnosis. Of the remaining 119 tele-echocardiograms, a follow-up echocardiogram was performed on 109/119 (92%). Major CHD was diagnosed in 39/109 infants (36%) and minor CHD in 45 (41%). The tele-echo diagnosis was accurate in 96% of cases (kappa=0.89). Unnecessary transfer to the regional unit was avoided in 93/124 patients (75%). Despite relatively high implementation costs, telemedicine care was substantially cheaper than standard care. Each DGH potentially saved money by utilising the telemedicine service (mean saving: 728 pound/patient).Conclusions CHD is accurately diagnosed by real-time transmission of echocardiograms performed by paediatricians under live guidance and interpretation by a paediatric cardiologist. Remote diagnosis and exclusion of CHD affects patient management and may be cost saving.

Interstitial deletions of chromosome 3q22.3–25.1 are very rare with only five previous reports of deletions in this region [1], [2], [4], [7], [9]. We describe a case of a female infant with a de novo deletion. Dysmorphic features and congenital heart disease led to a clinical genetics assessment on day 1 of life. Chromosomal analysis showed an interstitial deletion with a female karyotype 46,XX,del (3)(q23q25.1)dn. Subsequent array CGH demonstrated the breakpoints as 3q22.3q25.1. This is the first documented association with a truncus arteriosus. We identify an emerging clinical phenotype of microphthalmia, microcephaly, congenital heart disease, slow feeding, skeletal abnormalities, with an abnormal facies and developmental delay. Array CGH demonstrated that the FOXL2 gene responsible for BPES was not deleted in this patient.

This study examined mental health and coping styles in both mothers and fathers of infants born with a severe congenital heart defect. Factors associated with mental health outcomes were elucidated. Parents of 70 infants, recently born with a severe congenital heart defect, completed questionnaires which examined psychological functioning and coping strategies. Disease, surgical and psychosocial factors were examined for their significance in predicting psychological functioning. Findings indicated elevated levels of clinically significant psychological distress in mothers, compared to fathers, and differences between parents in coping styles. Regression analyses suggested that the extent of distress in both parents was not primarily predicted by illness or demographic factors. Rather, certain coping styles, knowledge, subjective worry and family functioning emerged as significant predictive variables. Implications for early intervention are discussed.

Objective. To determine the antenatal detection rate in Northern Ireland (NI) for major congenital heart disease (CHD) between 1st January 2002 and 31st December 2006. To compare characteristics and prognosis of antenatal versus postnatal groups. Methods. Data were obtained from fetal, neonatal and post-mortem records. Variables recorded: antenatal diagnosis, karyotype, referral indication, type of defect and neonatal outcome. Results. Twenty-seven per cent (73/272) of patients with major CHD were diagnosed antenatally. Forty-one per cent (30/73) of these died before 28 days. Eighty-two per cent (60/73) of the antenatal diagnosis group were referred with suspected cardiac abnormality on obstetric screening. There were more lethal trisomies amongst the antenatal diagnosis group (15%, 11/73) than the postnatal diagnosis group (2%, 4/191) p0.001. Significantly more of the antenatal group had functionally univentricular hearts than the postnatal/post-mortem group (47%vs. 7%). Eighty-nine per cent (65/73) of defects diagnosed antenatally were 'four chamber view' defects. 11% (8/73) were 'outflow tract view' defects. Conclusions. Antenatal detection in NI is around the European average. Those with an antenatal diagnosis have more complex CHD, higher risk of karyotype abnormality and poorer neonatal outcomes. Screening is responsible for the majority of antenatal diagnoses of major CHD. A regional training programme for obstetric sonographers has now been delivered.

A term newborn with a provisional diagnosis of persistent pulmonary hypertension of the newborn was admitted to our Intensive Care Unit, with an impending cardio-respiratory failure. The child was intubated, ventilated and started on inhaled nitric oxide. A right internal jugular vein was cannulated for central venous pressure monitoring/possible inotropic use. As the colour of the blood was bright (blood gases done showed an arterial picture), a repeat echocardiography was performed to rule out the presence of anomalous pulmonary venous drainage into superior vena cava. Repeat echocardiography did not reveal any abnormality of the pulmonary venous drainage but confirmed the presence of the cannula in the superior vena cava. Incidentally when the echo probe was placed on the anterior fontanel, a large midline venous structure was seen. A head ultrasound showed the same. Magnetic resonance imaging confirmed the vein of Galen malformation.

Summary Over an eight-year period, echocardiograms were transmitted by ISDN at 384 kbit/s for a total of 132 patients suspected of having congenital heart disease (CHD). Five transmitted scans were inadequate. Hands-on echocardiograms were performed subsequently on 116 of the remaining 127 cases (91%). Major CHD was diagnosed in 42 of the 116 infants (36%) and minor CHD in 49 (42%). The telemedicine diagnosis was accurate in 97% of the cases (kappa = 0.90). There were four diagnostic errors. Transfer to the regional unit was avoided in 95 patients (72%). The present study shows that high diagnostic accuracy is possible using a telemedicine link to transmit images obtained with the assistance of real-time guidance by a paediatric cardiologist. The results also demonstrate the importance of an expert interpreting the echocardiographic images, since the accuracy of diagnosis was considerably improved (the kappa coefficient increased from 0.14 to 0.90).

This is the second reported case of coarctation in a right aortic arch with an aberrant left brachiocephalic artery. In this patient, the right subclavian artery is aneurysmal, making this case unique. There is a pressure gradient of 34 mm Hg between ascending and descending aorta. Both the conventional and computed tomography angiographic images are presented. This is the first reported case to include imaging of this anatomy prior to surgery. It is also the first report of primary surgical management following a correct initial diagnosis.