We present a group of infants and children with pulmonary arterial sling and tracheal stenosis. In some of the patients, the anomalously located pulmonary artery had previously been reimplanted, but without simultaneous repair of the trachea.

From 1992 to 2007, we reimplanted the left pulmonary artery in 13 children with a pulmonary arterial sling. Their median age was 8 months, with a range from 1 to 72 months. We also performed tracheal resection with end-to-end anastomosis, or complex tracheal reconstructions. In 5 patients, the reoperation was indicated because of persistent tracheal stenosis not treated initially at first correction of the arterial sling. All patients presented with stridor and respiratory distress. Cardiac catheterization, bronchoscopy and multidetecting computer tomography angiography were performed in all cases prior to the operation. All operations were performed under cardiopulmonary bypass.

There was no operative or late mortality. The patients were extubated under bronchoscopic control. The mean period of intubation was 18 plus or minus 8 days, and the average follow-up was 8 plus or minus 4 years. The patients showed no signs of tracheal re-stenosis clinically or on bronchoscopy. The group of the patients under reoperations, however, required longer periods of intubation and hospitalization.

Our experience demonstrates that, in patients with a pulmonary arterial sling, any associated tracheal stenosis should be explored at the initial operation, since decompression of the trachea by reimplanting the anomalously located pulmonary artery fails to provide relief. The funnel trachea, if present, undergoes progressive stenosis, and will require surgical repair. The use of cardiopulmonary bypass permitted extensive mobilization of the tracheobronchial tree, and allowed us to perform a tension-free anastomotic reconstruction of the trachea.

In this study we sought to determine, first, whether maximal exercise capacity reflects ventricular function, and second, whether the age of the patient, and the age of completion of the Fontan circulation, influence ventricular function and exercise performance.

Cardiac magnetic resonance imaging and cardiopulmonary exercise testing were performed in 29 patients at a median time of 6.9 years after completion of the Fontan circulation. We divided the patients into 2 groups, the first 19 having their operation below the age of 18 years, and the second group, of 10 patients, having completion of the Fontan circulation when they were older than 18 years. Parameters for ventricular function and exercise were compared for both groups with controls.

Compared to controls, the younger patients had normal end-diastolic ventricular volumes, but significantly impaired ventricular function, lower maximal work load and consumption of oxygen. The older patients had greater end-diastolic ventricular volumes, and significantly poorer ventricular function than both the younger patients and the controls. Maximal work load and consumption of oxygen were significantly lower in the older patients than in the younger ones and the controls.

Patients with the Fontan circulation have an impaired systolic ventricular function, which correlates with maximal exercise capacity and uptake of oxygen. Those having completion of the Fontan circulation when younger than 18 years had significantly better ventricular function and exercise performance than those who had completion of the Fontan circulation at an older age. An early creation of the Fontan circulation may preserve cardiac function and exercise capacity.

Neonatal aortic coarctation presenting with multiorgan failure is a life threatening condition.

Our aim was to investigate whether emergency balloon dilation improved the prognosis of neonates with aortic coarctation who present with multiorgan failure.

We studied all neonates referred over a period of 6 years with aortic coarctation and left ventricular dysfunction, with or without multiorgan failure. During the first half of the period, from January, 2001 to December, 2003, patients were treated surgically after regression of the multiorgan failure. During the second half, from January, 2004, to January, 2007, patients not responding to medical management were referred for balloon dilation of the coarcted segment.

Among 113 and 181 neonates, respectively, treated during the 2 periods, 40 and 36 had left ventricular dysfunction (p less than 0.01), and 11 and 23 had multiorgan failure (p less than 0.01). Prior to 2004, 6 deaths occurred before surgery. After 2004, 3 out of 14 patients (21%) treated by balloon angioplasty died in consequence of the procedure.

During the period of the study, the global mortality of patients with left ventricular dysfunction diminished from 17.5 to 13.8%, this difference not being statistically significant. Mortality due to multiorgan failure, however, diminished from 54 to 13% (p less than 0.01). Multiorgan failure was reversed under medical treatment in 45% of patients, but in 87% under the regime of medical combined with interventional treatment (p less than 0.01).

To the best of our knowledge, this is the first series of neonates with aortic coarctation and multiorgan failure receiving a palliative treatment by balloon dilation. Although the prognosis of this condition remains severe, emergency balloon dilation can diminish mortality, providing a bridge to surgery in severely ill patients.

To provide an account of paediatric dilated cardiomyopathy as seen in a region of Oman, analysing the data from 32 consecutive children who received care in our unit between January, 1999, and August, 2007.

The patients, of whom 17 were male, were aged between 5 weeks and 8 years at presentation, with a median of 7 months. The disease was deemed to be myocarditis-induced in one-third, and idiopathic in half. Cardiac failure, seen in almost four-fifths, was the most frequent presenting feature. Correspondingly, the cardiothoracic ratios were increased, to a mean of 68% in 20 infants, and to 65% in 8 older children, and the left ventricular ejection fraction depressed, to a mean of 41%, in the 23 patients in whom it could be evaluated. Patients in cardiac failure received various combinations of diuretics, inotropes, and captopril. In addition, 6 received carvedilol, and 3 intravenous immunoglobulin. Death occurred in 2 patients shortly after admission, one left the hospital against medical advice, and the remaining 29 were followed-up for a mean of 37 months, with a range from 2 to 102 months. Recovery was noted in one-third of the patients, with one-quarter showing improvement but still requiring anti-failure medications. Slightly over two-fifths died. Of those with the idiopathic form, 40% died, with death occurring in 46% of those deemed to have myocarditis-induced disease, in half of those presenting in infancy, and in 57% of those who presented in cardiac failure.

Dilated cardiomyopathy was often severe in our patients, albeit that the cause was frequently uncertain, and the response to standard anti-failure treatment unsatisfactory. Efforts should be intensified for unravelling its aetiology and improving medical treatment.

To search for a genetic basis in a family with autosomal dominantly inherited atrial septal defect in combination with increasing conduction anomalies.

We searched for mutations in the NKX2.5 gene by sequencing of desoxyribonucleic acid in a previously investigated family.

All family members were included if they, after informed consent, had decided to participate in the genetic testing. A blood sample was sent from local doctors for analysis of potential mutations. Patients with cardiac anomalies were examined in our hospital. For those family members without cardiac anomalies, we relied on local information.

We identified the mutation Q149X in the NKX2.5 gene on chromosome 5q35 in all patients with atrial septal defect and disturbances of atrioventricular conduction. No family member without an atrial septal defect possessed the mutation, including a member with transposed arterial trunks.

We have identified a mutation in the NKX2.5 gene responsible for autosomal dominantly inherited atrial septal defect in the oval fossa combined with disturbances of atrioventricular conduction in 7 patients spanning 4 generations.

Children who undergo surgery for complex congenital cardiac disease are reported to be at increased thrombotic risk. Our aim was to evaluate long-term changes in the haemostatic system after surgery, to compare markers of activated coagulation in children having surgery with those in a healthy control population, and to relate them to adverse clinical outcome.

We studied, prior to surgery, the coagulation profiles of a cohort of 28 children admitted for a modified Fontan operation, studying them again after a period of mean follow-up of 9.6 years. Median age at the time of final surgery was 18.5 months, with a range from 12 to 76 months. We compared generation of thrombin, and levels of the activated protein C-protein C inhibitor complex to controls at follow-up. Thrombophilia and clinical outcome were evaluated.

At long-term follow-up, a lower incidence of procoagulant abnormalities was observed compared to that before surgery. Of 27 patients, 3 (11%), but none of 45 controls, had levels of activated protein C-protein C inhibitor complex above the reference range. There were no significant differences in generation of thrombin between patients and controls. No thrombotic events were recorded, and the patients were generally in good clinical condition.

Overall, haemostasis appeared to be in balance, and less prothrombotic, after surgery. A subset of the cohort did show indications of activated coagulation. The current therapeutic approach seems to be sufficient to protect the majority of patient. New tests of global coagulation, nonetheless, may be helpful in improving identification of individuals at increased thrombotic risk.

To describe the pattern of prescribing for palivizumab in the Glasgow area over the period 1999 through 2007, and to compare recent prescribing to the current recommendations by the Joint Committee on Vaccination and Immunisation of the United Kingdom Department of Health. Our secondary objective was to describe admissions to paediatric intensive care in patients with respiratory syncytial virus receiving palivizumab.

Tertiary children’s hospital out-patient immunisation clinic and paediatric intensive care unit.

Prospective analysis of prescribing and admissions data for the period 1999 through 2007.

Number of prescriptions and admissions to the paediatric intensive care unit.

The number of children receiving palivizumab annually initially rose more than 5-fold, from 17 in the season of 1999 and 2000 versus 115 in 2004 and 2005, although it has declined in the past 2 years, to 63 in 2006 and 2007, following publication of the recommendations of the Joint Committee on Vaccination and Immunisation established by the United Kingdom Department of Health. There has been no significant change in demographics of patients during this period. Prior to publication of these recommendations, 35 of 44 (80%) patients with congenitally malformed hearts who received palivizumab in the season of 2005 and 2006 deviated from the current recommendations, compared to 5 of 51 (10%) who received palivizumab for non-cardiac indications. No patients who received palivizumab required admission to the paediatric intensive care unit with proven respiratory syncytial virus infection over the 8 year period.

The number of children receiving palivizumab initially increased significantly, although it has now fallen following implementation of national recommendations. Much prescribing, particularly for children with congenitally malformed hearts, did not fulfil current recommendations. The absence of admissions to paediatric intensive care reflects the success of targeted immunisation in our population.

Familial hypercholesterolemia is a monogenic, autosomal dominant disorder caused by mutations in the LDL receptor gene. Familial homozygous hypercholesterolemia results when both the alleles have the defective mutation. It is characterized by cutaneous and tendinous xanthomas, premature corneal arcing, and is associated with an increased risk of coronary arterial disease. It is also seriously underdiagnosed, resulting in delayed treatment.

We present a cross-sectional study of 5 patients with familial homozygous hypercholesterolemia who presented to the department of cardiology at Sri Jayadeva Institute of Cardiology, Bangalore, India. All of them underwent coronary angiography as part of the investigation of their angina.

All 5 patients were in 2nd or 3rd decade of life, 4 being male, and 4 presenting with effort angina, the other having unstable angina. All had multiple tendinous xanthomas. The majority had significant high grade coronary arterial stenosis. Coronary arterial bypass grafting was necessary in 3, with the others undergoing percutaneous insertion of coronary arterial stents.

Familial homozygous hypercholesterolemia is a potentially dangerous risk factor that can result in premature coronary arterial disease in children and young adults. This can result in severe morbidity and premature death in young individuals. We also emphasise the need to screen first-degree relatives and extended family members, this playing an important role in early detection and treatment. Despite recent advances in treatment using lipid lowering agents, the disease remains a significant challenge.