Intra-cardiac repair of congenital cardiac diseases in children with left–right shunt is often associated with acute elevation of pulmonary artery pressure following cardiopulmonary bypass. We studied the correlation between the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and pulmonary hypertension in children with congenital cardiac diseases.

A total of 80 children with congenital cardiac diseases at a median age of 3.8 years, ranged 0.1–36.2 years, and 136 controls were enrolled. Most patients presented with significant left-to-right shunt – pulmonary-to-systemic blood flow of 2.8, with a range from 0.6 to 7.5. In all, 40 out of 80 children showed pulmonary hypertension with mean pressure of 42, ranged 26–82, millimetres of mercury. Thirty-one out of 40 children underwent intra-cardiac repair and 15 out of 31 operated patients were found to have an acute elevation of pulmonary artery pressure after cardiopulmonary bypass. The Glu298Asp polymorphism was identified using polymerase chain reaction and restriction fragment length polymorphism. Both in patients and in controls, the genotype distribution corresponded to the Hardy–Weinberg equilibrium. The gene frequency for Glu298Glu, Glu298Asp and Asp298Asp was not different in the control group compared to the patients (Armitage trend test: p = 0.37). The endothelial nitric oxide synthase polymorphism was related to acute post-operative elevation of pulmonary artery pressure (genotypic frequency 53.3 versus 25%; Armitage trend test: p = 0.038). In addition, the allelic frequency of the Glu298Asp was related to post-operative pulmonary hypertension (Fischer’s exact test: p = 0.048). The positive predictive value was 71.43%.

Patients with left-to-right shunt are more likely to develop acute elevation of pulmonary artery pressure after cardiopulmonary bypass when presenting with the Glu298Asp polymorphism of the gene endothelial nitric oxide synthase. This could be used as a genetic marker for the predisposition for the development of pulmonary hypertension after intra-cardiac repair.

Patients with repaired tetralogy of Fallot may develop symptomatic and haemodynamic deterioration for many reasons such as arrhythmia, pulmonary regurgitation, and impairment in ventricular function. We describe a consecutive group of patients whose main clinical problem was atrial tachyarrhythmias.

To describe the clinical outcome of atrial tachyarrhythmias occurring late after surgical repair of tetralogy of Fallot; to define the circuits/foci responsible for these atrial tachyarrhythmias; to evaluate the outcome of computer-assisted mapping and catheter ablation in this patient group.

Consecutive patients with surgically repaired tetralogy of Fallot and atrial tachyarrhythmias, who underwent catheter ablation between January, 2001 and June, 2007, were identified retrospectively from case records. Computer-assisted mapping was performed in all using either EnSite® (St Jude Medical Inc.) arrhythmia mapping and intra-cardiac catheter guidance system or CARTO™ (Biosense Webster Inc.) electroanatomical mapping systems. Ten patients (four males) with a median age of 39 plus or minus 8 years were studied. The total number of atrial tachyarrhythmias identified was 22 (six macro-reentrant, 16 micro-reentrant/focal). In nine patients, catheter ablation led to improvement in arrhythmia episodes and/or symptoms during follow-up of 41 plus or minus 20 months. Following ablation(s), five patients required pacing for pre-existing conduction disease and five needed further surgery for haemodynamic indications. All patients remained on anti-arrhythmic drugs.

Patients with surgically repaired tetralogy of Fallot and atrial tachyarrhythmias typically have multiple arrhythmic circuits/foci arising from a scarred right atrium. Catheter ablation reduces arrhythmia frequency and improves symptoms. However, hybrid management is often required, comprising drugs, pacing, and further surgery tailored to the individual.

Successful paediatric cardiac surgery and cardiology treatment has resulted in an increase in the use of surgery as a method of treatment of congenital cardiac disease in adult population. However, late detection and lower socio-economic condition in developing countries might change patients’ characteristics by the time they come for treatment. This study aimed to elaborate the long-term surgical results of adult congenital cardiac disease in Indonesia as a developing country.

We reviewed retrospectively all adult congenital cardiac disease patients with a mean age of 28 years plus or minus 9.5 years, who underwent surgery at National Cardiovascular Center. The types of procedures used were corrective in 338 patients (89.2%), palliative in 10 patients (2.6%), and re-operations in 31 patients (8.2%). The overall hospital mortality rate was 2.6% but as high as 20% with palliative surgery. Post-operative New York Heart Association class III–IV is the only independent predictor of death at 60 months (hazard ratio 61.48, 95% confidence interval 9.41–401.69, p<0.001). The survival rates were 96.3% and 95% for overall and non-atrial septal defect in patients at 60 months, which was highest in corrective procedures (97.6%). The percentage of patients free of re-operation at 5 years’ follow-up was 85.4% and 42.7% at 10 years.

In developing countries, surgical treatment of adult congenital cardiac disease is effective and safe, with an overall survival rate of 96.3% at 60 months. Due to high mortality rate, palliative surgery of a non-atrial septal defect patient is recommended to be discontinued. The independent predictor of mortality was post-operative New York Heart Association functional class III–IV.

To assess if flow-sensitive four-dimensional velocity-encoded cine magnetic resonance imaging adds value in diagnosing patients with suspected partial anomalous pulmonary venous drainage.

In six patients with echocardiographically suspected partial anomalous pulmonary venous drainage, anatomy was evaluated using standard magnetic resonance imaging including angiography. Functional analysis included shunt calculations from flow measurements. We used four-dimensional velocity-encoded cine magnetic resonance imaging for visualisation of maldraining pulmonary veins and quantification of flow via the maldraining veins and interatrial communications, if present.

In all patients, the diagnosis of partial anomalous pulmonary venous drainage was confirmed by standard magnetic resonance imaging. Shunt volumes ranged from 1.4:1 to 4.7:1. Drainage sites were the superior caval vein (n = 5) or the vertical vein (n = 1). Multiple maldraining pulmonary veins were found in three patients. Pulmonary arteries and veins could be clearly distinguished by selective visualisation using four-dimensional velocity-encoded cine magnetic resonance imaging. Flow measured individually in maldraining pulmonary veins in six patients and across the interatrial communication in three patients revealed a percentage of the overall shunt volume of 30–100% and 58–70%, respectively.

Selective visualisation of individual vessels and their flow characteristics by four-dimensional velocity-encoded cine magnetic resonance imaging facilitates in distinguishing adjacent pulmonary arteries and veins and thus improves the accurate diagnosis of maldraining pulmonary veins. By detailed quantification of shunt volumes, additional information for planning of treatment strategies is provided. This method adds clinical value and might replace contrast-enhanced magnetic resonance angiography in these patients in the future.

Adequate nutritional support is essential for normal infant growth and development. Infants with congenital cardiac disease are known to be at risk for growth failure. We sought to describe perioperative growth in infants undergoing surgical repair of two-ventricle congenital cardiac disease and assess for predictors of their pattern of growth.

Full-term infants who underwent surgical repair of two-ventricle congenital cardiac disease at a single institution were enrolled in a retrospective cohort study performed following a larger prospective study. Infants with facial, gastrointestinal, or neurologic anomalies, trisomy chromosomal abnormality, birth weight less than 2500 grams, or those transferred to another institution before discharge home were excluded. The primary outcome was change in weight-for-age z score from surgery to discharge. Our secondary outcome variable was post-operative hospital length of stay.

A total of 76 infants met the inclusion criteria. Medain age at surgery was 5 days with a range from 1 to 44. The median weight-for-age z score at surgery was −0.2 with a range from −2.9 to 2.8 and by discharge had dropped to −1.2 with a range from −3.4 to 1.8. The median change in weight-for-age z score from surgery to discharge was −1.0 with a range from −2.3 to 0.2. Delayed post-operative nutrition (p < 0.001) and reintubation following initial post-operative extubation (p = 0.001) were associated with decrease in weight-for-age z score.

Infants undergoing repair of two-ventricle congenital cardiac disease had poor growth in the post-operative period. This may be mitigated by early initiation of post-operative nutrition.

Although magnetic resonance imaging is a primary modality for following patients with connective tissue diseases, only a limited amount of the image data is utilised. The purpose of this study was to show the clinical applicability of an automated four-dimensional analysis method of magnetic resonance images of the aorta and develop normative data for the cross-sectional area of the entire thoracic aorta.

Magnetic resonance imaging was obtained serially over 3 years from 32 healthy individuals and 24 patients with aortopathy and a personal or family history of connective tissue disorder. Graph theory-based segmentation was used to determine the cross-sectional area for the thoracic aorta. Healthy individual data were used to construct a nomogram representing the maximum cross-sectional area 5th–95th percentile along the entire thoracic aorta. Aortic root diameters calculated from the cross-sectional area were compared to measured diameters from echocardiographic data. The cross-sectional area of the entire thoracic aorta in patients was compared to healthy individuals.

Calculated aortic root diameters correlated with measured diameters from echo data – correlation coefficient was 0.74–0.87. The cross-sectional area in patients was significantly greater in the aortic root, ascending aorta, and descending aorta compared to healthy individuals.

The presentation of the dimensional data for the entire thoracic aorta shows an important clinical tool for following patients with connective tissue disorders and aortopathy.

Following the Norwood palliation, neonates may require an escalation of inotropic and vasoactive support. Arginine Vasopressin may be uniquely useful in supporting this population.

A retrospective evaluation of neonates at this institution between November, 2007 and October, 2010 who received Arginine Vasopressin following the Norwood procedure. Data were recorded from the patient records at one hour prior to, and then 1, 2, 3, 4, 6, and 24 hours following Arginine Vasopressin initiation.

We included 28 neonates. The mean dose of Arginine Vasopressin was 0.0005 plus or minus 0.0003 units per kilogram per minute. There was an early response (less than 6 hours) characterised by an 8% increase in systolic blood pressure (p = 0.0004), a 100% increase in urine output (p = 0.02), and a 29% decrease in total fluid administration (p = 0.04). The late response (at 24 hours) revealed further increases in systolic blood pressure and urine output as well as a 53% decrease in serum lactate (p = 0.007) and increase in arterial pH from 7.36 to 7.45 (p less than 0.0001). These changes were not accompanied by increases in heart rate or inotrope score.

The initiation of Arginine Vasopressin in post-operative Norwood patients was temporally associated with an improvement in markers of perfusion including systolic blood pressure, urine output, lactate, and pH. Further studies are required to ascertain the efficacy of Arginine Vasopressin in this population.

Technical developments in paediatric cardiology over the last few decades have increased expectations on professionals, demanding of them more emotional competence and communicative ability. The aim of this study was to examine the approach of paediatric cardiologists in informing and communicating with the family of the patient.

A qualitative interview method was first tested in a pilot study with two paediatric cardiologists. There were nine subsequent semi-structured interviews that were carried out with paediatric cardiologists. A researcher performed all the interviews, which were taped, transcribed, decoded, and analysed.

Among paediatric cardiologists, how to break bad news to the family is an important concern, evident in findings regarding the significance of trust and confidence, the use of different emotional positions, and a common ambition to achieve skills to handle the situation. There is a need for reflection, education, and sharing of experiences. The cardiologists desire further development of teamwork and of skills in medical students and residents for delivering bad news.

Doctors are expected to cope with the complexities of diagnoses and decisions, while simultaneously being sensitive to the feelings of the parents, aware of their own emotions, and able to keep it all under control in the context of breaking the bad news to the parents and keeping them informed. These conflicting demands create a need to expand the professional role of the doctor by including more training in emotional competence and communicative ability, beginning in medical school and continuing through consultancy.

Congenital cardiac disease is the most common malformation, and a substantial source of mortality and morbidity in children and young adults. A role for genetic factors is recognised for these malformations, but overall few predisposing loci have been identified. Here we report the rationale, design, and first results of a multi-institutional congenital cardiac disease cohort, assembled mainly from the French-Canadian population of the province of Quebec and centred on families with multiple affected members afflicted by cardiac malformations.

Families were recruited into the study, phenotyped and sampled for DNA in cardiology clinics over the first 3 years of enrolment. We performed segregation analysis and linkage simulations in the subgroup of families with left ventricular outflow tract obstruction (LVOTO).

A total of 1603 participants from 300 families were recruited, with 169 out of 300 (56.3%) families having more than one affected member. For the LVOTO group, we estimate heritability to be 0.46–0.52 in our cohort. Simulation analysis demonstrated sufficient power to carry out linkage analyses, with an expected mean log-of-odds (LOD) score of 3.8 in 67 pedigrees with LVOTO.

We show feasibility and usefulness of a population-based biobank for genetic investigations into the causes of congenital cardiac disease. Heritability of LVOTO is high and could be accounted for by multiple loci. This platform is ideally suited for multiple analysis approaches, including linkage analysis and novel gene sequencing approaches, and will allow to establish segregation of risk alleles at family and population levels.

The 12-lead electrocardiogram shows a broad range of abnormal patterns in trained athletes. The primary end point of this study was to investigate P wave dispersion, and P wave durations and related factors in different genders applying for registration to the School of Physical Education and Sports.

From 2006 to 2009, a total of 2093 students – 1674 boys with a mean age of 19.8 plus or minus 1.9 years and 419 girls with a mean age of 19.1 plus or minus 1.8 years – were included in the study. All 12 leads of the resting electrocardiogram were evaluated for P wave dispersion and electrocardiogram abnormalities. Baseline parameters such as age, body weight, body height, and body mass index, as well as electrocardiogram findings such as P wave maximal duration and P wave dispersion, were significantly higher in boys than in girls. Of all the parameters tested with correlation analysis, only gender (p = 0.03) (r = 0.04), body weight (p < 0.001) (r = 0.07), body height (p = 0.004) (r = 0.06), and body mass index (p = 0.01) (p = 0.05) were correlated with P wave dispersion.

The frequencies of all electrocardiogram abnormalities, P wave dispersion, and P wave maximal duration were higher in boys as compared with girls in an unselected student population applying for registration to the School of Physical Education and Sports; in addition, P wave dispersion was correlated with gender, body weight, body height, and body mass index.

Children with congenital cardiac defects may have associated chromosomal anomalies, airway compromise, and/or pulmonary hypertension, which can pose challenges to adequate sedation, weaning from mechanical ventilation, and successful extubation. Propofol, with its unique properties, may be used as a bridge to extubation in certain cardiac populations.

We retrospectively reviewed 0–17-year-old patients admitted to the Cardiac Intensive Care Unit between January, 2007 and September, 2008, who required mechanical ventilation and received a continuous infusion of propofol as a bridge to extubation. Medical charts were reviewed for demographics, associated comorbidities, as well as additional sedation medications and haemodynamic trends including vital signs and vasopressor support during the peri-infusion period. Successful extubation was defined as no re-intubation required for respiratory failure within 48 hours. Outcomes measured were successful extubation, evidence for propofol infusion syndrome, haemodynamic stability, and fluid and inotropic requirements.

We included 11 patients for a total of 12 episodes. Propofol dose ranged from 0.4 to 5.6 milligram per kilogram per hour with an average infusion duration of 7 hours. All patients were successfully extubated, and none demonstrated worsening metabolic acidosis suggestive of the propofol infusion syndrome. All patients remained haemodynamically stable during the infusion with average heart rates and blood pressures remaining within age-appropriate ranges. One patient received additional fluid but no increase in vasopressors was needed.

This study suggests that propofol infusions may allow for successful extubation in a certain population of children with congenital cardiac disease. Further studies are required to confirm whether propofol is an efficient and safe alternative in this setting.

A variety of devices are available for transcatheter closure of unwanted shunts. We describe our experience with the use of the Amplatzer vascular plug IV in a consecutive series of infants.

A total of eight consecutive infants – all born preterm at gestational ages ranging from 24 to 35 weeks – undergoing transcatheter closure of unwanted shunts – persistently patent arterial duct in five patients, an aorta to right atrium fistula in one, multiple aortopulmonary collateral vessels in one, and an azygos vein to left atrium connection in one – are described. Their age, from birth, ranged between 3 and 11 months, and weight between 2.6 and 11.3 kilograms. All devices were delivered using percutaneous arterial or venous vascular access via a large lumen (0.038 inch) 4-French delivery catheter.

All lesions could be successfully occluded using one or more devices. Device diameters ranged between 4 and 8 millimetres, and exceeded the minimum diameter of the target vessel by 1 to 2 millimetres. Successful occlusion was confirmed either directly at angiography or on follow-up echocardiography. Of the infants who were mechanically ventilated prior to the procedure, three could be successfully weaned following closure of the shunt. There were no procedure-related complications.

The new vascular plug IV is cheap and efficacious in closing a variety of shunts in young infants, and warrants further extended clinical application.