Hypertrophic cardiomyopathy is hereditary and the commonest medical cause of sudden death in childhood and adolescence, which is the reason for recommending screening in children with an affected parent. A diagnosis of hypertrophic cardiomyopathy implies lifestyle modifications, restrictions that may bring profound changes to the affected individual and impacts on the whole family.

To describe parents’ experiences of how the diagnosis of hypertrophic cardiomyopathy in their child affects daily life.

Twelve parents with asymptomatic children diagnosed with hypertrophic cardiomyopathy through family screening were interviewed 12–24 months after the diagnosis. Analysis was conducted with qualitative content analysis.

Parents described the immediate reaction of shock, grief, and injustice but were also grateful that the child was still asymptomatic. The diagnosis caused a significant change in lifestyle for most families due mainly to restrictions of sports activities. Parents had to adapt to the new life and develop strategies to protect their child. Death became a reality causing feelings of vulnerability. Regular medical check-ups and access to the liaison nurse were described as important factors of reassurance.

Parents experienced early diagnosis as positive in a long-term perspective. The main changes perceived were ascribed to lifestyle modifications. Parents with athletic children experienced the lifestyle modifications as more severe. They strived to create a new life where they could feel secure and have faith in the future, and emphasised the need of regular follow-up and support from health care professionals as “mental pain relief”, which helped them achieve a new state of normality.

To analyse the relative frequency and gender ratios in the procedures (both surgical and catheter-based interventions) performed for cardiac diseases in Indian children.

Not many studies are available in the developing countries with regard to the prevalence, relative frequency, or gender distribution of cardiac diseases in children. As universal newborn screening is not carried out for congenital cardiac diseases, the statistics are difficult to ascertain. Do female and male children with cardiac disease get equal parental preference in terms of surgical correction and catheter interventions in India? This question is also unanswered.

Analysis of 15,066 consecutive Indian children aged <18 years who were operated upon or had catheter intervention at a single tertiary care centre. Relative frequency and male/female ratios of cardiac lesions in these children were determined and compared with the studies in literature.

Overall male/female ratio in the study was 1.4:1. Ventricular septal defect was the most common lesion (24.2%) with male/female ratio of 1.5:1, followed by tetralogy of Fallot (18.7%, 1.6:1), atrial septal defect (14.4%, 0.9:1) and so on. Male children dominated the total number of procedures performed.

In most of the individual cardiac lesions, the relative frequency was different from that of international studies. The gender ratio for the majority of the individual type of cardiac problems was different from that of international references. These findings may suggest a preference for the male child in the treatment of cardiac diseases in India, which could possibly be related to social causes.

In patients with varying degrees of left heart hypoplasia, it is often difficult to determine whether the left heart structures are adequate in size to support biventricular circulation. Historically, the decision to pursue a single ventricle or biventricular repair needed to be made early and was often irreversible. The hybrid procedure may be a better initial approach for patients with borderline left ventricles.

We describe a series of four patients with various congenital cardiac malformations, all of whom had borderline left ventricles. Based on pre-operative echocardiograms, several scoring systems and left ventricle volumes were used to predict the optimal type of repair. A left ventricular volume of 20 millilitres per square metre was used as the minimum cut-off value for adequacy of biventricular repair.

The left ventricular volumes for the patients were 17.1, 23.7, 25.4, and 25.8 millilitres per square metre. In none of the four patients were the calculations unanimous in the recommendation to pursue either type of repair. All patients underwent the hybrid procedure and then eventual single ventricle palliation (two patients) or biventricular repair (two patients). All survived with a mean follow-up of 18 plus or minus 3.9 months.

The hybrid procedure may be the best option in patients with a borderline left ventricle. It can serve as a bridge to a more definitive repair when patients are older, larger, and for whom the decision between single ventricle and biventricular repair can be more easily made.

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.

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.

Dilated cardiomyopathy is an important cause of cardiac failure in both children and adults, but is more progressive in children. In adult dilated cardiomyopathy, left ventricular remodelling is associated with changes in the plasma levels of matrix metalloproteinases and tissue inhibitor of metalloproteinases. Plasma matrix metalloproteinases and tissue inhibitors of metalloproteinase changes in paediatric dilated cardiomyopathy have not been examined. This study developed a low blood volume, high-sensitivity assay to test the hypothesis that unique and differential plasma matrix metalloproteinases and tissue inhibitors of metalloproteinase profile exist in patients with paediatric dilated cardiomyopathy.

A systemic blood sample (1 millilitre) was obtained from seven children aged 8 plus or minus 7 years with dilated cardiomyopathy and 26 age-matched normal volunteers. Using a high-throughput multiplex suspension immunoassay, plasma levels were quantified for collagenases (matrix metalloproteinase-8), gelatinases (matrix metalloproteinase-2 and -9), lysins (matrix metalloproteinase-3 and -7), and tissue inhibitor of metalloproteinases-1, -2, and -4. The matrix metalloproteinase to tissue inhibitors of metalloproteinases ratios were also calculated. The plasma matrix metalloproteinase-2, -7, -8, and -9 levels were increased by greater than twofold in patients with dilated cardiomyopathy than normal patients (with p less than 0.05). Patients with dilated cardiomyopathy also had significantly higher tissue inhibitors of metalloproteinases-1 and -4 (298% and 230%; with p less than 0.05).

These unique findings show that a specific plasma matrix metalloproteinase/tissue inhibitor of metalloproteinase profile occurs in paediatric dilated cardiomyopathy when compared to the cases of normal children. These distinct differences in the determinants of myocardial matrix structure and function may contribute to the natural history of dilated cardiomyopathy in children and may provide a novel biomarker platform in paediatric dilated cardiomyopathy.

Transcatheter stent placement carries the risk of cardiovascular aneurysm or rupture. Covered stent implantation reduces these risks. The recently marketed Advanta V12 large-diameter-covered stent is pre-mounted and requires 9 (8)-11 Fr delivery systems. The aim was to report on the early results of the treatment of various cardiovascular obstructions by the implantation of a new polytetrafluoroethylene-covered stent (V12).

Graft stents on balloons with a diameter (12, 14, 16 millimetres) sufficient to anchor the stent in various obstructions (congenital aortic coarctation, n = 5; obstruction after ascending aorta repair, n = 2; pulmonary arteries, n = 5; inferior caval vein, n = 1; atretic superior caval vein, n = 1; pulmonary vein obstruction, n = 1; and right ventricular outflow tract, n = 1) were implanted using the smallest available delivery system. Secondary dilation with larger-diameter balloons was performed when the residual pressure was gradient, the stent-vessel wall relationship or stent re-coiling due to different reasons needed a re-intervention by pure ballooning or second stent placement.

All 16 patients aged 5–46 years underwent V12 implantation. The variability of the treated lesions and the need for additional interventions were responsible for large ranges in fluoroscopy time between 7.3 to 48.2 minutes (median 17.3). Considering the additional procedures, the V12 stent achieved the desired result in all cases. There were no major complications. At short-term median follow-up of 2 months, all patients are alive and well with no evidence of stent failing.

These initial results show that the covered Advanta V12 large-diameter stent is safe and effective in the immediate treatment of various cardiovascular obstructions. Long-term follow-up is required.

The objective of this study was to evaluate the early and late results of atrioventricular valve surgery after Fontan operation.

Atrioventricular valve regurgitation is a known perioperative risk factor for Fontan operation. There are limited data on the outcomes of late atrioventricular valve surgery following Fontan operation.

Patients who underwent atrioventricular valve surgery following Fontan procedure were identified from the Mayo Clinic Fontan database. Medical records were reviewed for pre-operative, operative, and post-operative clinical and haemodynamic data. All patients not known to be deceased were sent health status questionnaires.

A total of 61 patients (28 females) underwent atrioventricular valve surgery following Fontan procedure. The median age at atrioventricular valve surgery was 14 years. The median duration between Fontan and atrioventricular valve surgery was 4.7 years. Median follow-up was 9 years. There were a total of 32 (52%) deaths with 8 (13%) within 30 days of surgery. The 5-, 10-, and 15-year survival rates were 67%, 57%, and 45%, respectively. On follow-up, 44 of 61 (72%) had arrhythmias, 21 of 29 (72%) were symptomatic, and 12 of 61 (20%) developed protein-losing enteropathy. On multivariate analysis, reduced ventricular function and development of protein-losing enteropathy were associated with decreased survival.

Atrioventricular valve surgery after Fontan procedure is associated with substantial late morbidity and mortality. Atrioventricular valve surgery in this cohort of patients portends poor long-term outcome and is associated with a high incidence of protein-losing enteropathy. Reduced ventricular function and development of protein-losing enteropathy were associated with decreased survival.

The aim of this study was to investigate the usefulness of ambulatory blood pressure monitoring versus head-up tilt test in the evaluation of children with a history of syncope.

We considered 146 consecutive children with more than one episode of syncope. All patients had a normal electrocardiogram at rest and were otherwise considered to be healthy. Forty-six patients,19 male, with a mean age of 13.6 plus or minus 5.6 years, were studied with a head-up tilt test and 100 patients, 41 male with a mean age of 9.4 plus or minus 5.6 years, were studied with ambulatory blood pressure monitoring. Twelve patients underwent both procedures. Hypotension during ambulatory blood pressure monitoring was defined when mean blood pressure values were lower than the 50th centile and the head-up tilt test was positive when syncope occurred. All patients were followed for 10 plus or minus 2 months.

Ambulatory blood pressure monitoring showed postural hypotension in 91% children, while head-up tilt test was positive for 54%. In the group of children having both tests, two of them were negative for both, 10 of 12 children had a positive ambulatory blood pressure monitoring while only five of 10 children had a positive response to head-up tilt test.

When a child with a normal resting electrocardiogram is referred with a typical history of syncope, the use of ambulatory blood pressure monitoring as a non-invasive first step for diagnosis of postural hypotension may be more sensitive than the head-up tilt test. Behavioural adjustments resolved the continued syncope in most cases. If episodes persist then the head-up tilt test is indicated.