Pulmonary valve stenosis is common in patients with Noonan’s syndrome. The response to balloon valvoplasty varies.

We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention.

This is a retrospective study conducted from 1995 to 2014.

Of 14 patients identified, seven had re-intervention 28±54 months (range 3–149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention. Their gradient subsequently decreased during follow-up and then became static before increasing years after intervention. In contrast, the gradient of patients not requiring further intervention continually reduced over time. Demographics did not differ between these groups.

We could not identify predisposing factors for long-term success of pulmonary valvoplasty in Noonan’s patients, but the trajectory of gradients differs significantly between patients needing re-intervention from those who remain free from re-intervention.

The aims of this study were to describe radiation level at our institution during transcatheter patent ductus arteriosus occlusion and to evaluate the components contributing to radiation exposure.

Transcatheter occlusion relying on X-ray imaging has become the treatment of choice for patients with patent ductus arteriosus. Interventionists now work hard to minimise radiation exposure in order to reduce risk of induced cancers.

We retrospectively reviewed all consecutive children who underwent transcatheter closure of patent ductus arteriosus from January 2012 to January 2016. Clinical data, anatomical characteristics, and catheterisation procedure parameters were reported. Radiation doses were analysed for the following variables: total air kerma, mGy; dose area product, Gy.cm2; dose area product per body weight, Gy.cm2/kg; and total fluoroscopic time.

A total of 324 patients were included (median age=1.51 [Q1–Q3: 0.62–4.23] years; weight=10.3 [6.7–17.0] kg). In all, 322/324 (99.4%) procedures were successful. The median radiation doses were as follows: total air kerma: 26 (14.5–49.3) mGy; dose area product: 1.01 (0.56–2.24) Gy.cm2; dose area product/kg: 0.106 (0.061–0.185) Gy.cm2/kg; and fluoroscopic time: 2.8 (2–4) min. In multivariate analysis, a weight >10 kg, a ductus arteriosus width <2 mm, complications during the procedure, and a high frame rate (15 frames/second) were risk factors for an increased exposure.

Lower doses of radiation can be achieved with subsequent recommendations: technical improvement, frame rate reduction, avoidance of biplane cineangiograms, use of stored fluoroscopy as much as possible, and limitation of fluoroscopic time. A greater use of echocardiography might even lessen the exposure.

Optimal imaging is essential for catheter-based interventions in CHD. The three-dimensional models in volume-rendering technique currently in use are not standardised. This paper investigates the feasibility and impact of novel three-dimensional guidance with segmented and tessellated three-dimensional heart models in catheterisation of CHD. In addition, a nearly radiation-free two- to three-dimensional registration and a biplane overlay were used.

We analysed 60 consecutive cases in which segmented tessellated three-dimensional heart models were merged with live fluoroscopy images and aligned using the tracheal bifurcation as a fiducial mark. The models were generated from previous MRI or CT by dedicated medical software. We chose the stereo-lithography format, as this promises advantage over volume-rendering-technique models regarding visualisation. Prospects, potential benefits, and accuracy of the two- to three-dimensional registration were rated separately by two paediatric interventionalists on a five-point Likert scale. Fluoroscopy time, radiation dose, and contrast dye consumption were evaluated. Over a 10-month study period, two- to three-dimensional image fusion was applied to 60 out of 354 cases. Of the 60 catheterisations, 73.3% were performed in the context of interventions. The accuracy of two- to three-dimensional registration was sufficient in all cases. Three-dimensional guidance was rated superior to conventional biplane imaging in all 60 cases. We registered significantly smaller amounts of used contrast dye (p<0.01), lower levels of radiation dose (p<0.02), and less fluoroscopy time (p<0.01) during interventions concerning the aortic arch compared with a control group.

Two- to three-dimensional image fusion can be applied successfully in most catheter-based interventions of CHD. Meshes in stereo-lithography format are accurate and base for standardised and reproducible three-dimensional models.

The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic.

This is a retrospective review of clinical data obtained during initial outpatient evaluation.

A total of 708 patients met the evaluation criteria. Female patients outnumbered males, 3.45:1. Caucasians were over-represented at 94.1% of patients. Median age at diagnosis was 15.7 years. Joint hypermobility occurred in 57.3% of patients; 22.4% had hypermobile Ehlers–Danlos syndrome; and 34.9% had hypermobility spectrum disorder. Median age of onset of symptoms was 12.6 years in patients with hypermobility versus 13.7 years in those without (p=0.0001). Median duration of symptoms was 3.3 years with hypermobility versus 1.5 years without (p<0.00001). Putative triggers included infection in 23.6% of patients, concussion in 11.4%, and surgery/trauma in 2.8%. Concurrent inflammatory disorders were noted in 5.2% of patients. Six symptoms comprised 80% of initial patient complaints. Overall, 66% of patients subsequently had at least 10 symptoms, 50% had at least 14 symptoms, and 30% reported at least 26 symptoms. Symptoms were largely cardiovascular, gastrointestinal, and neurological. Paediatric patients with postural orthostatic tachycardia syndrome seen in a large speciality clinic are predominantly female, are mostly Caucasian, have onset of symptoms in early adolescence, and have symptoms for over two years before diagnosis. Over half of patients have joint hypermobility. More than one-third of patients have a possible autoimmune or inflammatory trigger, including infection, concussion, or surgery/trauma. Patients experience symptoms that are highly variable and multi-system in origin over the course of illness.

Diagnostic errors cause significant patient harm and increase costs. Data characterising such errors in the paediatric cardiac intensive care population are limited. We sought to understand the perceived frequency and types of diagnostic errors in the paediatric cardiac ICU.

Paediatric cardiac ICU practitioners including attending and trainee physicians, nurse practitioners, physician assistants, and registered nurses at three North American tertiary cardiac centres were surveyed between October 2014 and January 2015.

The response rate was 46% (N=200). Most respondents (81%) perceived that diagnostic errors harm patients more than five times per year. More than half (65%) reported that errors permanently harm patients, and up to 18% perceived that diagnostic errors contributed to death or severe permanent harm more than five times per year. Medication side effects and psychiatric conditions were thought to be most commonly misdiagnosed. Physician groups also ranked pulmonary overcirculation and viral illness to be commonly misdiagnosed as bacterial illness. Inadequate care coordination, data assessment, and high clinician workload were cited as contributory factors. Delayed diagnostic studies and interventions related to the severity of the patient’s condition were thought to be the most commonly reported process breakdowns. All surveyed groups ranked improving teamwork and feedback pathways as strategies to explore for preventing future diagnostic errors.

Paediatric cardiac intensive care practitioners perceive that diagnostic errors causing permanent harm are common and associated more with systematic and process breakdowns than with cognitive limitations.

Optimal management strategy for native aortic coarctation in neonates and young infants is still a matter of debate. The surgical procedure, histopathologic research, and clinical outcome in 15 neonates who underwent surgery after successful balloon angioplasty is the basis of this study.

Between 01 October, 2014 and 01 August, 2017, we enrolled 15 patients with native aortic coarctation for this study. These patients had complications regarding recoarctation, following balloon angioplasty intervention at our institute and other centres. Surgically extracted parts were examined histopathologically and patient’s data were collected retrospectively.

The reasons for recurrence of recoarctation after balloon angioplasty are as follows: patients with higher preoperative echocardiographic gradients had recoarctation earlier, neointimal proliferation, aortic intimal fibrosis at the region of ductal insertion, and ductal residual tissue debris after balloon angioplasty. No repeat intervention was required in the 15 patients who underwent surgery followed by balloon angioplasty. Early mortality was seen in one patient after surgery. Postoperative complication in the surgical group occurred in the form of chylothorax in one patient.

In centres in which the neonatal ICU is inexperienced, balloon angioplasty is particularly recommended. In developing neonatal clinics, balloon angioplasty, when performed on patients at their earliest possible age, delays actual corrective operation to a later date, which in turn provides less risky surgical outcomes in infants who are gaining weight, growing, and do not have any haemodynamic complaints.

SCN5A encodes sodium-channel α-subunit Nav1.5. The mutations of SCN5A can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia.

Genomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes. Sanger sequencing was applied to verify the mutation co-segregated in the family.

A novel missense mutation in SCN5A (C335R) was identified, and this mutation co-segregated within the affected family members. This missense mutation was predicted to result in amplitude reduction in peak Na+ current, further leading to channel protein dysfunction. Our study expands the spectrum of SCN5A mutations and contributes to genetic counselling of families with arrhythmia.

Abstract presentations of scientific information at meetings are important for broadcasting new information. Publication of these studies should be the final goal, but minimal data exist documenting publication rates, especially for paediatric sub-speciality meetings. The goal of this study was to document the manuscript publication rate for paediatric cardiac echocardiography abstracts and to determine whether there were differences between abstracts that were published versus not published.

Paediatric cardiac echocardiography abstracts presented from 2007 to 2011 at the American Society of Echocardiography Meetings were reviewed. Characteristics of the abstracts were noted. A Medline/Pubmed search was performed using keywords, first author, and senior author criteria to determine publication. Fisher’s exact tests or χ2 tests were used for analysis.

A total of 194 abstracts were reviewed. In all, 27 abstracts were oral presentations and 167 were poster presentations. A total of 124 abstracts were prospective studies and 70 were retrospective studies; 11 abstracts were basic science studies and 183 were clinical studies. Altogether, 25 abstracts dealt with three-dimensional echocardiography, 15 with fetal echocardiography, 56 with deformation analysis, 79 with standard transthoracic echocardiography, and 19 were in the other category. A total of 73 abstracts were subsequently published – with a 37.6% publication rate – 2.1±1.7 years after initial presentation. There were no significant differences in publication rates based on the above-noted variables.

A paediatric cardiac echocardiography abstract publication rate of 37.6% is comparable to previous published publication rates for other meetings. No differences in variables analysed were noted between published versus unpublished abstracts.

The right ventricular adaptations early after surgery in infants with tetralogy of Fallot are important to understand the changes that occur later on in life; this physiology has not been fully delineated. We sought to assess early postoperative right ventricular remodelling in patients with tetralogy of Fallot by cardiac MRI.

Subjects with tetralogy of Fallot under 1 year of age were recruited following complete surgical repair for tetralogy of Fallot. Protocol-based cardiac MRI to assess anatomy, function, and flows was performed before hospital discharge using the feed and sleep technique, an unsedated imaging technique.

MRI was completed in 16 subjects at a median age of 77 days (interquartile range 114). There was normal ventricular ejection fraction and indexed right ventricular end-diastolic volume (48±13 cc/m2), but elevated right ventricular mass (z score 6.2±2.4). Subjects requiring a transannular patch or right ventricle to pulmonary artery conduit had moderate pulmonary insufficiency (regurgitant fraction 27±16%).

Early right ventricular remodelling after surgical repair for tetralogy of Fallot is characterised by significant pulmonary regurgitation, right ventricular hypertrophy, and lack of dilation. Performing cardiac MRI using the feed and sleep technique is feasible in infants younger than 5 months. These results might open new avenues to study longitudinal right ventricular changes in tetralogy of Fallot and to further explore the utility of unsedated MRI in patients with other types of CHDs.

Microvascular dysfunction in hypertrophic cardiomyopathy has been associated with poor clinical outcome. Several studies have demonstrated a reduced perfusion reserve proportional to the magnitude of the hypertrophy. We investigated the utility of stress perfusion cardiac MRI to detect microvascular dysfunction in children with hypertrophic cardiomyopathy.

From January 2016 to January 2017, 13 patients, with a mean age of 15.3 years, with hypertrophic cardiomyopathy underwent regadenoson stress perfusion cardiac MRI (1.5-T Siemens Aera). A single-shot, T1-weighted saturation recovery gradient echo was used for first-pass perfusion in a multiple-slices group, including three short-axis slices and one four-chamber slice. Coronary vasodilatory stress was achieved using bolus injection of regadenoson (lexiscan 0.4 mg/5 ml) and dynamic perfusion during rest and stress performed by administering 0.05 mmol/kg of gadolinium contrast agent (gadoteridol) injected at a rate of 3.5 ml/s, followed by assessment of viability using two-dimensional phase-sensitive inversion recovery of the entire myocardium.

All patients completed protocols with no interruptions. In all, seven patients developed perfusion defects after the administration of regadenoson. Asymmetric septal hypertrophy was the most common pattern of hypertrophic cardiomyopathy (n=4) in those with abnormal perfusion. A total of four patients with perfusion defects had a maximum wall thickness <30 mm. The finding of perfusion defects in areas without late gadolinium enhancement in some of our patients indicates that gadolinium enhancement by itself could underestimate the true extension of microvascular disease. Out of seven patients, five patients with positive stress cardiac MRI have undergone implantable cardioverter defibrillator placement based on current guidelines.

Regadenoson stress cardiac MRI is feasible and clinically valuable in paediatric patients. It is particularly effective in unmasking abnormal myocardial perfusion in the presence of microvascular dysfunction in children with hypertrophic cardiomyopathy.

The objective of this study was to demonstrate the safety and feasibility of using the new Cardia Ultrasept II™ device with interposed Goretex patch referring to the perforation of polyvinyl alcohol membrane.

Great advances have been made in the development of devices for closure of atrial septal defect. The Cardia Ultrasept II™ with interposed Goretex patch is the modified last generation of Cardia devices, having the advantage of a super-low profile within the atria and an integral locking delivery-retrieval mechanism that ensures safe deployment. In addition, with the interposition of the Goretex, it has been possible to abolish perforation of Ivalon’s membrane as a complication.

Patients with ostium secundum atrial septal defect with surrounding rims with a minimum length of 5 mm and who underwent atrial septal defect closure with the new Ultrasept II™ with Goretex patch were included from two paediatric cardiac centres. Primary end point was to determine perforation of the Goretex membrane at follow-up; secondary end point included right ventricular diastolic diameter. In total, 30 patients underwent atrial septal defect closure at a median age of 6 (1–29) years. At follow-up for 6 (range, 1–15) months, freedom from perforations was 100%. A continuous decrease in right ventricular diastolic diameter was found with an initial median of 30 (25–49) mm and after catheterisation of 27.5 (18–33) mm, p=0.01, and Z-score of 2.6 (1.7–3.6) versus 1.9 (1–2.9) after procedure, p=0.01.

The new modified generation of the Ultrasept II™ device with interposed Goretex patch is a good alternative to achieve atrial septal defect closure safely and feasibly with no membrane perforation at follow-up.

Enoxaparin may be used to prevent central venous catheter-related thrombosis in patients with CHD. We aimed to determine whether current enoxaparin dosing regimens effectively achieve anti-factor Xa concentrations within prophylactic goal ranges in this patient population.

We implemented a formal protocol aimed at reducing central venous catheter-related thrombosis in children with CHD in January, 2016. Standard empiric prophylactic enoxaparin dosing regimens were used – for example, 0.75 mg/kg/dose every 12 hours for patients <2 months of age and 0.5 mg/kg/dose every 12 hours for patients ⩾2 months of age – with anti-factor Xa goal range of 0.25–0.49 IU/ml. Patients <2 years of age who received enoxaparin and had at least one valid steady-state anti-factor Xa measurement between 25 January, 2016 and 31 August, 2016 were retrospectively reviewed.

During the study period, 47 patients had 186 anti-factor Xa concentrations measured, of which 20 (11%) were above and 112 (60%) were below the prophylactic goal range. Anti-factor Xa concentrations within the goal range were ultimately achieved in 31 patients. Median dose required to achieve anti-factor Xa concentrations within the prophylactic range was 0.89 mg/kg/dose (25, 75%: 0.75, 1.11) for patients <2 months (n=23 patients) and 0.79 mg/kg/dose (25, 75%: 0.62, 1.11) for patients ⩾2 months (n=8 patients).

Enoxaparin doses required to achieve prophylactic anti-factor Xa concentrations in young children with CHD were consistently higher than the currently recommended prophylactic dosing regimens. Further study is needed to determine whether dose titration to achieve prophylactic anti-factor Xa concentrations is effective in preventing central venous catheter-related thrombosis.

Newborn atrial flutter can be treated by medications, pacing, or direct current cardioversion. The purpose is to compare the cost-effectiveness of digoxin, pacing, and direct current cardioversion for the treatment of atrial flutter in neonates.

A decision tree model was developed comparing the efficacy and cost of digoxin, pacing, and direct current cardioversion based on a meta-analysis of published studies of success rates of cardioversion of neonatal atrial flutter (age<2 months). Patients who failed initial attempt at cardioversion progressed to the next methodology until successful. Data were analysed to assess the cost-effectiveness of these methods with cost estimates obtained from 2015 Medicare reimbursement rates.

The cost analysis for cardioversion of atrial flutter found the most efficient method to be direct current cardioversion at a cost of $10 304, pacing was next at $11 086, and the least cost-effective was digoxin at $14 374. The majority of additional cost, regardless of method, was from additional neonatal ICU day either owing to digoxin loading or failure to covert. Direct current cardioversion remains the most cost-effective strategy by sensitivity analyses performed on pacing conversion rate and the cost of the neonatal ICU/day. Direct current cardioversion remains cost-effective until the assumed conversion rate is below 64.6%.

The most cost-efficient method of cardioverting a neonate with atrial flutter is direct current cardioversion. It has the highest success rates based on the meta-analysis, shorter length of stay in the neonatal ICU owing to its success, and results in cost-savings ranging from $800 to $4000 when compared with alternative approaches.