Dilatation of the ascending aorta is described in Turner’s syndrome with variable prevalence (6.8–32%). Reported series typically include patients with associated cardiac anomalies.

To characterise the prevalence, age of onset, and the progress of dilatation of the ascending aorta in Turner’s syndrome patients free of structural cardiac anomalies. Potential risk factors such as karyotype and growth hormone therapy were analysed for correlation with aortic dilatation.

We carried out a retrospective study with data collected from medical records and echocardiography studies. Patients with Tuner’s syndrome followed-up between 1992 and 2010 with at least two echocardiography studies were eligible. Patients with previous cardiac surgery or under anti-hypertensive medication were excluded. Ascending aorta diameter measurements were adjusted for body surface area, and dilatation was defined as Z-score>2.

The study population consisted of 44 patients, aged 11.9±7.4 years at the first echocardiogram and 17.9±7.3 years at the last follow-up, with a follow-up duration of 6.0±3.7 years. A total of 13 (29.5%) patients exhibited aortic dilatation during follow-up, suggesting an actuarial estimate of the freedom from aortic dilatation dropping from 86 to 70% and then to 37% at 10, 20, and 30 years of age, respectively. There was no statistically significant impact of karyotype or growth hormone therapy on aortic Z-score progression.

The prevalence of dilatation of the ascending aorta in Turner’s syndrome patients free of structural aortic anomalies is comparable with published data with associated lesions. Growth hormone therapy and karyotype had no significant impact; however, longitudinal follow-up is warranted.

To develop a prediction model based on echocardiographic findings to estimate the probability of the need for neonatal cardiac invasive therapy, including cardiac surgery or catheter-based therapy, in foetuses with CHD.

Retrospective cohort study: a prediction model was developed based on echocardiographic findings on the examination of the four-chamber, the three-vessel, and the three-vessel and tracheal views. We assessed performance using the area under the curve of the receiver operating characteristic.

Among 291 patients with prenatal diagnosis of CHD and complete follow-up, 175 (60.1%) required neonatal cardiac invasive therapy. The variables “functionally single ventricle”, “great artery reverse flow”, and “congenital heart block” had a discrimination value of 100% and were excluded from the model. In univariate and multivariate analysis, “non-visualisation of a great vessel”, “asymmetry of the great vessels”, “visualisation of one atrioventricular valve”, and “ventricular asymmetry” were significantly associated with the need for neonatal cardiac invasive therapy. The area under the receiver operating characteristic curve was 0.9324 (95% CI 0.92–0.97).

A prediction model based on echocardiographic findings in foetuses with CHD, even without a definite diagnosis, allows an accurate estimation of the probability of requiring neonatal cardiac invasive therapy. This can modify patient care, especially in regions where a Foetal Medicine Specialist or a Paediatric Cardiologist is not available and referral may be extremely difficult due to social and economic barriers.

Parents of children with CHD require home care knowledge in order to ensure their child’s health and safety, but there has been no research on how to achieve this in a resource-constrained environment. The aim of this investigation was to compare parent and nurse perceptions of parent readiness for discharge after a structured nurse-led parent discharge teaching programme in India.

A pre-post design was used to compare parent and nurse perceptions of parental uncertainty and readiness for hospital discharge before and after introduction of the parent education discharge instruction programme in a paediatric cardiac surgery unit.

Parents (n=68) and nurses (n=63) participated in this study. After the discharge programme implementation, parents had less uncertainty (M=93.3 SD=10.7 versus M=83.6 SD=4.9, p=0.001) and ambiguity (M=40.8 SD=6.8 versus M=33.4 SD=3.7, p=0.001) about their child’s illness; however, they rated themselves as being less able to cope with the transition to home (M=24.3 SD=4.1 versus 23.1 SD=2.2, p=0.001) and as having less support at home than that required (M=31.5 SD=9.9 versus 30.9 SD=3.2, p=0.001). Parents’ and nurses’ perception of parental readiness for hospital discharge were more closely aligned after implementation of a nurse-led discharge programme (r=0.81, p=0.001).

The results of this study suggest that the discharge programme had positive and negative effects on parental perceptions of uncertainty and readiness for discharge. Further examination is warranted to delineate these influences and to design methods for supporting parents during the transition to home care.

This is the first autopsy study in the United Kingdom to analyse the demographic and pathological characteristics of atheroma associated with sudden cardiac death in young people.

An observational retrospective study of referred cases of sudden cardiac death in the young (⩽35 years) associated with premature atheroma was carried out.

In total, 46 cases were referred, with a median age of 30 years (27, 32); 72% of the referred cases were male, with a mean body mass index of 30 kg/m2. Circumstances of death were as follows: at rest (n=21), exertion (n=7), in bed (n=7), related to drugs/alcohol (n=4), and unknown (n=7). A previous cardiac history was provided in 10 cases. A history of class A/B drug use was found in eight cases. There was macroscopic evidence of infarction in 10 cases (acute, n=3 and chronic, n=7). Microscopically, 10 cases demonstrated contraction band necrosis, 11 acute infarction, and 11 chronic infarction. Single-vessel disease predominated (n=28). The left anterior descending coronary artery was involved in 39/46 cases. Thrombosis was seen in 16 cases, mainly due to erosion; one case showed dual pathology with arrhythmogenic right ventricular cardiomyopathy and another showed left ventricular hypertrophy.

This study highlights premature atheroma mainly in a single vessel in young people with or without evidence of ischaemic damage in the ventricle. Dual pathology may occur. The role of arrhythmias and channelopathies are important considerations. Premature atheroma should prompt investigation for dyslipidaemias in family members.

In the era of multi-modality imaging, this study compared contemporary, pre-operative echocardiography and cardiac MRI in predicting the need for intervention on additional lesions before surgical bidirectional cavopulmonary connection.

A total of 72 patients undergoing bidirectional cavopulmonary connection for single-ventricle palliation between 2007 and 2012, who underwent pre-operative assessment using both echocardiography and MRI, were included. The pre-determined outcome measure was any additional surgical or catheter-based intervention within 6 months of bidirectional cavopulmonary connection. Indices assessed were as follows: indexed dimensions of right and left pulmonary arteries, coarctation of the aorta, adequacy of interatrial communication, and degree of atrioventricular valve regurgitation.

Median age at bidirectional cavopulmonary connection was 160 days (interquartile range 121–284). The following MRI parameters predicted intervention: Z score for right pulmonary artery (odds ratio 1.77 (95% confidence interval 1.12–2.79, p=0.014)) and left pulmonary artery dimensions (odds ratio 1.45 (1.04–2.00, p=0.027)) and left pulmonary artery report conclusion (odds ratio 1.57 (1.06–2.33)). The magnetic resonance report predicted aortic arch intervention (odds ratio 11.5 (3.5–37.7, p=0.00006)). The need for atrioventricular valve repair was associated only with magnetic resonance regurgitation fraction score (odds ratio 22.4 (1.7–295.1, p=0.018)). Echocardiography assessment was superior to MRI for predicting intervention on interatrial septum (odds ratio 27.7 (6.3–121.6, p=0.00001)).

For branch pulmonary arteries, aortic arch, and atrioventricular valve regurgitation, MRI parameters more reliably predict the need for intervention; however, echocardiography more accurately identified the adequacy of interatrial communication. Approaching bidirectional cavopulmonary connection, the diagnostic strengths of MRI and echocardiography should be acknowledged when considering intervention.

Sildenafil is frequently prescribed to children with single ventricle heart defects. These children have unique hepatic physiology with elevated hepatic pressures, which may alter drug pharmacokinetics. We sought to determine the impact of hepatic pressure on sildenafil pharmacokinetics in children with single ventricle heart defects.

A population pharmacokinetic model was developed using data from 20 single ventricle children receiving single-dose intravenous sildenafil during cardiac catheterisation. Non-linear mixed effect modelling was used for model development, and covariate effects were evaluated based on estimated precision and clinical significance.

The analysis included a median (range) of 4 (2–5) pharmacokinetic samples per child. The final structural model was a two-compartment model for sildenafil with a one-compartment model for des-methyl-sildenafil (active metabolite), with assumed 100% sildenafil to des-methyl-sildenafil conversion. Sildenafil clearance was unaffected by hepatic pressure (clearance=0.62 L/hour/kg); however, clearance of des-methyl-sildenafil (1.94×(hepatic pressure/9)−1.33 L/hour/kg) was predicted to decrease ~7-fold as hepatic pressure increased from 4 to 18 mmHg. Predicted drug exposure was increased by ~1.5-fold in subjects with hepatic pressures ⩾10 versus <10 mmHg (median area under the curve=533 versus 792 µg*h/L).

Elevated hepatic pressure delays clearance of the sildenafil metabolite – des-methyl-sildenafil – and increases drug exposure. We speculate that this results from impaired biliary clearance. Hepatic pressure should be considered when prescribing sildenafil to children. These data demonstrate the importance of pharmacokinetic assessments in patients with unique cardiovascular physiology that may affect drug metabolism.

The global prevalence of obesity in school-age children and adolescents has increased in recent decades. Obesity modifies some aspects of the cardiovascular system in order to preserve the body homoeostasis. Echocardiography to study ventricular function plays an important role in the evaluation of pathological re-modelling associated with left ventricular dysfunction. The aim of this study was to evaluate the left ventricle function and structure with conventional echocardiography and to analyse the longitudinal deformity of the left ventricle using myocardial-tracking signals in a group of severely obese adolescents.

We carried out a descriptive cross-sectional study. We describe the evaluation of the left ventricle using conventional bi-dimensional echocardiography and the myocardial-tracking signals in severely obese adolescents. There were 34 severely obese adolescents included in our study; 52% had a left ventricular ejection fraction<55%, the left ventricular end-diastolic diameter was increased in 70.5% of patients, and 32.3% had an increase in left ventricular mass. On average, 78.9% had abnormal values of left ventricle longitudinal deformations. The number of segments affected per patient was, on average, 5.8, with the anterior apical segment being the most commonly affected. There was a decrease in global longitudinal deformity in 79.4% of the cases.

More than half of this group of asymptomatic severely obese adolescents showed abnormalities in left ventricular structure and function evaluated using traditional echocardiographic methods, but 100% of the cases showed abnormalities in longitudinal deformation in at least one of the 17 left ventricle segments evaluated using myocardial-tracking signals.

Autonomic diabetic neuropathy is one of the most common complications of type 1 diabetes mellitus, and studies using heart rate variability to investigate these individuals have shown inconclusive results regarding autonomic nervous system activation.

To investigate the dynamics of heart rate in young subjects with type 1 diabetes mellitus through nonlinear and linear methods of heart rate variability.

We evaluated 20 subjects with type 1 diabetes mellitus and 23 healthy control subjects. We obtained the following nonlinear indices from the recurrence plot: recurrence rate (REC), determinism (DET), and Shanon entropy (ES), and we analysed indices in the frequency (LF and HF in ms2 and normalised units – nu – and LF/HF ratio) and time domains (SDNN and RMSSD), through analysis of 1000 R–R intervals, captured by a heart rate monitor.

There were reduced values (p<0.05) for individuals with type 1 diabetes mellitus compared with healthy subjects in the following indices: DET, REC, ES, RMSSD, SDNN, LF (ms2), and HF (ms2). In relation to the recurrence plot, subjects with type 1 diabetes mellitus demonstrated lower recurrence and greater variation in their plot, inter-group and intra-group, respectively.

Young subjects with type 1 diabetes mellitus have autonomic nervous system behaviour that tends to randomness compared with healthy young subjects. Moreover, this behaviour is related to reduced sympathetic and parasympathetic activity of the autonomic nervous system.

Echocardiography is the modality of choice for the diagnosis and serial follow-up of aortic arch pathology. In this article, we review the types of obstruction of the aortic arch, various classification schemes of coarctation of the aorta and interrupted aortic arch, methodology for optimal echocardiographic imaging of the aortic arch, and key echocardiographic measurements for accurate diagnosis of obstruction and hypoplasia of the aortic arch. Finally, we will discuss the limitations of echocardiography in optimal imaging of the aortic arch and the use of other non-invasive imaging modalities such as CT or MRI to provide additional information in these cases.

Coarctation of the aorta is the more common lesion of the two, with an estimated incidence of four in every 10,000 live births in the United States of America. Interrupted aortic arch is rarer, with an incidence of 19 per one million live births.1 There is a spectrum of pathology of obstruction of the aortic arch, ranging from coarctation of the aorta with and without hypoplasia of the arch to interrupted aortic arch. Both these lesions are frequently encountered in congenital cardiology practice, and will be discussed in the remainder of this article. Obstruction of the aortic arch in the setting of hypoplastic left heart structures or atresia of the aortic valve is beyond the scope of this review and will not be discussed further.

In 2007, the American Heart Association modified the infective endocarditis prophylaxis guidelines by limiting the use of antibiotics in patients with cardiac conditions associated with the highest risk of adverse outcomes after infective endocarditis. Our objective was to evaluate current practice for infective endocarditis prophylaxis among paediatric cardiologists.

A web-based survey focussing on current practice, describing the use of antibiotics for infective endocarditis prophylaxis in various congenital and acquired heart diseases, was distributed via e-mail to paediatric cardiologists. The survey was kept anonymous and was distributed twice.

Data from 253 participants were analysed. Most paediatric cardiologists discontinued infective endocarditis prophylaxis in patients with simple lesions such as small ventricular septal defect, patent ductus arteriosus, and bicuspid aortic valve without stenosis or regurgitation; however, significant disagreement persists in prescribing infective endocarditis prophylaxis in certain conditions such as rheumatic heart disease, Fontan palliation without fenestration, and the Ross procedure. Use of antibiotic prophylaxis in certain selected conditions for which infective endocarditis prophylaxis has been indicated as per the current guidelines varies from 44 to 83%. Only 44% follow the current guidelines exclusively, and 34% regularly discuss the importance of oral hygiene with their patients at risk for infective endocarditis.

Significant heterogeneity still persists in recommending infective endocarditis prophylaxis for several cardiac lesions among paediatric cardiologists. More than half of the participants (56%) do not follow the current guidelines exclusively in their practice. Counselling for optimal oral health in patients at risk for infective endocarditis needs to be optimised in the current practice.

To determine longitudinal changes in psychopathology in a cohort of patients 30–43 years after their first cardiac surgery for Congenital Heart Disease (CHD) in childhood, to compare outcomes of the 30- to 43-year follow-up with normative data, and to identify medical predictors for psychopathology.

This study is the third follow-up of this cohort. The first and second follow-ups of this same cohort were conducted in 1990 and 2001, respectively. At all three follow-ups, psychopathology was assessed with standardised, parallel questionnaires. In 2011, subjective health status was assessed by the Short Form-36. Medical predictor variables were derived from medical examinations and medical records.

In this third follow-up, a total of 252 patients participated. Of these, 152 patients participated in all three follow-ups. Over a 30-year period, proportions of patients showing psychopathology decreased significantly.

At the 30- to 43-year follow-up, overall outcomes on psychopathology for the CHD sample were similar or even better compared with normative groups. Subjective health status was also better compared with normative data.

No differences were found between cardiac diagnostic groups. Medical variables that predicted the course of psychopathology over time were as follows: the scar, as judged by the patient, results of the first cardiac surgery, and the number of hospitalisations.

Over a 30-year period, psychopathology decreased in patients with CHD. Levels of psychopathology in these patients, who are now aged between 30 and 54 years, were comparable or even better than normative data.

Little data are published about right ventricular diastolic performance in patients with critical pulmonary valve stenosis after balloon pulmonary valvuloplasty thus far.

A total of 44 patients with isolated critical pulmonary valve stenosis who had undergone balloon valvuloplasty with haemodynamic recordings were enrolled to the study; 33 patients who came for follow-up underwent further imaging by echocardiography after 6 months and their right ventricular functional parameters were compared with 33 control patients of the same age and sex. Out of 33 patients, 21 underwent cardiac MRI with late gadolinium enhancement to assess the presence of right ventricular fibrosis.

The right ventricular systolic pressure (p<0.0001) and right ventricular outflow tract gradient (p<0.0001) decreased acutely (p<0.0001) after balloon valvuloplasty. During follow-up, M-mode left ventricular end diastolic dimension (p<0.001) and end systolic dimension increased (p<0.001), whereas right ventricular end diastolic dimension decreased (p<0.001). Compared with controls, patients (n=33) had significantly reduced tricuspid annular Ea and higher E/Ea (p<0.001). Right ventricular systolic dysfunction was also suggested by reduced tricuspid annular systolic velocity (p<0.001). Late gadolinium enhancement was demonstrated in 13 out of 21 patients with restrictive physiology, which involves the anterior right ventricular outflow tract, anterior wall, and inferior wall. The right ventricular late gadolinium enhancement score correlated positively with age (r=0.7, p<0.001) and right ventricular mass index (r=0.52, p<0.001).

The persistence of right ventricular diastolic dysfunction after relief of chronic pressure overload of critical pulmonary valve stenosis suggests that a factor – other than increase in afterload – is involved in this physiology. Fibrosis is the most likely factor responsible for persistence of restrictive physiology as documented by late gadolinium enhancement.

Non-invasive peripheral pulse oximeters are routinely used to measure oxyhaemoglobin saturation (SpO2) in cyanotic congenital heart disease. These probes are calibrated in healthy adult volunteers between arterial saturations of ~75 and 100%, using the gold standard of co-oximetry on arterial blood samples. There are little data to attest their accuracy in cyanotic congenital heart disease.

We aimed to assess the accuracy of a commonly used probe in children with cyanotic congenital heart disease.

Children with cyanotic congenital heart disease admitted to the Paediatric Intensive Care Unit with an arterial line in situ were included to our study. Prospective simultaneous recordings of SpO2, measured by the Masimo SET® LNCS Neo peripheral probe, and co-oximeter saturations (SaO2) measured by arterial blood gas analysis were recorded.

A total of 527 paired measurements of SpO2 and SaO2 (using an ABL800 FLEX analyser) in 25 children were obtained. The mean bias of the pulse oximeter for all SaO2 readings was +4.7±13.8%. The wide standard deviation indicates poor precision. This mean bias increased to +7.0±13.7% at SaO2 recordings <75%. The accuracy root mean square of the recordings was 3.30% across all saturation levels, and this increased to 4.98% at SaO2 <75%.

The performance of the Masimo SET® LNCS Neo pulse oximeter is poor when arterial oxyhaemoglobin saturations are below 75%. It tends to overestimate saturations in children with cyanotic congenital heart disease. This may have serious implications for clinical decisions.