To examine the strengths and opportunities for improvement of current home care education practices to inform the development of the Home Care for Heart Health intervention, and to develop a web-based intervention for parents and clinicians with complimentary print materials that could provide the right education at the right time to foster a safer transition from hospital to home.

An inter-professional focus group of parents, clinicians, and designers was formed to co-create a home care education intervention for parents of children with congenital heart disease (CHD) and their care team. We used the Integrated New Product Development process model created by Jonathon Cagan and Craig Vogel at Carnegie Mellon University to develop the intervention. This process model is a way of thinking that combines horizontal and inter-disciplinary teams, stakeholder-centric focus, and a system of qualitative discovery and development evolving towards quantitative methods of refinement.

Our team developed the Home Care for Heart Health intervention. The evidenced-based intervention includes a quick reference guide for parents of children with CHD, an accompanying app, family-friendly pathways, and clinician education.

Using an inter-professional approach, our team of clinicians, parents, and design experts were able to co-create a clinician–parent home care education intervention with broad application and lifelong relevance to the Congenital Heart Disease Community.

Our intervention has the potential to be used as a model for other home care education interventions for parents of children with chronic illnesses.

The study was retrospective over 8 years (2010–2017), with review of patient records and analysis of downloads from the implantable cardiac devices to the virtual clinics.

A total of 75 patients were set up for virtual clinic follow-up during the study period, 94.5% with a pacemaker and 5.5% an implantable cardioverter defibrillator. The majority (76.8%) had an epicardial system. Data on lead impedance, battery longevity, programmed parameters, detected arrhythmias, percentage pacing and delivered defibrillator therapies were obtainable by download. Lead threshold measurements were obtainable via download in 83.7% of the devices, including epicardial systems. No concerning device issue was missed. In 15% of patients a major issue was detected remotely, including three patients with lead fractures. The virtual clinics resulted in fewer hospital attendances while enhancing monitoring and enabling more frequent device checks. The vast majority (91.4%) of families who responded to a questionnaire were satisfied with the virtual clinic follow-up.

Virtual clinics allow safe and effective follow-up of children with pacemakers and implantable cardioverter defibrillators, including those with epicardial systems and are associated with high levels of parent satisfaction.

While echocardiographic parameters are used to quantify ventricular function in infants with single ventricle physiology, there are few data comparing these to invasive measurements. This study correlates echocardiographic measures of diastolic function with ventricular end-diastolic pressure in infants with single ventricle physiology prior to superior cavopulmonary anastomosis.

Data from 173 patients enrolled in the Pediatric Heart Network Infant Single Ventricle enalapril trial were analysed. Those with mixed ventricular types (n = 17) and one outlier (end-diastolic pressure = 32 mmHg) were excluded from the analysis, leaving a total sample size of 155 patients. Echocardiographic measurements were correlated to end-diastolic pressure using Spearman’s test.

Median age at echocardiogram was 4.6 (range 2.5–7.4) months. Median ventricular end-diastolic pressure was 7 (range 3–19) mmHg. Median time difference between the echocardiogram and catheterisation was 0 days (range −35 to 59 days). Examining the entire cohort of 155 patients, no echocardiographic diastolic function variable correlated with ventricular end-diastolic pressure. When the analysis was limited to the 86 patients who had similar sedation for both studies, the systolic:diastolic duration ratio had a significant but weak negative correlation with end-diastolic pressure (r = −0.3, p = 0.004). The remaining echocardiographic variables did not correlate with ventricular end-diastolic pressure.

In this cohort of infants with single ventricle physiology prior to superior cavopulmonary anastomosis, most conventional echocardiographic measures of diastolic function did not correlate with ventricular end-diastolic pressure at cardiac catheterisation. These limitations should be factored into the interpretation of quantitative echo data in this patient population.

The SCN5A gene is implicated in many arrhythmogenic and cardiomyopathic processes. We identified a novel SCN5A variant in a family with significant segregation in individuals affected with progressive sinus and atrioventricular nodal disease, atrial arrhythmia, dilated cardiomyopathy, and early sudden cardiac arrest.

A patient pedigree was created following the clinical evaluation of three affected individuals, two monozygotic twins and a paternal half-brother, which lead to the evaluation of a paternal half-sister (four siblings with the same father and three mothers) all of whom experienced varying degrees of atrial arrhythmias, conduction disease, and dilated cardiomyopathy in addition to a paternal history of unexplained death in his 50s with similar autopsy findings. The index male underwent sequencing of 58 genes associated with cardiomyopathies. Sanger sequencing was used to provide data for bases with insufficient coverage and for bases in some known regions of genomic segmental duplications. All clinically significant and novel variants were confirmed by independent Sanger sequencing.

All relatives tested were shown to have the same SCN5A variant of unknown significance (p. Asp197His) and the monozygotic twins shared a co-occurring NEXN (p. Glu575*). Segregation analysis demonstrates likely pathogenic trait for the SCN5A variant with an additional possible role for the NEXN variant in combination.

There is compelling clinical evidence suggesting that the SCN5A variant p. Asp197His may be re-classified as likely pathogenic based on the segregation analysis of our family of interest. Molecular mechanism studies are pending.

The purpose of this study was to assess fetal cardiac function in normal fetuses (control group) compared to those who are exposed to gestational diabetes mellitus using different echocardiographic measurements, and to explore the application of left atrial shortening fraction in determination of fetal diastolic function with gestational diabetes mellitus.

A total of 50 women with gestational diabetes and 50 women with a healthy pregnancy were included in the study. Fetal echocardiography was performed and structural as well as functional fetal cardiac parameters were measured. Data were compared between with or without fetal myocardial hypertrophy and the control group.

In the study group, out of 50 fetuses of gestational diabetic mothers, 18 had myocardial hypertrophy and 32 had normal septal thickness. Gestational age at time of examination did not differ significantly between the control and gestational diabetes group (p = 0.55). Mitral E/A ratio was lower in gestational diabetes group as compared to the control (p < 0.001). Isovolumetric relaxation and contraction times and myocardial performance index were greater in fetuses of gestational diabetic mothers (p < 0.001). In fetuses of gestational diabetic mothers with myocardial hypertrophy, left atrial shortening fraction was lower as compared to those without myocardial hypertrophy and those of the control group (p < 0.001).

The results of this study suggest that fetuses of gestational diabetic mothers have altered cardiac function even in the absence of septal hypertrophy, and that left atrial shortening fraction can be used as a reliable alternate parameter in the assessment of fetal diastolic function.

Chest pain is the second most common reason for referral to paediatric cardiologists after benign heart murmurs. Aetiology frequently depends on non-cardiac reasons. In addition, individuals may experience non-cardiac chest pain which is idiopathic or of unknown origin. The aim of this study is to examine psychological symptoms in children and adolescents with medically unexplained chest pain.

A total of 76 patients (ages 8–18 years) were included in the study, who were referred to the paediatric cardiology department with the complaint of chest pain but did not have any detected cardiac aetiology or any other organic causes of chest pain. The control group was composed of 51 healthy volunteers. Self-evaluation scales were given to both groups which included Beck Anxiety Inventory and Children’s Depression Inventory. Also parents of both groups completed the Conner’s Parent Rating Scale for assessment of Attention-deficit/hyperactivity disorder.

Anxiety scores of the non-cardiac chest pain group were significantly higher compared to controls. No significant differences were found between patients and controls in terms of attention-deficit/hyperactivity disorder and depression scores. In patient group, patterns were similar for boys and girls and for children and adolescents; except girls scored significantly higher than boys in children’s depression inventory.

In children and adolescents, non-cardiac chest pain is associated with increased levels of anxiety. These results show the importance of psychiatric evaluation in non-cardiac chest pain patients. Larger controlled studies are needed to determine the prevalence and impact of attention-deficit/hyperactivity disorder and depression in children and adolescents with non-cardiac chest pain.

The aim of this study is to investigate the prevalence of subclinical rheumatic heart disease in schoolchildren aged 5–18 by using portable echocardiography in Ankara, Turkey.

The portable echocardiography screening was performed by a paediatric cardiologist for all of the cases. The mean age of 2550 healthy students was 11.09 ± 2.91 years (1339 females, 1211 males) in three private and three public schools. Echocardiographic studies were assessed according to 2012 World Heart Federation criteria for rheumatic heart disease.

After reviewing the echocardiographic images, 73 students were reevaluated by an advanced echocardiography device in the university hospital. Evidence of definite subclinical rheumatic heart disease was found in 39 students (15/1000) and borderline rheumatic heart disease in 20 students (8/1000). No children had any clinical symptoms. The mean age of children diagnosed with rheumatic heart disease and borderline rheumatic heart disease is 12.4 and 11.4 years, respectively. The risk of rheumatic heart disease was found to be increased sevenfold in girls between 14 and 18 years. We surprisingly observed that the prevalence of definite rheumatic heart disease in private schools located in high-income areas of Ankara was higher than that in public schools.

This is the first and largest single-centred echocardiographic screening study for subclinical rheumatic heart disease in Turkish schoolchildren. The frequency of rheumatic heart disease has been found to be 15/1000. This finding is similar to those of recent echocardiographic screening studies performed in middle and high-risk populations. We conclude that to decrease the burden of rheumatic heart disease, echocardiographic screening studies are necessary, and long-term follow-up of children with echocardiographically diagnosed subclinical rheumatic heart disease is needed.

We aimed to describe the profile and treatment outcomes of infant and childhood endocarditis at our facilities.

This is a retrospective analysis of infants and children with endocarditis at two public sector hospitals in the Western Cape Province of South Africa over a 5-year period. Patients with “definite” and “possible” endocarditis according to Modified Duke Criteria were included in the review.

Forty-nine patients were identified for inclusion; 29 had congenital heart disease as a predisposing condition; 64% of patients met “definite” and 36% “possible” criteria. The in-hospital mortality rate was 20%; 53% of patients underwent surgery with a post-operative mortality rate of 7.7%. The median interval from diagnosis to surgery was 20 days (interquartile range, 9–47 days). Valve replacement occurred in 28% and valve repair in 58%. There was a significant reduction in valvular dysfunction in patients undergoing surgery and only a marginal improvement in patients treated medically. Overall, 43% of patients had some degree of residual valvular dysfunction.

Endocarditis is a serious disease with a high in-hospital mortality and presents challenges in making an accurate diagnosis. Despite a significant reduction in valvular dysfunction, a portion of patients had residual valvular dysfunction. Early surgery is associated with a lower mortality rate, but a higher rate of valve replacement compared with delayed surgery.