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A neonate was seen for an evolving broad QRS complex rhythm initially captured at birth as intermittent escape beats on electrocardiogram. Continuous monitoring recorded features mimicking pre-excitation, but closer analysis revealed a regular broad QRS complex rhythm with isorhythmic atrioventricular dissociation, favouring a ventricular source. Treatment with flecainide and propranolol achieved successful control of the incessant arrhythmia with improvement in cardiac function on echocardiogram.

Introduction The Welsh Paediatric Cardiac Telemedicine Service has been delivering teaching, training, and education for healthcare providers for the past 15 years. In addition, telemedicine has been a fundamental tool for providing emergency diagnostic and therapeutic services to children presenting with suspected cardiac diseases to district general hospitals in South Wales. In this paper, we share our unique experience in emergency telemedicine consultations during the COVID-19 pandemic in fetuses, neonates and children who presented with severe cyanosis, respiratory distress, arrhythmias, or cardiovascular compromise. Methods Specialists across Wales worked in partnership with national informatics services, transport services, industry, patients and the third sector to deliver a two-phase project utilising “plan, do, study, act” methodology. Results Building on previous success, the second phase delivered 32 successful telemedicine consultations over seven months utilising the new technology and process. A number of other secondary benefits were also realised including educational, recruitment and multidisciplinary meetings. Conclusion The Welsh Paediatric Cardiology Telemedicine Service has demonstrated its true utility, such that acute cardiac emergencies relating to even ductus-dependent major congenital heart anomalies can be attended and managed in the most effective way by online interactions between a paediatric cardiologist and local paediatricians. This study paves the way for the use of live tele-echocardiography in the diagnosis of major cardiac anomalies without the need for the specialist being physically present. Therefore, this novel modality of telemedicine use can be adopted to help remove health inequalities in communities which are distant from tertiary specialist centres.

Aims Sudden cardiac death (SCD) is the most common mode of death in paediatric hypertrophic cardiomyopathy (HCM). This study describes the implant and programming strategies with clinical outcomes following implantable cardioverter-defibrillator (ICD) insertion in a well-characterized national paediatric HCM cohort. Methods and results Data from 90 patients undergoing ICD insertion at a median age 13 (±3.5) for primary (n = 67, 74%) or secondary prevention (n = 23, 26%) were collected from a retrospective, longitudinal multi-centre cohort of children ( Conclusion In a large national cohort of paediatric HCM patients with an ICD, device and programming strategies varied widely. No particular strategy was associated with inappropriate therapies, missed/delayed therapies, or lead complications.

Aims: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort. Methods and results: Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n=187 (62.1%)], underlying aetiology was non-syndromic (n=138, 45.6%), RASopathy (n=101, 33.6%), or inborn error of metabolism (IEM) (n=49, 16.3%). The most common reasons for presentation were symptoms (n=77, 29.3%), which were more prevalent in those with syndromic disease (n=62, 61.4%, P&nbsp

Objectives To evaluate clinical associations and outcomes of antenatally and postnatally diagnosed Right Aortic Arch (RAA) in South Wales. Methods Retrospective observational study of all RAA patients diagnosed in South Wales between 2000–2018. Results We identified 38 cases of RAA, 68.4% antenatally diagnosed and 31.6% postnatally. Following the introduction of a structured teaching programme of fetal 3 vessels trachea (3VT) views to sonographers in South Wales in 2013, the pick-up rate of antenatally diagnosed RAA has increased, from an average of 1 patient per year prior to 2013, to 9 patients in 2018. 100% of cases were diagnosed antenatally starting from 2015. 57.7% of antenatally diagnosed cases were referred specifically for RAA, and 7.7% for suspicion of abnormal arch, while 66.7% of postnatally diagnosed patients were referred for associated cardiac conditions. Two asymptomatic patients (16.7%) from the postnatal group were referred for cardiac screening after being diagnosed with DiGeorge and 1 patient (8.3%) for RAA symptoms. Associated cardiac conditions were found in 65.8%, while 32.4% had isolated RAA. The most common associated cardiac conditions were pulmonary stenosis or atresia and ventricular septal defect, at 23.7% each, followed by tetralogy of Fallot (18.4%). 3 patients (7.9%) had 22q11 microdeletion, all in the isolated group. One patient had Edwards syndrome and one patient had CHARGE syndrome (2.6%) in non-isolated group. 7 patients (18.4%) had non-cardiac conditions. The branching pattern was described in 34.2% of cases, of which 6 cases (46.15%) being RAA with mirror image branching (MIB) and 4 cases (30.76%) being RAA with aberrant left subclavian artery (ALSCA). 4 cases of MIB compared to 1 case of ALSCA had associated cardiac conditions. 81.6% of patients with RAA were asymptomatic. 6 patients (15.8%) had respiratory symptoms, of which 4 had isolated RAA, with a median age of onset of 2.2 months, and one patient (2.6%) had apnoeic episodes (on prostaglandin for pulmonary atresia). One patient from the isolated group and one patient from the associated group underwent corrective surgery for vascular ring for significant symptoms. The majority of isolated RAA (82.6%) were discharged. Conclusions 3VT view resulted in improved antenatal diagnosis of RAA. Most RAA were associated with other cardiac conditions. RAA were mostly asymptomatic, with few developing respiratory symptoms, with a median onset at 2.2 months of age.

This retrospective study sought to determine the safety and effectiveness of flecainide in children with normal hearts and those with congenital heart disease (CHD) or cardiomyopathy (CMO). Baseline and follow-up data at two pediatric cardiology sites were queried (2000–2015); a total of 175 patients (20 with CHD and two with CMO) receiving flecainide were assessed. When comparing patients with CHD to those with normal hearts, patients with CHD were younger at diagnosis (median age 19 days; IQR 3–157.5 days vs normal heart patients median age 21 days; IQR 7–172 days, p = 0.4) and severe cardiac dysfunction was more prevalent (30% in CHD patients vs 8% in normal heart patients, p = 0.009). Treatment duration did not differ between the two groups (CHD patients median duration 52 weeks; IQR 27–91.5 weeks vs normal heart patients median duration 55 weeks; IQR 32–156 weeks, p = 0.5). Cardiac dysfunction resulting in flecainide discontinuation occurred in two patients (1%), one with CHD and one without. Three patients experienced proarrhythmia (2%) and there were no cardiac arrests during follow-up. There was one death in this cohort in a patient with severe CHD and an RSV infection (

Cytochrome b(5) (b5) and NADH cytochrome b(5) reductase (b5R) detoxify reactive hydroxylamine (NHOH) metabolites of known arylamine and heterocyclic amine mammary carcinogens. The aim of this study was to determine whether NHOH reduction for the prototypic arylamine 4-aminobiphenyl (4-ABP) was present in human breast and to determine whether variability in activity was associated with single nucleotide polymorphisms (SNPs) in the coding, promoter, and 3'untranslated region (UTR) regions of the genes encoding b5 (CYB5A) and b5R (CYB5R3). 4-ABP-NHOH reduction was readily detected in pooled human breast microsomes, with a K(m) (280μM) similar to that found with recombinant b5 and b5R, and a V(max) of 1.12 ± 0.19 nmol/min/mg protein 4-ABP-NHOH reduction varied 75-fold across 70 individual breast samples and correlated significantly with both b5 (80-fold variability) and b5R (14-fold) immunoreactive protein. In addition, wide variability in b5 protein expression was significantly associated with variability in CYB5A transcript levels, with a trend toward the same association between b5R and CYB5R3. Although a sample with a novel coding SNP in CYB5A, His22Arg, was found with low reduction and b5 expression, no other SNPs in either gene were associated with outlier activity or protein expression. We conclude that b5 and b5R catalyze the reduction of 4-ABP-NHOH in breast tissue, with very low activity, protein, and messenger RNA expression in some samples, which cannot be attributed to promoter, coding, or 3'UTR SNPs. Further studies are underway to characterize the transcriptional regulation of CYB5A and CYB5R3 and begin to understand the mechanisms of individual variability in this detoxification pathway.

Hypertension after repair of coarctation of the aorta (CoA) is the outcome variable most closely associated with adverse long-term events such as stroke and myocardial infarction. This study sought to evaluate the outpatient management of casual blood pressure (BP) measurements in young children after early repair of CoA. A retrospective analysis was performed of clinical findings, echocardiographic data, casual BP recordings, and subsequent BP management of 114 children with CoA repair aged 1–13 years during 338 outpatient visits managed at two congenital cardiac centers. Children with associated significant congenital heart disease or corrective surgery after the age of 6 months were excluded from the study. Blood pressure was documented at 233 clinic visits (69%), and systolic BP (SBP) was above 95th percentile for age and sex in 45 instances (19%). This represented an elevated SBP recording for 31 children (27%), with two or more successive elevated recordings for 11 children (10%). Of 12 subjects receiving antihypertensive medication, three had inadequate BP control. Blood pressure is not documented at approximately 30% of outpatient visits of children with repaired CoA. When elevated BP is documented, in all cases no recorded action was taken. This may have significant implications for cardiovascular outcomes in this cohort of patients.