The impact of COVID-19 on a South African pediatric cardiac service: implications and insights into service capacity.

Background and Objectives: The Western Cape public pediatric cardiac service is under-resourced. COVID-19 regulations are likely to have long-term effects on patient care but may provide insight into service capacity requirements. As such, we aimed to quantify the impact of COVID-19 regulations on this service. Methods: An uncontrolled retrospective pre-post study of all presenting patients over two, one-year periods; the pre-COVID-19 period (01/03/2019-29/02/2020) and the peri-COVID-19 period (01/03/2020-28/02/2021). Results: Admissions decreased by 39% (624 to 378) and cardiac surgeries decreased by 29% (293 to 208) in the peri-COVID-19 period, with an increase in urgent cases (PR:5.99, 95%CI:3.58-10.02, p < 0.001). Age at surgery was lower in the peri-COVID-19 period, 7.2 (2.4-20.4) vs. 10.8 (4.8-49.2) months (p < 0.05), likewise, age at surgery for transposition of the great arteries (TGA) was lower peri-COVID-19, 15 (IQR:11.2-25.5) vs. 46 (IQR:11-62.5) days (p < 0.05). Length of stay 6 (IQR:2-14) vs. 3 days (IQR:1-9) (p < 0.001), complications (PR:1.21, 95%CI:1.01-1.43, p < 0.05), and age-adjusted delayed-sternal-closure rates (PR:3.20, 95%CI:1.09-9.33, p < 0.05) increased peri-COVID-19. Conclusion: Cardiac procedures were significantly reduced in the peri-COVID-19 period which will have implications on an overburdened service and ultimately, patient outcomes. COVID-19 restrictions on elective procedures freed capacity for urgent cases, demonstrated by the absolute increase in urgent cases and significant decrease in age at TGA-surgery. This facilitated intervention at the point of physiological need, albeit at the expense of elective procedures, and also revealed insights into capacity requirements of the Western Cape. These data emphasize the need for an informed strategy to increase capacity and reduce backlog whilst ensuring minimal morbidity and mortality.Graphical Abstract.

Mucoepidermoid carcinoma of the bronchus in two children: Case reports.

Childhood mucoepidermoid carcinomas (MEC) of the bronchus are rare. They present with non-specific symptoms and signs making diagnosis delayed. We present two children with bronchial MEC managed in a tertiary children's hospital in Cape Town, South Africa. The first was a 11-year male with recurrent haemoptysis and the second child was a 6-year female with recurrent unifocal pneumonia. Chest CT scan and bronchoscopy with biopsy confirmed the diagnosis. Both patients underwent treatment, including surgery and are doing well. It is important to exclude endobronchial lesions when children present with recurrent respiratory symptoms, since early diagnosis will enable lung-sparing treatment.

Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects.

BACKGROUND: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidity and mortality worldwide. Although the etiology of CHD is poorly understood, genetic factors including copy number variants (CNVs) contribute to the risk of CHD in individuals of European ancestry. The presence of rare CNVs in African CHD populations is unknown. This study aimed to identify pathogenic and likely pathogenic CNVs in South African patients with CHD. METHODS: Genotyping was performed on 90 patients with nonsyndromic CHD using the Affymetrix CytoScan HD platform. These data were used to identify large, rare CNVs in known CHD-associated genes and candidate genes. RESULTS: We identified eight CNVs overlapping known CHD-associated genes (GATA4, CRKL, TBX1, FLT4, B3GAT3, NSD1) in six patients. The analysis also revealed CNVs encompassing five candidate genes likely to play a role in the development of CHD (DGCR8, KDM2A, JARID2, FSTL1, CYFIP1) in five patients. One patient was found to have 47, XXY karyotype. We report a total discovery yield of 6.7%, with 5.6% of the cohort carrying pathogenic or likely pathogenic CNVs expected to cause the observed phenotypes. CONCLUSIONS: In this study, we show that chromosomal microarray is an effective technique for identifying CNVs in African patients diagnosed with CHD and have demonstrated results similar to previous CHD genetic studies in Europeans. Novel potential CHD genes were also identified, indicating the value of genetic studies of CHD in ancestrally diverse populations.

PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial Results.

Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for southern Africa. This will facilitate research into the epidemiology and genetic determinants of CHD in the region. This paper introduces the PROTEA project, characterizes its initial cohort, from the Western Cape Province of South Africa, and compares the proportion or "cohort-prevalences" of CHD-subtypes with international findings. Methods: PROTEA is a prospective multicenter CHD registry and biorepository. The initial cohort was recruited from seven hospitals in the Western Cape Province of South Africa from 1 April 2017 to 31 March 2019. All patients with structural CHD were eligible for inclusion. Descriptive data for the preliminary cohort are presented. In addition, cohort-prevalences (i.e., the proportion of patients within the cohort with a specific CHD-subtype) of 26 CHD-subtypes in PROTEA's pediatric cohort were compared with the cohort-prevalences of CHD-subtypes in two global birth-prevalence studies. Results: The study enrolled 1,473 participants over 2 years, median age was 1.9 (IQR 0.4-7.1) years. Predominant subtypes included ventricular septal defect (VSD) (339, 20%), atrial septal defect (ASD) (174, 11%), patent ductus arteriosus (185, 11%), atrioventricular septal defect (AVSD) (124, 7%), and tetralogy of Fallot (121, 7%). VSDs were 1.8 (95% CI, 1.6-2.0) times and ASDs 1.4 (95% CI, 1.2-1.6) times more common in global prevalence estimates than in PROTEA's pediatric cohort. AVSDs were 2.1 (95% CI, 1.7-2.5) times more common in PROTEA and pulmonary stenosis and double outlet right ventricle were also significantly more common compared to global estimates. Median maternal age at delivery was 28 (IQR 23-34) years. Eighty-two percent (347/425) of mothers used no pre-conception supplementation and 42% (105/250) used no first trimester supplements. Conclusions: The cohort-prevalence of certain mild CHD subtypes is lower than for international estimates and the cohort-prevalence of certain severe subtypes is higher. PROTEA is not a prevalence study, and these inconsistencies are unlikely the result of true differences in prevalence. However, these findings may indicate under-diagnosis of mild to moderate CHD and differences in CHD management and outcomes. This reemphasizes the need for robust CHD epidemiological research in the region.

A Patient-Specific CFD Pipeline Using Doppler Echocardiography for Application in Coarctation of the Aorta in a Limited Resource Clinical Context.

Congenital heart disease (CHD) is the most common birth defect globally and coarctation of the aorta (CoA) is one of the commoner CHD conditions, affecting around 1/1800 live births. CoA is considered a CHD of critical severity. Unfortunately, the prognosis for a child born in a low and lower-middle income country (LLMICs) with CoA is far worse than in a high-income country. Reduced diagnostic and interventional capacities of specialists in these regions lead to delayed diagnosis and treatment, which in turn lead to more cases presenting at an advanced stage. Computational fluid dynamics (CFD) is an important tool in this context since it can provide additional diagnostic data in the form of hemodynamic parameters. It also provides an in silico framework, both to test potential procedures and to assess the risk of further complications arising post-repair. Although this concept is already in practice in high income countries, the clinical infrastructure in LLMICs can be sparse, and access to advanced imaging modalities such as phase contrast magnetic resonance imaging (PC-MRI) is limited, if not impossible. In this study, a pipeline was developed in conjunction with clinicians at the Red Cross War Memorial Children's Hospital, Cape Town and was applied to perform a patient-specific CFD study of CoA. The pipeline uses data acquired from CT angiography and Doppler transthoracic echocardiography (both much more clinically available than MRI in LLMICs), while segmentation is conducted via SimVascular and simulation is realized using OpenFOAM. The reduction in cost through use of open-source software and the use of broadly available imaging modalities makes the methodology clinically feasible and repeatable within resource-constrained environments. The project identifies the key role of Doppler echocardiography, despite its disadvantages, as an intrinsic component of the pipeline if it is to be used routinely in LLMICs.

The patient encounter index: a novel method of measuring clinical workload in a paediatric cardiology service.

Technological advances have led to better patient outcomes and the expansion of clinical services in paediatric cardiology. This expansion creates an ever-growing workload for clinicians, which has led to workflow and staffing issues that need to be addressed. The objective of this study was the development of a novel tool to measure the clinical workload of a paediatric cardiology service in Cape Town, South Africa: The patient encounter index is a tool designed to quantify clinical workload. It is defined as a ratio of the measured duration of clinical work to the total time available for such work. This index was implemented as part of a prospective cross-sectional study design. Clinical workload data were collected over a 10-day period using time-and-motion sampling. Clinicians were contractually expected to spend 50% of their daily workload on patient care. The median patient encounter index for the Western Cape Paediatric Cardiac Service was 0.81 (range 0.19-1.09), reflecting that 81% of total contractual working time was spent on clinical activities. This study describes the development and implementation of a novel tool for clinical workload quantification and describes its application to a busy paediatric cardiology service in Cape Town, South Africa. This tool prospectively quantifies clinical workload which may directly influence patient outcomes. Implementation of this novel tool in the described setting clearly demonstrated the excessive workload of the clinical service and facilitated effective motivation for improved allocation of resources.

Congenital Heart Disease in Low- and Lower-Middle-Income Countries: Current Status and New Opportunities.

PURPOSE OF REVIEW: The paper summarises the most recent data on congenital heart disease (CHD) in low- and lower-middle-income countries (LLMICs). In addition, we present an approach to diagnosis, management and interventions in these regions and present innovations, research priorities and opportunities to improve outcomes and develop new programs. RECENT FINDINGS: The reported birth prevalence of CHD in LLMICs is increasing, with clear evidence of the impact of surgical intervention on the burden of disease. New methods of teaching and training are demonstrating improved outcomes. Local capacity building remains the key. There is a significant gap in epidemiological and outcomes data in CHD in LLMICs. Although the global agenda still does not address the needs of children with CHD adequately, regional initiatives are focusing on quality improvement and context-specific interventions. Future research should focus on epidemiology and the use of innovative thinking and partnerships to provide low-cost, high-impact solutions.

Uneventful survival of a rural child after penetrating cardiac injury by a thorn: a case report.

BACKGROUND: Paediatric penetrating cardiac injury is extremely rare, precluding published management guidelines, therefore warranting a case-by-case approach with learning points gleaned from each case. CASE SUMMARY: A 7-year-old boy presented to a rural hospital with a stab wound to the chest by a Withaak (Vachellia tortilis) thorn. The patient was haemodynamically stable on presentation, but a 2 cm subcutaneous, pulsatile mass was present at the cardiac apex. Echocardiography revealed a foreign body penetrating from the apex into the heart, with evidence for a fistula between a cardiac chamber and the pulsatile mass. Angiography confirmed the existence of the fistula between the right ventricle (RV) and the pulsatile mass. A controlled extraction under general anaesthaesia via median sternotomy was performed in-theatre, with blood products and cardiac bypass on standby. The patient recovered without complications and was discharged after 4 days. DISCUSSION: Our case illustrates the limitations of echocardiography in identifying the precise anatomical definition of penetrating cardiac injuries. Angiography is therefore indicated in such cases. The injury to the RV and the haemostatic effects of the in situ thorn were favourable prognostic factors. We believe that the mortality risk reduction of extraction under full control warrants the minor morbidity of a median sternotomy.

A novel approach to ductal spasm during percutaneous device occlusion of patent ductus arteriosus.

Ductal spasm is a rare yet important complication of device occlusions of patent ductus arteriosus. Spasm may result in failure of the procedure, under-sizing of the device, or embolisation of the implanted device as the spasm resolves after the procedure. We describe a novel protocol that rapidly and completely reversed the spasm in eight prematurely born infants who experienced ductal spasm during cardiac catheterisations for patent ductus arteriosus occlusion. In total, eight infants born between 25 and 34 weeks of gestation presented for transcatheter patent ductus arteriosus occlusion between 13 and 87 months of age. All eight patients experienced ductal spasm either immediately before, during, or soon after induction of anaesthesia or only after entering the ductus arteriosus with a catheter. After detection of the spasm, the anaesthetist, in each case, changed the mode of anaesthesia from inhaled sevoflurane to total intravenous anaesthesia with propofol, reduced the inhaled oxygen fraction to 21%, and initiated a continuous intravenous infusion of prostaglandin E1. The first two steps (total intravenous anaesthesia and FiO2 0.21) resulted in only partial relaxation of the spasm. Complete relaxation was attained after intravenous prostaglandin E1 infusions of only 10-15 minutes' duration. While maintaining this protocol, six ducti were successfully occluded and two were considered to be unsuitable for device occlusion and were referred for surgery. Ductal spasm during transcatheter occlusion may be reliably resolved and the procedure safely completed by a simple anaesthetic protocol, including the continuous infusion of intravenous prostaglandin E1.

Chest pain on exertion after the Takeuchi repair of anomalous origin of the left coronary artery: right ventricular ischemia due to severe pulmonary outflow tract obstruction.

Right ventricular (RV) outflow obstruction (in the form of valvar or supravalvular pulmonary stenosis) is a well-known complication of the Takeuchi procedure. We describe a 13-year-old male with exertional chest pain, pulmonary stenosis, RV hypertrophy, and consequent RV ischemia, which was confirmed using stress echocardiography and single-photon emission tomography.

Kawasaki disease preceding haemophagocytic lymphohistiocytosis: challenges for developing world practitioners.

Kawasaki disease (KD) is a recognised precipitant of haemophagocytic lymphohistiocytosis (HLH). Although KD has been previously described in the developing world, there are no reported cases of KD preceding HLH. We report a case of a child with a persistent rash and unremitting fever consistent with the diagnosis of KD, who was found to have HLH, after intravenous gamma globulin failed to produce a clinical response. The diagnosis was made using the revised diagnostic criteria for HLH from the Histiocyte Society (1994). She fulfilled six of the eight clinical and laboratory criteria needed to make the diagnosis.