Congenital pulmonary vein stenosis at an African tertiary care centre over a 25-year period

Background: Congenital pulmonary vein stenosis (PVS) is a rare condition, which results from abnormal embryological incorporation of the common pulmonary vein into the left atrium.Methods: A retrospective descriptive case series study was conducted with the aim of describing the characteristics and outcome of children with congenital PVS at an African tertiary care centre over a 25-year period. A computerised paediatric cardiology database initiated in the early 1990s was sourced to identify patients, following which clinical records were retrieved and reviewed.Results: Five cases of congenital PVS were identified between January 1990 and January 2016 and accounted for 0.0007% of all congenital heart defects seen at the centre during the study period. The age at diagnosis ranged from 22 months - 13 years. Most patients presented with respiratory symptoms, with 2 patients presenting with recurrent haemoptysis. The diagnosis of PVS was confirmed by cardiac catheterisation and pulmonary angiography in all patients. All cases were right-sided unilateral PVS and all were associated with one or more congenital heart defects. Mild pulmonary hypertension and elevated capillary wedge pressures were found in all patients. Only one patient underwent specific surgery to relieve the PVS, which subsequently recurred. Another patient underwent a lobectomy following recurrent haemoptysis, but subsequently died of sepsis.Conclusion: Congenital PVS is a rare condition often associated with other congenital cardiac defects. Respiratory symptoms are common at presentation, with haemoptysis forming part of the presenting clinical spectrum, which is in keeping with the published literature. Elevated pulmonary artery pressures and increased ipsilateral pulmonary capillary wedge pressures are a common finding at catheterisation

Tetralogy of Fallot with absent pulmonary valve syndrome: A 34-year African single centre experience

Background: Absent pulmonary valve syndrome (APVS) is most commonly associated with Tetralogy of Fallot (TOF). TOF with APVS is characterised by features of TOF with either rudimentary ridges or complete absence of pulmonary valve tissue. This is often associated with varying degrees of pulmonary stenosis and severe pulmonary regurgitation with massive dilatation of the proximal branch pulmonary arteries, causing compression of the tracheobronchial tree. Hence, respiratory symptoms are a common presenting feature.Methods: Cases of TOF with APVS were extracted from the paediatric cardiology database at Chris Hani Baragwanath Academic Hospital (CHBAH) for January 1981 - April 2016.Results: A total of 15 patients with TOF and APVS were seen at CHBAH over the 34-year study period. TOF with APVS comprised 3% of all TOF patients. Ten (67%) patients presented before 1 year of age. The majority of patients (67%) had respiratory symptoms as their cause of presentation, of which 6 (40%) were infants. Fourteen (93%) patients were described to have the characteristic to-and-fro murmur at presentation. Five patients (33%) were suspected of having 22q11.2 deletion syndrome, but only 4 were tested and 2 were found to be positive. A third of patients underwent surgical intervention and 4 of the 15 patients (27%) were known to be alive at 10 years of age.Conclusions: TOF with APVS compromised 3% of all TOF patients, correlating with the literature. It is associated with the 22q11.2 deletion syndrome and was suspected in 33% of patients. TOF with APVS should be strongly considered in a child less than 1 year presenting with respiratory symptoms and a characteristic to-andfro murmur

Direct and indirect effects of the COVID-19 pandemic on children with cardiovascular disease

Coronavirus 2 (SARS-CoV-2) the causative agent of what we now know as “Coronavirus Disease 2019” (COVID-19), is the most serious global health crisis of our generation, with a significant and far-reaching impact upon health, economy, social cohesion and emotional and mental wellbeing. Although children do not bear the brunt of direct mortality, they are significantly affected in terms of morbidity and interruption to access, continuity and complexity of care, as well as the indirect social and financial effects impacting on their health outcomes. In this review we present some of the most recent data relevant to children with congenital and acquired heart disease, and consider some of the cardiac presentations noted. We discuss the necessary protections to staff in the echo and cardiac catherisation laboratories and present some general recommendations to general paediatricians and communities to ensure the continued health of our patients. Finally, we encourage ongoing registries and biorepositories and support clinical trials to ensure that children also receive new technologies and therapeutics as these become available

Cardiovascular magnetic resonance findings in repaired anomalous left coronary artery to pulmonary artery connection (ALCAPA)

Background: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare coronary artery anomaly. This study shows the role of cardiovascular magnetic resonance (CMR) in assessing young patients following surgical repair of ALCAPA.Methods: 6 patients, aged 9-21 years, with repaired ALCAPA (2 Tackeuchi method, 4 direct re-implantation) underwent CMR because of clinical suspicion of myocardial ischemia. Imaging used short and long axis cine images (assess ventricular function), late-gadolinium enhancement (LGE) (detect segmental myocardial fibrosis), adenosine stress perfusion (detect reversible ischaemia) and 3D whole-heart imaging (visualize proximal coronary arteries).Results: The left ventricular (LV) global systolic function was preserved in all patients (mean LV ejection fraction = 62.7% +/- 4.23%). The LV volumes were within the normal ranges, (mean indexed LVEDV = 75.4 +/- 3.5 ml/m(2), LVESV = 31.6 +/- 9.4 ml/m(2)). In 1 patient, hypokinesia of the anterior segments was visualized. Five patients showed subendocardial LGE involving the basal, antero-lateral wall and the anterior papillary muscle. Three patients had areas of reversible ischemia. In these 3, 3D whole-heart MRA showed that the proximal course of the left coronary artery was occluded (confirmed with cardiac catheterisation).Conclusions: CMR is a good, non-invasive, radiation-free investigation in the post-surgical evaluation of ALCAPA. In referred patients we show that basal, antero-lateral sub-endocardial myocardial fibrosis is a characteristic finding. Furthermore, stress adenosine CMR perfusion, can identify reversible ischemia in this group, and was indicative of left coronary artery occlusion

A statistical shape modelling framework to extract 3D shape biomarkers from medical imaging data: assessing arch morphology of repaired coarctation of the aorta

Background Medical image analysis in clinical practice is commonly carried out on 2D image data, without fully exploiting the detailed 3D anatomical information that is provided by modern non-invasive medical imaging techniques. In this paper, a statistical shape analysis method is presented, which enables the extraction of 3D anatomical shape features from cardiovascular magnetic resonance (CMR) image data, with no need for manual landmarking. The method was applied to repaired aortic coarctation arches that present complex shapes, with the aim of capturing shape features as biomarkers of potential functional relevance. The method is presented from the user-perspective and is evaluated by comparing results with traditional morphometric measurements. Methods Steps required to set up the statistical shape modelling analyses, from pre-processing of the CMR images to parameter setting and strategies to account for size differences and outliers, are described in detail. The anatomical mean shape of 20 aortic arches post-aortic coarctation repair (CoA) was computed based on surface models reconstructed from CMR data. By analysing transformations that deform the mean shape towards each of the individual patient’s anatomy, shape patterns related to differences in body surface area (BSA) and ejection fraction (EF) were extracted. The resulting shape vectors, describing shape features in 3D, were compared with traditionally measured 2D and 3D morphometric parameters. Results The computed 3D mean shape was close to population mean values of geometric shape descriptors and visually integrated characteristic shape features associated with our population of CoA shapes. After removing size effects due to differences in body surface area (BSA) between patients, distinct 3D shape features of the aortic arch correlated significantly with EF (r = 0.521, p = .022) and were well in agreement with trends as shown by traditional shape descriptors. Conclusions The suggested method has the potential to discover previously unknown 3D shape biomarkers from medical imaging data. Thus, it could contribute to improving diagnosis and risk stratification in complex cardiac disease

A Non-parametric Statistical Shape Model for Assessment of the Surgically Repaired Aortic Arch in Coarctation of the Aorta: How Normal is Abnormal?

International audienceCoarctation of the Aorta (CoA) is a cardiac defect that requires surgical intervention aiming to restore an unobstructed aortic arch shape. Many patients suffer from complications post-repair, which are commonly associated with arch shape abnormalities. Determining the degree of shape abnormality could improve risk stratification in recommended screening procedures. Yet, traditional morphometry struggles to capture the highly complex arch geometries. Therefore, we use a non-parametric Statistical Shape Model based on mathematical currents to fully account for 3D global and regional shape features. By computing a template aorta of a population of healthy subjects and analysing its transformations towards CoA arch shape models using Partial Least Squares regression techniques, we derived a shape vector as a measure of subject-specific shape abnormality. Results were compared to a shape ranking by clinical experts. Our study suggests Statistical Shape Modelling to be a promising diagnostic tool for improved screening of complex cardiac defects

Utility of Cardiovascular Magnetic Resonance-Derived Wave Intensity Analysis As a Marker of Ventricular Function in Children with Heart Failure and Normal Ejection Fraction

OBJECTIVE: This study sought to explore the diagnostic insight of cardiovascular magnetic resonance (CMR)-derived wave intensity analysis to better study systolic dysfunction in young patients with chronic diastolic dysfunction and preserved ejection fraction (EF), comparing it against other echocardiographic and CMR parameters. BACKGROUND: Evaluating systolic and diastolic dysfunctions in children is challenging, and a gold standard method is currently lacking. METHODS: Patients with presumed diastolic dysfunction [n = 18; nine aortic stenosis (AS), five hypertrophic, and four restrictive cardiomyopathies] were compared with age-matched control subjects (n = 18). All patients had no mitral or aortic incompetence, significant AS, or reduced systolic EF. E/A ratio, E/E′ ratio, deceleration time, and isovolumetric contraction time were assessed on echocardiography, and indexed left atrial volume (LAVi), acceleration time (AT), ejection time (ET), and wave intensity analyses were calculated from CMR. The latter was performed on CMR phase-contrast flow sequences, defining a ratio of the peaks of the early systolic forward compression wave (FCW) and the end-systolic forward expansion wave (FEW). RESULTS: Significant differences between patients and controls were seen in the E/E′ ratio (8.7 ± 4.0 vs. 5.1 ± 1.3, p = 0.001) and FCW/FEW ratio (2.5 ± 1.6 vs. 7.2 ± 4.2 × 10−5 m/s, p < 0.001), as well as—as expected—LAVi (80.7 ± 22.5 vs. 51.0 ± 10.9 mL/m2, p < 0.001). In particular, patients exhibited a lower FCW (2.5 ± 1.6 vs. 7.2 ± 4.2 × 10−5 m/s, p < 0.001) in the face of preserved EF (67 ± 11 vs. 69 ± 5%, p = 0.392), as well as longer isovolumetric contraction time (49 ± 7 vs. 34 ± 7 ms, p < 0.001) and ET/AT (0.35 ± 0.04 vs. 0.27 ± 0.04, p < 0.001). CONCLUSION: This study shows that the wave intensity-derived ratio summarizing systolic and diastolic function could provide insight into ventricular function in children, on top of CMR and echocardiography, and it was here able to identify an element of ventricular dysfunction with preserved EF in a small group of young patients