Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review

Background: Congenital heart disease (CHD) is the most common congenital anomaly in children. Over half of the deaths due to CHD occur in the neonatal period. Most children with unrepaired complex heart lesions do not live to celebrate their first birthday. We describe the spectrum of congenital heart disease in Uganda. Methods: We retrospectively reviewed the data of children with CHD who presented to the Uganda Heart Institute (UHI), Mulago Hospital Complex from 2007 to 2014. Results: A total of 4621 children were seen at the UHI during the study period. Of these, 3526 (76.3%) had CHD; 1941(55%) were females. Isolated ventricular septal defect (VSD) was the most common CHD seen in 923 (27.2%) children followed by Patent ductus arteriosus (PDA) 760 (22%) and atrial septal defects (ASD) 332 (9.4%). Tetralogy of Fallot (TOF) and Truncus arteriosus were the most common cyanotic heart defects (7% and 5% respectively). Dysmorphic features were diagnosed in 185 children, of which 61 underwent genetic testing (Down syndrome=24, 22q11.2 deletion syndrome n=10). Children with confirmed 22q11.2 deletion had conotruncal abnormalities. Conclusion: Isolated VSD and Tetralogy of Fallot are the most common acyanotic and cyanotic congenital heart defects. We report an unusually high occurrence of Truncus arteriosus

International telemedicine consultations for neurodevelopmental disabilities

Background: A telemedicine program was developed between the Children\u27s National Medical Center (CNMC) in Washington, DC, and the Sheikh Khalifa Bin Zayed Foundation in the United Arab Emirates (UAE). A needs assessment and a curriculum of on-site training conferences were devised preparatory to an ongoing telemedicine consultation program for children with neurodevelopmental disabilities in the underserved eastern region of the UAE. Materials and Methods: Weekly telemedicine consultations are provided by a multidisciplinary faculty. Patients are presented in the UAE with their therapists and families. Real-time (video over Internet protocol; average connection, 768 kilobits/s) telemedicine conferences are held weekly following previews of medical records. A full consultation report follows each telemedicine session. Results: Between February 29, 2012 and June 26, 2013, 48 weekly 1-h live interactive telemedicine consultations were conducted on 48 patients (28 males, 20 females; age range, 8 months–22 years; median age, 5.4 years). The primary diagnoses were cerebral palsy, neurogenetic disorders, autism, neuromuscular disorders, congenital anomalies, global developmental delay, systemic disease, and epilepsy. Common comorbidities were cognitive impairment, communication disorders, and behavioral disorders. Specific recommendations included imaging and DNA studies, antiseizure management, spasticity management including botulinum toxin protocols, and specific therapy modalities including taping techniques, customized body vests, and speech/language and behavioral therapy. Improved outcomes reported were in clinician satisfaction, achievement of therapy goals for patients, and requests for ongoing sessions. Conclusions: Weekly telemedicine sessions coupled with triannual training conferences were successfully implemented in a clinical program dedicated to patients with neurodevelopmental disabilities by the Center for Neuroscience at CNMC and the UAE government. International consultations in neurodevelopmental disabilities utilizing telemedicine services offer a reliable and productive method for joint clinical programs

Angiogenic and Inflammatory Markers of Cardiopulmonary Changes in Children and Adolescents with Sickle Cell Disease

Background: Pulmonary hypertension and left ventricular diastolic dysfunction are complications of sickle cell disease. Pulmonary hypertension is associated with hemolysis and hypoxia, but other unidentified factors are likely involved in pathogenesis as well. Design and Methods: Plasma concentrations of three angiogenic markers (fibroblast growth factor, platelet derived growth factor-BB [PDGF-BB], vascular endothelial growth factor [VEGF]) and seven inflammatory markers implicated in pulmonary hypertension in other settings were determined by Bio-Plex suspension array in 237 children and adolescents with sickle cell disease at steady state and 43 controls. Tricuspid regurgitation velocity (which reflects systolic pulmonary artery pressure), mitral valve E/Edti ratio (which reflects left ventricular diastolic dysfunction), and a hemolytic component derived from four markers of hemolysis and hemoglobin oxygen saturation were also determined. Results: Plasma concentrations of interleukin-8, interleukin-10 and VEGF were elevated in the patients with sickle cell disease compared to controls (P≤0.003). By logistic regression, greater values for PDGF-BB (P = 0.009), interleukin-6 (P = 0.019) and the hemolytic component (P = 0.026) were independently associated with increased odds of elevated tricuspid regurgitation velocity while higher VEGF concentrations were associated with decreased odds (P = 0.005) among the patients with sickle cell disease. These findings, which are consistent with reports that PDGF-BB stimulates and VEGF inhibits vascular smooth muscle cell proliferation, did not apply to E/Etdi. Conclusions: Circulating concentrations of angiogenic and pro-Inflammatory markers are altered in sickle cell disease children and adolescents with elevated tricuspid regurgitation velocity, a subgroup that may be at risk for developing worsening pulmonary hypertension. Further studies to understand the molecular changes in these children are indicated

Tricuspid regurgitation velocity and other biomarkers of mortality in children, adolescents and young adults with sickle cell disease in the United States: The PUSH study

In the US, mortality in sickle cell disease (SCD) increases after age 18- 20- years. Biomarkers of mortality risk can identify patients who need intensive follow- up and early or novel interventions. We prospectively enrolled 510 SCD patients aged 3- 20- years into an observational study in 2006- 2010 and followed 497 patients for a median of 88- months (range 1- 105). We hypothesized that elevated pulmonary artery systolic pressure as reflected in tricuspid regurgitation velocity (TRV) would be associated with mortality. Estimated survival to 18- years was 99% and to 25- years, 94%. Causes of death were known in seven of 10 patients: stroke in four (hemorrhagic two, infarctive one, unspecified one), multiorgan failure one, parvovirus B19 infection one, sudden death one. Baseline TRV - ¥2.7 m/second (>2 SD above the mean in age- matched and gender- matched non- SCD controls) was observed in 20.0% of patients who died vs 4.6% of those who survived (P =- .012 by the log rank test for equality of survival). The baseline variable most strongly associated with an elevated TRV was a high hemolytic rate. Additional biomarkers associated with mortality were ferritin - ¥2000- μg/L (observed in 60% of patients who died vs 7.8% of survivors, P <- .001), forced expiratory volume in 1 minute to forced vital capacity ratio (FEV1/FVC) <0.80 (71.4% of patients who died vs 18.8% of survivors, P <- .001), and neutrophil count - ¥10x109/L (30.0% of patients who died vs 7.9% of survivors, P =- .018). In SCD children, adolescents and young adults, steady- state elevations of TRV, ferritin and neutrophils and a low FEV1/FVC ratio may be biomarkers associated with increased risk of death.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/155951/1/ajh25799_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/155951/2/ajh25799.pd

Double outlet right ventricle: Echocardiography and the concepts for surgical decision making

Recording of presentation given by Craig Sable with the title 'Double outlet right ventricle: Echocardiography and the concepts for surgical decision making', presented on Friday, 15 March 2019 as part of the Inaugural PROTEA (Partnerships for Children with Heart Disease in Africa) Workshop in Cape Town, South Africa.The 13th-16th March 2019 marked the Inaugural PROTEA (Partnerships for Children with Heart Disease in Africa) Workshop hosted by the Children’s Heart Disease Research Unit under the directorship of A/Prof Liesl Zuhlke and in conjunction with the Paediatric Cardiology Service of the Western Cape. A first in Africa, this workshop combined four events: a research methods workshop, a basic echocardiography (echo) workshop, two days of advanced echo as well as a rheumatic heart disease research think-tank. 130 delegates from 19 different countries representing all six continents attended the event, making it truly global and giving attendees the opportunity to meet and network with experts in the fields of rheumatic and congenital heart disease.</div

ARF versus RHD: Nomenclature matters

Recording of presentation given by Craig Sable with the title 'ARF versus RHD: Nomenclature matters', presented on Wednesday, 13 March 2019 as part of the Inaugural PROTEA (Partnerships for Children with Heart Disease in Africa) Workshop in Cape Town, South Africa.The 13th-16th March 2019 marked the Inaugural PROTEA (Partnerships for Children with Heart Disease in Africa) Workshop hosted by the Children’s Heart Disease Research Unit under the directorship of A/Prof Liesl Zuhlke and in conjunction with the Paediatric Cardiology Service of the Western Cape. A first in Africa, this workshop combined four events: a research methods workshop, a basic echocardiography (echo) workshop, two days of advanced echo as well as a rheumatic heart disease research think-tank. 130 delegates from 19 different countries representing all six continents attended the event, making it truly global and giving attendees the opportunity to meet and network with experts in the fields of rheumatic and congenital heart disease.Funding was provided by the University of Manchester, the University of Cape Town and The Children’s Heart Disease Research Unit. A special thanks to Professor Bernard Keavney, from the University of Manchester, for his assistance and support

Spectral doppler imaging of vessels in the optic nerve of children

Elevation and blur of the optic disc margin with hyperemia and flame hemorrhages are classic features of papilledema that may not be present with mild elevations of the cerebral spinal fluid pressure. In children, the disc can be dramatically elevated with indistinct margins in pseudopapilledema. Children with equivocal disc features are sedated for neuroimaging and lumbar puncture to measure opening intracranial pressure. © SAGE Publications, Inc. 2007