Pattern of congenital heart diseases in Rwandan children with genetic defects

Introduction: Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study  aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric  patients in Rwanda.Methods: A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients.Results: CHDs were detected in the majority of patients with genetic defects. The commonest isolated CHD was ventricular septal defect found in many cases of Down syndrome. In total, chromosomal abnormalities represented the majority of cases in our cohort and were associated with various types of CHDs.Conclusion: Our findings showed that CHDs are common in Rwandan pediatric patients with genetic defects. These results suggest that a routine echocardiography assessment combined with systematic genetic  investigations including standard karyotype should be mandatory in patients presenting characteristic clinical features in whom CHD is suspected to be associated with genetic defect.Key words: Congenital heart disease, genetic defects, pediatric patients, Rwand

Uniting to address paediatric heart disease in Africa: Advocacy from Rwanda

Paediatric heart disease causes death or disability in 15 million children around the world each year – a fi gure staggeringly disproportionate to available and relevant international funding and support. Although 80% of the burden of cardiovascular disorders fall in low- and middleincome countries, poor countries have a very limited capacity to build a system of care to address heart disease, including prevention, care, control and research. In this article, authors who work in or with Rwanda’s public sector aim to describe the current state of heart disease among children, what is currently being done to manage care and future directions for the national programme. As the world turns its attention to non-communicable diseases and seeks to ensure that they fi nd a prominent place in the post-2015 development agenda, it is essential to ensure that children are not left behind

Worldwide practice of pediatric cardiology

Important differences exist in the organization of care for patients with congenital heart disease (CHD) in different parts of the world. While high-income countries may provide similar care to patients, in low-income countries, patients with CHD are confronted with serious healthcare dysfunctions, including cardiac care. This leads to increased morbidity and mortality. Most of these countries do not have the necessary financial, infrastructural, logistic nor educational resources to establish a well-functioning cardiac care system on their own. Nevertheless, successful programs are realized in some of these countries. These successful programs guarantee a sustainable care resulting in improved morbidity and mortality and become reasonably independent of foreign medical support at some point. The creation of such a successful congenital cardiac care program is possible after careful planning and agreements between local authorities, health services, and foreign partners. Continuous financial support, in addition to medical, technical, and educational help, are needed to create a sustainable center that will be able to provide high-quality cardiac care. That center should create a nationwide network, allowing early diagnosis and timely referral for all patients. The center should become the motor driving education and research in the field. The goal should be to enable the local programs to operate independently of foreign partners and continue to collaborate in a mutually respectful partnership

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

BACKGROUND: Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. METHODS: Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform. RESULTS: Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. CONCLUSION: This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries

Catheter interventions in congenital heart disease without regular catheterization laboratory equipment: the chain of hope experience in rwanda

This report describes the feasibility and safety of cardiac catheterization in a developing country without access to a regular cardiac catheterization laboratory. The equipment used for imaging consisted of a monoplane conventional C-arm X-ray system and a portable ultrasound machine using the usual guidewires and catheters for cardiovascular access. In this study, 30 patients, including 17 children younger than 2 years and 2 adults, underwent catheterization of the following cardiac anomalies: patent ductus arteriosus (20 patients) and pulmonary valve stenosis (9 patients, including 2 patients with critical stenosis and 3 patients with a secundum atrial septal defect). Except for two cases requiring surgery, the patients were treated successfully without complications. They all were discharged from hospital, usually the day after cardiac catheterization, and showed significant clinical improvement in the follow-up evaluation. Cardiac catheterization can be performed safely and very effectively in a country with limited resources. If patients are well selected, this mode of treatment is possible without the support of a sophisticated catheterization laboratory

Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test

peer reviewedObjectives To evaluate the feasibility of systematic neonatal screening for sickle cell disease in the region of Great Lakes in Central Africa using a new approach with limited costs. Methods Between July 2004 and July 2006, 1825 newborn dried blood samples were collected onto filter papers in four maternity units from Burundi, Rwanda and the East of the Democratic Republic of Congo. We tested for the presence of haemoglobin C and S in the eluted blood by an enzyme-linked immunosorbent assay (ELISA) test using a monoclonal antibody. All ELISA-positive samples (multiple of the median (MoM) >= 1.5) were confirmed by a simple molecular test. The statistica software version 7.1 was used to create graphics and to fix the MoM cut-off, and the chi(2) of Pearson was used to compare the genotype incidences between countries. Results Of the 1825 samples screened, 97 (5.32%) were positive. Of these, 60 (3.28%) samples were heterozygous for Hb S, and four (0.22%) for Hb C; two (0.11%) newborns were Hb SS homozygotes. Conclusions The lower cost and the high specificity of ELISA test are appropriate for developing countries, and such systematic screening for sickle cell anaemia is therefore feasible

Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms: Identification of Novel Cystic Fibrosis Transmembrane Conductance Regulator and Epithelial Sodium Channel Gene Variants.

Background The defect in chloride and sodium transport in cystic fibrosis (CF) patients is a consequence of CFTR loss of function and of an abnormal interaction between CFTR and ENaC. A few patients were described with CF-like symptoms, a single CFTR mutation and an ENaC mutation. Methods To study African patients with CF-like symptoms and to relate the disease to gene mutations of both CFTR and ENaC genes, we collected clinical data and DNA samples from 60 African patients with a CF phenotype. The CFTR gene was first analyzed in all patients by dHPLC followed by direct sequencing, whereas the SCNN1A, SCNN1B and SCNN1G subunits of ENaC gene were analyzed by sequencing in the five patients who carried only one CF mutation. The frequency of all identified ENaC variants was established in a control group of 200 healthy individuals and in the 55 CF-like patients without any CFTR mutation Results Three CFTR mutants, including one previously undescribed missense mutation (p.A204T), and a 5T/7T variant were identified in five patients. ENaC gene sequencing in these 5 patients detected 8 ENaC variants: c.72T>C and p.V573I in SCNN1A; p.V348M, p.G442V, c.1473 + 28C>T, and p.T577T in SCNN1B; and p.S212S, c.1176 + 30G>C in SCNN1G. In the 55 CF-like patients without any CFTR mutation, we identified five of these eight ENaC variants, including the frequent p.G442V polymorphism, but we did not detect the presence of the p.V348M, p.T577T, and c.1176 + 30G>C ENaC variants. Moreover, these last three ENaC variants, p.V348M, p.T577T, and c.1176 + 30G>C, were not found in the control group. Conclusion Our data suggest that CF-like syndrome in Africa could be associated with CFTR and ENaC mutations