South-to-south collaboration to strengthen the health workforce: the case of paediatric cardiac surgery in Rwanda.

Paediatric cardiovascular diseases have been referred to as diseases of injustice as access to care is inequitable globally. For example, Africa only has 78 cardiac centres, with 22 located in Sub-Saharan Africa. Most of these centres rely on visiting surgical teams to provide clinical care. While visiting surgical teams provide essential care, building a sustainable and locally run cardiac workforce in Africa is critical to addressing these inequities in access to care. This paper considers the role of south-to-south partnerships in building sustainable surgical programmes using Rwanda's paediatric cardiac surgery programme as an example.

Reproductive health among women of child-bearing age after surgery for rheumatic heart disease in Rwanda.

OBJECTIVE: To determine maternal and fetal outcomes in postoperative women with rheumatic heart disease who become pregnant after valve surgery and evaluate current anticoagulation management during pregnancy. METHODS: Data from the Rwandan rheumatic heart disease cardiac surgical registry identified all female patients who underwent valve surgery before or during childbearing age since 2006. In total, 136 participants completed a mixed-methods questionnaire detailing each pregnancy after surgery, including anticoagulation regimen and outcomes. RESULTS: We found that 38.2% (n = 136) of patients reported at least 1 pregnancy after surgery, of which more than one half were unintentional (53.9%, n = 52). Among those patients with mechanical valves, most remained on warfarin alone during pregnancy (58.5%, n = 53) whereas one third were switched to low molecular weight heparin during the first, second, or third trimesters (5 vs 4 vs 7, n = 18). Women with bioprosthetic valve replacement or valve repair were more likely to experience live term births (84.6% vs 45.3%, P < .01) and less likely to report spontaneous abortion (3.9% vs 30.2%, P < .01) compared with women with mechanical valve replacement. Excessive bleeding was the most common complication during pregnancy (9.1%, n = 79), and 2 infants were diagnosed with congenital defects associated with warfarin embryopathy (4.8%, n = 42). CONCLUSIONS: Despite preoperative counseling discouraging conception, many women with prosthetic valves still become pregnant after surgery. The results of this study will inform evidence-based and context-specific practices for anticoagulation during pregnancy in Rwanda and the region.

Correction: Decentralization and Integration of Advanced Cardiac Care for the World's Poorest Billion Through the PEN-Plus Strategy for Severe Chronic Non-Communicable Disease.

[This corrects the article DOI: 10.5334/gh.1313.].

Mortality and Morbidity in Adults With Rheumatic Heart Disease.

Importance: Rheumatic heart disease (RHD) remains a public health issue in low- and middle-income countries (LMICs). However, there are few large studies enrolling individuals from multiple endemic countries. Objective: To assess the risk and predictors of major patient-important clinical outcomes in patients with clinical RHD. Design, Setting, and Participants: Multicenter, hospital-based, prospective observational study including 138 sites in 24 RHD-endemic LMICs. Main Outcomes and Measures: The primary outcome was all-cause mortality. Secondary outcomes were cause-specific mortality, heart failure (HF) hospitalization, stroke, recurrent rheumatic fever, and infective endocarditis. This study analyzed event rates by World Bank country income groups and determined the predictors of mortality using multivariable Cox models. Results: Between August 2016 and May 2022, a total of 13 696 patients were enrolled. The mean age was 43.2 years and 72% were women. Data on vital status were available for 12 967 participants (94.7%) at the end of follow-up. Over a median duration of 3.2 years (41 478 patient-years), 1943 patients died (15% overall; 4.7% per patient-year). Most deaths were due to vascular causes (1312 [67.5%]), mainly HF or sudden cardiac death. The number of patients undergoing valve surgery (604 [4.4%]) and HF hospitalization (2% per year) was low. Strokes were infrequent (0.6% per year) and recurrent rheumatic fever was rare. Markers of severe valve disease, such as congestive HF (HR, 1.58 [95% CI, 1.50-1.87]; P < .001), pulmonary hypertension (HR, 1.52 [95% CI, 1.37-1.69]; P < .001), and atrial fibrillation (HR, 1.30 [95% CI, 1.15-1.46]; P < .001) were associated with increased mortality. Treatment with surgery (HR, 0.23 [95% CI, 0.12-0.44]; P < .001) or valvuloplasty (HR, 0.24 [95% CI, 0.06-0.95]; P = .042) were associated with lower mortality. Higher country income level was associated with lower mortality after adjustment for patient-level factors. Conclusions and Relevance: Mortality in RHD is high and is correlated with the severity of valve disease. Valve surgery and valvuloplasty were associated with substantially lower mortality. Study findings suggest a greater need to improve access to surgical and interventional care, in addition to the current approaches focused on antibiotic prophylaxis and anticoagulation.

Continuing Professional Development Program in Health Facilities in Rwanda: A Qualitative Study on the Perceptions of Health Professionals.

Background: Continuous professional development (CPD) is an important pillar in healthcare service delivery. Health professionals at all levels and disciplines must continuously update their knowledge and skills to cope with increasing professional demands in the context of a continuously changing spectrum of diseases. This study aimed to assess the CPD programs available in healthcare facilities (HFs) in Rwanda. Methodology: Semi-structured interviews were conducted using purposive sampling. Accordingly, the respondents belonged to different categories of health professionals, namely nurses, midwives, laboratory technicians, pharmacists, general practitioners, and specialist doctors. Thirty-five participants from district, provincial, and national referral hospitals were interviewed between September and October 2020. A thematic analysis was conducted using Atlas ti.7.5.18, and the main findings for each theme were reported as a narrative summary. Results: The CPD program was reported to be available, but not for all HPs and HFs, because of either limited access to online CPD programs or limited HF leaders. Where available, CPD programs have sometimes been reported to be irrelevant to health professionals and patients' needs. Furthermore, the planning and implementation of current CPD programs seldom involves beneficiaries. Some HFs do not integrate CPD programs into their daily activities, and current CPD programs do not accommodate mentorship programs. The ideal CPD program should be designed around HPs and service needs and delivered through a user-friendly platform. The motivators for HPs to engage in CPD activities include learning new things that help them improve their healthcare services and license renewal. Conclusion: This study provides an overview of the status and perceptions of the CPD program in HFs in Rwanda and provides HPs' insights on the improvements in designing a standardized and harmonized CPD program in Rwanda.

Decentralization and Integration of Advanced Cardiac Care for the World's Poorest Billion Through the PEN-Plus Strategy for Severe Chronic Non-Communicable Disease.

Rheumatic and congenital heart disease, cardiomyopathies, and hypertensive heart disease are major causes of suffering and death in low- and lower middle-income countries (LLMICs), where the world's poorest billion people reside. Advanced cardiac care in these counties is still predominantly provided by specialists at urban tertiary centers, and is largely inaccessible to the rural poor. This situation is due to critical shortages in diagnostics, medications, and trained healthcare workers. The Package of Essential NCD Interventions - Plus (PEN-Plus) is an integrated care model for severe chronic noncommunicable diseases (NCDs) that aims to decentralize services and increase access. PEN-Plus strategies are being initiated by a growing number of LLMICs. We describe how PEN-Plus addresses the need for advanced cardiac care and discuss how a global group of cardiac organizations are working through the PEN-Plus Cardiac expert group to promote a shared operational strategy for management of severe cardiac disease in high-poverty settings.

ePOCT+ and the medAL-suite: Development of an electronic clinical decision support algorithm and digital platform for pediatric outpatients in low- and middle-income countries.

Electronic clinical decision support algorithms (CDSAs) have been developed to address high childhood mortality and inappropriate antibiotic prescription by helping clinicians adhere to guidelines. Previously identified challenges of CDSAs include their limited scope, usability, and outdated clinical content. To address these challenges we developed ePOCT+, a CDSA for the care of pediatric outpatients in low- and middle-income settings, and the medical algorithm suite (medAL-suite), a software for the creation and execution of CDSAs. Following the principles of digital development, we aim to describe the process and lessons learnt from the development of ePOCT+ and the medAL-suite. In particular, this work outlines the systematic integrative development process in the design and implementation of these tools required to meet the needs of clinicians to improve uptake and quality of care. We considered the feasibility, acceptability and reliability of clinical signs and symptoms, as well as the diagnostic and prognostic performance of predictors. To assure clinical validity, and appropriateness for the country of implementation the algorithm underwent numerous reviews by clinical experts and health authorities from the implementing countries. The digitalization process involved the creation of medAL-creator, a digital platform which allows clinicians without IT programming skills to easily create the algorithms, and medAL-reader the mobile health (mHealth) application used by clinicians during the consultation. Extensive feasibility tests were done with feedback from end-users of multiple countries to improve the clinical algorithm and medAL-reader software. We hope that the development framework used for developing ePOCT+ will help support the development of other CDSAs, and that the open-source medAL-suite will enable others to easily and independently implement them. Further clinical validation studies are underway in Tanzania, Rwanda, Kenya, Senegal, and India.

An e-learning pediatric cardiology curriculum for Pediatric Postgraduate trainees in Rwanda: implementation and evaluation.

BACKGROUND: Access to pediatric sub-specialty training is a critical unmet need in many resource-limited settings. In Rwanda, only two pediatric cardiologists are responsible for the country's clinical care of a population of 12 million, along with the medical education of all pediatric trainees. To strengthen physician training opportunities, we developed an e-learning curriculum in pediatric cardiology. This curriculum aimed to "flip the classroom", allowing residents to learn key pediatric cardiology concepts digitally before an in-person session with the specialist, thus efficiently utilizing the specialist for additional case based and bedside teaching. METHODS: We surveyed Rwandan and US faculty and residents using a modified Delphi approach to identify key topics in pediatric cardiology. Lead authors from Rwanda and the USA collaborated with OPENPediatrics™, a free digital knowledge-sharing platform, to produce ten core topics presented in structured videos spanning 4.5 h. A mixed methods evaluation was completed with Rwandan pediatric residents, including surveys assessing knowledge, utilization, and satisfaction. Qualitative analysis of structured interviews was conducted using NVivo. RESULTS: Among the 43 residents who participated in the OPENPediatrics™ cardiology curriculum, 33 (77%) completed the curriculum assessment. Residents reported using the curriculum for a median of 8 h. Thirty-eight (88%) reported viewing the curriculum on their personal or hospital computer via pre-downloaded materials on a USB flash drive, with another seven (16%) reporting viewing it online. Twenty-seven residents viewed the course during core lecture time (63%). Commonly reported barriers to utilization included lack of time (70%), access to internet (40%) and language (24%). Scores on knowledge assessment improved from 66.2% to 76.7% upon completion of the curriculum (p < 0.001) across all levels of training, with most significant improvement in scores for PGY-1 and PGY-2 residents. Residents reported high satisfaction with the visuals, engaging presentation, and organization of the curriculum. Residents opined the need for expanded training material in cardiac electrocardiogram and echocardiogram and requested for slower narration by foreign presenters. CONCLUSION: Video-based e-learning via OPENPediatrics™ in a resource-limited setting was effective in improving resident's knowledge in pediatric cardiology with high levels of utilization and satisfaction. Expanding access to digital curriculums for other pediatric sub-specialties may be both an effective and efficient strategy for improving training in settings with limited access to subspecialist faculty.

Presentation of Pediatric Unintentional Injuries at Rural Hospitals in Rwanda: A Retrospective Study.

Background: Injuries are a leading cause of mortality among children globally, with children in low- and middle-income countries more likely to die if injured compared to children in high-income countries. Timely and high-quality care are essential to reduce injury-related morbidity and mortality. Objectives: This study describes patterns, management, and outcomes of children 0-15 years presenting with unintentional injuries at three district hospitals in rural Rwanda between January 1 and December 31, 2017. Methods: Using a retrospective cross-sectional study design, we assessed the demographic and clinical characteristics, care provided, and outcomes of the children using data extracted from patient medical charts. We describe the patient population using frequencies and proportions as well as median and interquartile ranges. Findings: Of the 449 injured children who sought care at the three rural district hospitals, 66.2% (n = 297) were boys. The main causes of injury were falls (n = 261, 58.1%), burns (n = 101, 22.5%), and road traffic injuries (n = 67, 14.9%). Burns were the most common injury among children aged 0-5 years while falls were the leading injury type among the 5-15 years age group. Vital signs were inconsistently completed ranging between 23.8-89.1% of vital sign items. Of the injured children, 37.0% (n = 166) received surgery at the district hospital, general practitioners performed 80.9% (n = 114) of surgeries, 87.4% (n = 145) of operated patients received no anesthesia, and 69.3% (n = 311) were admitted to the district hospital, while 2.7% (n = 12) were transferred to tertiary facilities for higher-level care. Conclusions: The presentation of child injuries-namely falls, burns, and road traffic accidents-is similar to what has been reported in other sub-Saharan African countries. However, more needs to be done to improve the completion and documentation of vital signs and increase availability of surgical specialists. Finally, targeted strategies to prevent burns and motorcycle-related injuries are recommended prevention interventions for this rural population.

Postoperative Rheumatic Heart Disease Follow-Up: Creating a National Registry and First Results from Rwanda.

Background: In many developing countries, rheumatic heart disease (RHD) is diagnosed at an advanced stage and requires surgery for patient survival. However, access to cardiac surgery in this context is limited and often provided through partnerships, requiring centralized patient data systems for monitoring and follow-up. Objectives: This study used data from a national postoperative RHD registry to analyze clinical outcomes of Rwandan patients who received surgery between 2006 and 2017. Methods: The RHD registry was created in 2017 using data compiled from Rwanda Ministry of Health and RHD surgery partners. We extracted pre- and post-operative data on patients who were alive and in care. We excluded patients who died or were lost to follow-up, as their data was not collected in the registry. We evaluated the association between demographic, surgical, and follow-up characteristics and most recent patient symptoms, categorized by New York Heart Association (NYHA) class. Findings: Among the 191 patients eligible for inclusion in this study, 107(56.0%) were female, 110(57.6%) were adults at the time of surgery (>15 years), and 128(67.4%) had surgery in Rwanda. Most patients (n = 166, 86.9%) were on penicillin prophylaxis. Of the patients with mechanical valves, 47(29.9%) had therapeutic International Normalized Ratio values. 90% of patients were asymptomatic (NYHA I) at the time of most recent visit. NYHA class was not significantly associated with any of the considered variables. The median length of follow-up for patients was four years (IQR: 2, 5 years). Conclusion: This study shows both the feasibility and challenges of creating a RHD registry 11 years after the national initiation of RHD surgeries. Most patients captured in the registry are asymptomatic; however, collecting details on patients who had died or were lost to follow-up has proven difficult. Implementing strategies to maintain a complete and up-to-date registry will facilitate follow-up for pre- and postoperative patients.

Knowledge and attitudes towards antibiotic use and resistance among undergraduate healthcare students at University of Rwanda.

BACKGROUND: Antimicrobial resistance (AMR) is an imminent threat to modern medicine. As the efficacy of treatment regimens is reduced, mortality and morbidity attributed to infectious diseases is expected to rise dramatically across the globe. Antimicrobial stewardship and good prescription practices are critical to conserving available therapeutics; it is appropriate, therefore, to appraise our attitudes and knowledge of antimicrobial resistance, particularly for the future healthcare practitioners. METHODS: This is a descriptive cross-sectional study that was conducted among 282 medicals, dental and pharmacy students from the University of Rwanda. Questionnaires were used to collect data from the 4th to 29th March 2017. RESULTS: Students from Level 3 to level 6 have demonstrated a good knowledge on antibiotics and antimicrobial resistance. Generally, 95% (n = 218) agreed that the inappropriate use of antibiotics could lead to antibiotic resistance. It was found that 96% (n = 220) of the respondents had heard about AMR outside their degree courses. 49% (n = 112) of the participants reported that they are able to purchase antibiotics without a prescription. 96% (n = 220) agreed that it was important for healthcare students to be knowledgeable about antimicrobial resistance. Perhaps most surprisingly, it was found that 83% (n = 191) of participants were unfamiliar with the concept of antimicrobial stewardship and 49% (n = 21) had not yet discussed antimicrobial resistance as part of their education, albeit only 1% (n = 3) was completely unfamiliar with the term. Furthermore, 38% (n = 86) did not support that the antibiotics were overused in Rwanda, 23% (n = 10) did not agree that inappropriate antimicrobial use contributed to antimicrobial resistance, and 50% (n = 22) of participants agreed that antibiotics were indicated in the treatment of pain and inflammation. CONCLUSIONS: The present study reports a moderate knowledge on AMR among the healthcare students. The gaps in the current formal training of healthcare individuals have been identified as well. We highlight the necessity to enhance educational approaches to introduce the key concepts of AMR and antimicrobial stewardship to the curriculum of healthcare students.

Integration of Chronic Oncology Services in Noncommunicable Disease Clinic in Rural Rwanda.

Background: In rural sub-Saharan Africa, access to care for severe non-communicable diseases (NCDs) is limited due to myriad delivery challenges. We describe the implementation, patient characteristics, and retention rate of an integrated NCD clinic inclusive of cancer services at a district hospital in rural Rwanda. Methods: In 2006, the Rwandan Ministry of Health at Rwinkwavu District Hospital (RDH) and Partners In Health established an integrated NCD clinic focused on nurse-led care of severe NCDs, within a single delivery platform. Implementation modifications were made in 2011 to include cancer services. For this descriptive study, we abstracted medical record data for 15 months after first clinic visit for all patients who enrolled in the NCD clinic between 1 July 2012 and 30 June 2014. We report descriptive statistics of patient characteristics and retention. Results: Three hundred forty-seven patients enrolled during the study period: oncology - 71.8%, hypertension - 10.4%, heart failure - 11.0%, diabetes - 5.5%, and chronic respiratory disease (CRD) - 1.4%. Twelve-month retention rates were: oncology - 81.6%, CRD - 60.0%, hypertension - 75.0%, diabetes - 73.7%, and heart failure - 47.4%. Conclusions: The integrated NCD clinic filled a gap in accessible care for severe NCDs, including cancer, at rural district hospitals. This novel approach has illustrated good retention rates.

10-Year Heart Failure Outcomes From Nurse-Driven Clinics in Rural Sub-Saharan Africa.

Nurse-led delivery care models have the potential to address the significant burden of heart failure in sub-Saharan Africa. Starting in 2006, the Rwandan Ministry of Health, supported by Inshuti Mu Buzima (Partners In Health-Rwanda), decentralized heart failure diagnosis and care delivery in the context of advanced nurse-led integrated noncommunicable clinics at rural district hospitals. Here, the authors describe the first medium-term survival outcomes from the district level in rural sub-Saharan Africa based on their 10-year experience providing care in rural Rwanda. Kaplan-Meier methods were used to determine median time to event for: 1) composite event of known death from any cause, lost to follow-up, or transfer to estimate worst-case mortality; and 2) known death only. Five-year event-free rates were 41.7% for the composite outcome and 64.3% for known death. While death rates are encouraging, efforts to reduce loss to follow-up are needed.

Understanding the Etiology of Heart Failure Among the Rural Poor in Sub-Saharan Africa: A 10-Year Experience From District Hospitals in Rwanda.

BACKGROUND: Heart failure is a significant cause of morbidity and mortality in sub-Saharan Africa. Our understanding of the heart failure burden in this region has been limited mainly to registries from urban referral centers. Starting in 2006, a nurse-driven strategy was initiated to provide echocardiography and decentralized heart failure care within noncommunicable disease (NCD) clinics in rural district hospitals in Rwanda. METHODS AND RESULTS: We conducted a retrospective review of patients with cardiologist-confirmed heart failure treated at 3 district hospital NCD clinics in Rwanda from 2006 to 2017 to determine patient clinical characteristics and disease distribution. Over 10 years, 719 patients with confirmed heart failure were identified. Median age was 27 years overall, and 42 years in adults. Thirty-six percent were children (age <18 years), 68% were female, and 78% of adults were farmers. At entry, 39% were in New York Heart Association functional class III-IV. Among children, congenital heart disease (52%) and rheumatic heart disease (36%) were most common. In adults, cardiomyopathy (40%), rheumatic heart disease (27%), and hypertensive heart disease (13%) were most common. No patients were diagnosed with ischemic cardiomyopathy. CONCLUSIONS: The results of the largest single-country heart failure cohort from rural sub-Saharan Africa demonstrate a persistent burden of rheumatic disease and nonischemic cardiomyopathies.

Outcomes for patients with rheumatic heart disease after cardiac surgery followed at rural district hospitals in Rwanda.

BACKGROUND: In sub-Saharan Africa, continued clinical follow-up, after cardiac surgery, is only available at urban referral centres. We implemented a decentralised, integrated care model to provide longitudinal care for patients with advanced rheumatic heart disease (RHD) at district hospitals in rural Rwanda before and after heart surgery. METHODS: We collected data from charts at non-communicable disease (NCD) clinics at three rural district hospitals in Rwanda to describe the outcomes of 54 patients with RHD who received cardiac valve surgery during 2007-2015. RESULTS: The majority of patients were adults (46/54; 85%), and 74% were females. The median age at the time of surgery was 22 years in adults and 11 years in children. Advanced symptoms-New York Heart Association class III or IV-were present in 83% before surgery and only 4% afterwards. The mitral valve was the most common valve requiring surgery. Valvular surgery consisted mostly of a single valve (56%) and double valve (41%). Patients were followed for a median of 3 years (range 0.2-7.9) during which 7.4% of them died; all deaths were patients who had undergone bioprosthetic valve replacement. For patients with mechanical valves, anticoagulation was checked at 96% of visits. There were no known bleeding or thrombotic events requiring hospitalisation. CONCLUSION: Outcomes of postoperative patients with RHD tracked in rural Rwanda health facilities were generally good. With appropriate training and supervision, it is feasible to safely decentralise follow-up of patients with RHD to nurse-led specialised NCD clinics after cardiac surgery.

Ten-year clinical experience of humanitarian cardiothoracic surgery in Rwanda: Building a platform for ultimate sustainability in a resource-limited setting.

OBJECTIVE: Despite its near complete eradication in resource-rich countries, rheumatic heart disease remains the most common acquired cardiovascular disease in sub-Saharan Africa. With a ratio of physicians/population of 1 per 10,500, including only 4 cardiologists for a population of 11.4 million, Rwanda represents a resource-limited setting lacking the local capacity to detect and treat early cases of strep throat and perform lifesaving operations for advanced rheumatic heart disease. Humanitarian surgical outreach in this region can improve the delivery of cardiovascular care by providing sustainability through mentorship, medical expertise, training, and knowledge transfer, and ultimately the creation of a cardiac center. METHODS: We describe the experience of consecutive annual visits to Rwanda since 2008 and report the outcomes of a collaborative approach to enable sustainable cardiac surgery in the region. The Ferrans and Powers Quality of Life Index tool's Cardiac Version (http://www.uic.edu/orgs/qli/) was administered to assess the postoperative quality of life. RESULTS: Ten visits have been completed, performing 149 open procedures, including 200 valve implantations, New York Heart Association class III or IV, with 4.7% 30-day mortality. All procedures were performed with the participation of local Rwandan personnel, expatriate physicians, nurses, residents, and support staff. Early complications included cerebrovascular accident (n = 4), hemorrhage requiring reoperation (n = 6), and death (n = 7). Quality of life was assessed to further understand challenges encountered after cardiac surgery in this resource-limited setting. Four major domains were considered: health and functioning, social and economic, psychologic/spiritual, and family. The mean total quality of life index was 20.79 ± 4.07 on a scale from 0 to 30, for which higher scores indicated higher quality of life. Women had significantly lower "social and economic" subscores (16.81 ± 4.17) than men (18.64 ± 4.10) (P < .05). Patients who reported receiving their follow-up care in rural health centers also had significantly lower "social and economic" subscores (15.67 ± 3.81) when compared with those receiving follow-up care in urban health facilities (18.28 ± 4.16) (P < .005). Value afforded to family and psychologic factors remained high among all groups. Major postsurgical challenges faced included barriers to follow-up and systemic anticoagulation. CONCLUSIONS: This report represents the first account of a long-term humanitarian effort to develop sustainability in cardiac surgery in a resource-limited setting, Rwanda. With the use of volunteer teams to deliver care, transfer knowledge, and mentor local personnel, the results demonstrate superior outcomes and favorable indices of quality of life. The credibility gained over a decade of effort has created the opportunity for a partnership with Rwanda to establish a dedicated center of cardiac care to assist in mitigating the burden of cardiovascular disease throughout sub-Saharan Africa.

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.