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IntroductionCongenital 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.MethodsA total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients.ResultsCHDs 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.ConclusionOur 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.

Methods Staff from simulation and paediatric metabolic medicine collaborated to devise multi-professional metabolic emergency scenarios. Cases highlighted specific aspects of underlying inborn errors of metabolism and general clinical principles and protocols. Simulation sessions involved medical and nursing staff from all levels. Participant feedback focused upon session utility and applicability to the clinical environment. Analysis of simulation data was retrospectively performed of all metabolic emergency simulation data. Results Between January 2017 and September 2018, there were 7 metabolic simulation sessions involving 56 members of staff. Scenarios involved inherited metabolic conditions with complications assessing generic skills including: an allergic reaction to enzyme replacement therapy in a child with Hunter's syndrome; sepsis in a child with methylmalonic acidaemia and seizures in a child with a decompensated urea cycle defect. Participant feedback was positive with high session utility reported and applicability to clinical practice. Conclusions Participants in simulated metabolic emergencies report this training as a valuable opportunity to practise team working and clinical skills. Scenarios incorporating common emergencies in rare conditions can meet generic and sub-speciality specific training needs. Further work is planned to devise syllabus based metabolic scenarios and contribute to training in this neglected field.