ArticleThe Pan African medical journal2014
Pattern of congenital heart diseases in Rwandan children with genetic defects.
Article in The Pan African medical journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Proportion, factors hindering, and experiences regarding cardiac screening in children with Down syndrome at Mulago National Referral Hospital: a cross-sectional multimethod study.BMC pediatrics · 2026Article
- Congenital Heart Defect Screening Among Children with Down Syndrome in Rwanda: A Cross-Sectional Study.Pediatric health, medicine and therapeutics · 2026Article
- Right-sided weakness in a Rwandan patient with untreated Tetralogy of Fallot.International journal of emergency medicine · 2023Article
- Identification of epigenetic factor KAT2B gene variants for possible roles in congenital heart diseases.Bioscience reports · 2020Article
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
- Review
- Medical genetics and genomic medicine in Rwanda.Molecular genetics & genomic medicine · 2015Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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