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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 gene...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335284/ https://www.ncbi.nlm.nih.gov/pubmed/25722758 http://dx.doi.org/10.11604/pamj.2014.19.85.3428 |
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author | Teteli, Raissa Uwineza, Annette Butera, Yvan Hitayezu, Janvier Murorunkwere, Seraphine Umurerwa, Lamberte Ndinkabandi, Janvier Hellin, Anne-Cécile Jamar, Mauricette Caberg, Jean-Hubert Muganga, Narcisse Mucumbitsi, Joseph Rusingiza, Emmanuel Kamanzi Mutesa, Leon |
author_facet | Teteli, Raissa Uwineza, Annette Butera, Yvan Hitayezu, Janvier Murorunkwere, Seraphine Umurerwa, Lamberte Ndinkabandi, Janvier Hellin, Anne-Cécile Jamar, Mauricette Caberg, Jean-Hubert Muganga, Narcisse Mucumbitsi, Joseph Rusingiza, Emmanuel Kamanzi Mutesa, Leon |
author_sort | Teteli, Raissa |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4335284 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
spelling | pubmed-43352842015-02-26 Pattern of congenital heart diseases in Rwandan children with genetic defects Teteli, Raissa Uwineza, Annette Butera, Yvan Hitayezu, Janvier Murorunkwere, Seraphine Umurerwa, Lamberte Ndinkabandi, Janvier Hellin, Anne-Cécile Jamar, Mauricette Caberg, Jean-Hubert Muganga, Narcisse Mucumbitsi, Joseph Rusingiza, Emmanuel Kamanzi Mutesa, Leon Pan Afr Med J Research 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. The African Field Epidemiology Network 2014-09-25 /pmc/articles/PMC4335284/ /pubmed/25722758 http://dx.doi.org/10.11604/pamj.2014.19.85.3428 Text en © Raissa Teteli et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Teteli, Raissa Uwineza, Annette Butera, Yvan Hitayezu, Janvier Murorunkwere, Seraphine Umurerwa, Lamberte Ndinkabandi, Janvier Hellin, Anne-Cécile Jamar, Mauricette Caberg, Jean-Hubert Muganga, Narcisse Mucumbitsi, Joseph Rusingiza, Emmanuel Kamanzi Mutesa, Leon Pattern of congenital heart diseases in Rwandan children with genetic defects |
title | Pattern of congenital heart diseases in Rwandan children with genetic defects |
title_full | Pattern of congenital heart diseases in Rwandan children with genetic defects |
title_fullStr | Pattern of congenital heart diseases in Rwandan children with genetic defects |
title_full_unstemmed | Pattern of congenital heart diseases in Rwandan children with genetic defects |
title_short | Pattern of congenital heart diseases in Rwandan children with genetic defects |
title_sort | pattern of congenital heart diseases in rwandan children with genetic defects |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335284/ https://www.ncbi.nlm.nih.gov/pubmed/25722758 http://dx.doi.org/10.11604/pamj.2014.19.85.3428 |
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