Article (Scientific journals)
Pattern of congenital heart diseases in Rwandan children with genetic defects.
Teteli, Raissa; Uwineza, Annette; Butera, Yvan et al.
2014In Pan African Medical Journal, 19, p. 85
Peer reviewed
 

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Keywords :
Congenital heart disease; Rwanda; genetic defects; pediatric patients
Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Teteli, Raissa
Uwineza, Annette ;  Université de Liège - ULiège > CHU - @chu - AD
Butera, Yvan  
Hitayezu, Janvier
Murorunkwere, Seraphine
Umurerwa, Lamberte
Ndinkabandi, Janvier
Hellin, Anne-Cécile ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
JAMAR, Mauricette ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
CABERG, Jean-Hubert ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Muganga, Narcisse
Mucumbitsi, Joseph
Rusingiza, Emmanuel Kamanzi
Mutesa, Leon
More authors (4 more) Less
Language :
English
Title :
Pattern of congenital heart diseases in Rwandan children with genetic defects.
Publication date :
2014
Journal title :
Pan African Medical Journal
eISSN :
1937-8688
Publisher :
African Field Epidemiology Network, Kampala, Uganda
Volume :
19
Pages :
85
Peer reviewed :
Peer reviewed
Available on ORBi :
since 02 March 2015

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