Reference : Pattern of congenital heart diseases in Rwandan children with genetic defects.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/178828
Pattern of congenital heart diseases in Rwandan children with genetic defects.
English
Teteli, Raissa [> >]
Uwineza, Annette mailto [Université de Liège - ULiège > > > CHU - @chu - AD]
Butera, Yvan [> >]
Hitayezu, Janvier [> >]
Murorunkwere, Seraphine [> >]
Umurerwa, Lamberte [> >]
Ndinkabandi, Janvier [> >]
Hellin, Anne-Cecile [> >]
JAMAR, Mauricette mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
CABERG, Jean-Hubert mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Muganga, Narcisse [> >]
Mucumbitsi, Joseph [> >]
Rusingiza, Emmanuel Kamanzi [> >]
Mutesa, Leon [> >]
2014
Pan African Medical Journal
19
85
Yes (verified by ORBi)
International
1937-8688
Uganda
[en] Congenital heart disease ; Rwanda ; genetic defects ; pediatric patients
[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.
http://hdl.handle.net/2268/178828
10.11604/pamj.2014.19.85.3428

File(s) associated to this reference

Fulltext file(s):

FileCommentaryVersionSizeAccess
Restricted access
Caberg Pattern.pdfPublisher postprint445.41 kBRequest copy

Bookmark and Share SFX Query

All documents in ORBi are protected by a user license.