Pattern of congenital heart diseases in Rwandan children with genetic defects.
BACKGROUND
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.


CONCLUSIONS
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.
Department of Pediatrics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.
Raissa
R
Teteli
Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda ; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Liège, Belgium ; Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.
Annette
A
Uwineza
Medical Student, College of Medicine and Health Sciences, University of Rwanda.
Yvan
Y
Butera
Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda ; Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.
Janvier
J
Hitayezu
Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Seraphine
S
Murorunkwere
Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Lamberte
L
Umurerwa
Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Janvier
J
Ndinkabandi
Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Liège, Belgium.
Anne-Cécile
AC
Hellin
Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Liège, Belgium.
Mauricette
M
Jamar
Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Liège, Belgium.
Jean-Hubert
JH
Caberg
Department of Pediatrics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.
Narcisse
N
Muganga
Department of Pediatric Cardiology, King Faysal Hospital, Kigali, Rwanda.
Joseph
J
Mucumbitsi
Department of Pediatric Cardiology, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.
Emmanuel Kamanzi
EK
Rusingiza
Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda ; Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.
Leon
L
Mutesa
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D012432:Rwanda
Congenital heart disease; Rwanda; genetic defects; pediatric patients