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Pattern of Congenital Heart Diseases in Rwandan Children with Genetic Defects

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Pattern of Congenital Heart Diseases in Rwandan Children with Genetic Defects Open Access Research Pattern of congenital heart diseases in Rwandan children with genetic defects Raissa Teteli 1, Annette Uwineza 2,3,4 , Yvan Butera 5, Janvier Hitayezu 2,4 , Seraphine Murorunkwere 2, Lamberte Umurerwa 2, Janvier Ndinkabandi 2, Anne-Cécile Hellin 3, Mauricette Jamar 3, Jean-Hubert Caberg 3, Narcisse Muganga 1, Joseph Mucumbitsi 6, Emmanuel Kamanzi Rusingiza 7, Leon Mutesa 2,4,& 1Department of Pediatrics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda, 2Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda, 3Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Liège, Belgium, 4Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda, 5Medical Student, College of Medicine and Health Sciences, University of Rwanda, 6Department of Pediatric Cardiology, King Faysal Hospital, Kigali, Rwanda, 7Department of Pediatric Cardiology, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda &Corresponding author: Leon Mutesa, Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Butare, Rwanda Key words: Congenital heart disease, genetic defects, pediatric patients, Rwanda Received: 30/09/2013 - Accepted: 28/02/2014 - Published: 25/09/2014 Abstract 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. Pan African Medical Journal. 2014; 19:85 doi:10.11604/pamj.2014.19.85.3428 This article is available online at: http://www.panafrican-med-journal.com/content/article/19/85/full/ © Raissa Teteli et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Pan African Medical Journal – ISSN: 1937- 8688 (www.panafrican-med-journal.com) Published in partnership with the African Field Epidemiology Network (AFENET). (www.afenet.net) Page number not for citation purposes 1 Introduction They also provided a signed consent for publication of patients’ photos. Congenital heart disease (CHD) is a problem of heart’s structure and Echocardiography function that is present at birth. It can describe a number of The echocardiography was performed using a SIEMENS ACUSON different anomalies affecting the heart. It is the most common type X300 Machine. The 2D and M mode were used to determine the of birth defect [1]. Population based studies on the prevalence of heart anatomy, the size of heart chambers and the function of both CHD worldwide was found to range between 1.0- 150 per 1000 right and left ventricles. The study with color Doppler allowed livebirths [1]. CHD is often divided into two groups, one of cyanotic assessing the level of regurgitation and velocity through heart disease such as tetralogy of Fallot (TOF), truncus arteriosus atrioventricular valves, semilunar valves and the great vessels. (TA), transposition of the great arteries (TGA); and acynotic heart Transducers with 9 and 4 MHz were selected and used according to disease including especially ventricular septal defect (VSD), the age and the size of the patients. atrioventricular septal defect (AVSD), patent ductus arteriosus (PDA), atrial septal defect (ASD), pulmonary stenosis (PS), and Cytogenetic and molecular analysis coarctation of the aorta (CoA) [1,2]. The CHDs are classified as Standard karyotype was performed in all patients on Q-banded multifactorial defects but the overwhelming majority of congenital metaphases spreads prepared from peripheral blood cells following heart malformations do not segregate in Mendelian ratios, although conventional protocols. We used 500 resolution’s level for banding they show familial aggregation, which suggests that genetic factors characterization. DNA samples were extracted and sent to the may play a role in their development [3]. Most of the known causes Center for Human Genetics in Liege-Belgium for further molecular of CHDs are sporadic genetic variations, point mutations, deletion or testing. Multiplex Probe Ligation Amplification (MLPA) was duplication [4]. Moreover, a large spectrum of chromosomal performed in all patients with normal karyotype using the SALSA abnormalities such as Trisomies 21, 13, and 18 are associated with MLPA P245 microdeletion syndrome kit and SALSA MLPA P070/ CHD in 5-8% of cases [5,6]. In addition, a small proportion of P036 for human telomere screening (MRC-Holland, Amsterdam, The chromosomal abnormalities are also frequently related to CHD, and Netherlands). Fluorescence in Situ Hybridization analysis (FISH) was the most common chromosomal abnormality found in this group is performed to confirm 22q11 deletion (Di George Syndrome), the 22q11 microdeletion causing DiGeorge syndrome [7]. Almost 7q11.23 (Williams’ syndrome). Lymphocytes were cultured by 30% of major cardiac malformations are associated with additional standard methods. Samples were analyzed by using dual-color FISH developmental abnormalities and result from a recognized probes specific to the commonly deleted area. Signals were chromosomal abnormality syndrome or occur as part of a genetic visualized using a fluorescent microscope. Between fifty metaphases syndrome [8,9]. However, up to now few data on CHD associated and 200 interphase nuclei from patient were evaluated. with genetic defects have been reported in African populations [7]. In addition, only one study done in Rwanda in 2007 showed some cases of Down syndrome associated with CHD and the VSD was the most common [10]. Apart from Down syndrome, many other Results genetic diseases such as Noonan syndrome are known to be associated with CHD [11]. Moreover, a recent clinical case study of A systematic karyotype was performed in all 125 patients enrolled in Rwandan patients with Noonan syndrome found all patients to be this study and MPLA screening was done in all remaining patients affected with CHD and PS was the most frequent [12]. Previous with normal karyotype. The standard karyotype was abnormal in research evidences have shown that the prevalence and pattern of 103 patients ( Table 2 ). The most frequent chromosome group of genetic disorders associated with CHD vary both within and abnormality detected in this group was trisomy 21 found in 89 between regions and countries [13,14]. For instance, we observe a patients. Among these cases, 84 had free trisomy 21 due to meiotic high prevalence of this association in Africa. This is mainly due to non disjunction while 5 cases were due Roberstonian translocation the unfavourable socio-economic conditions in Africa, the lack of in which we detected 3 cases of translocation between both diagnostic genetic laboratories and also prenatal diagnosis to chromosomes 21, one of t(21,22)(q10;q10) and another one of prevent genetic diseases. Therefore, the aim of the present study t(13,21)(q10,q10). In addition, we identified 4 cases of Trisomy 13 contributes to determine the occurrence and pattern of CHD (Patau syndrome), 3 with free trisomy 13 whereas 1 was a associated with genetic abnormalities in pediatric patients using Roberstonian translocation between both chromosomes 13; available cytogenetic diagnostic and echocardiographic facilities in t(13,13)(q10,q10). We also found 7 cases of free trisomy 18 Rwanda. (Edwards syndrome). Two cases of Cat eye syndrome including a mosaic form and 1 case of Turner syndrome were also detected. Figure 1 shows different patients with clinical features Methods characteristic of the identified syndromes. MLPA analysis performed in 22 patients with normal karyotype Patients revealed one case of deletion of 7q11.23 region involved in Our study population was composed of a group of 125 patients from Williams-Beuren syndrome, one case of deletion 13qter and one birth to 15 years; recruited over two years from May 2010 and May case of patient presenting 22q11.2 microdeletion causing DiGeorge 2012. All enrolled patients were selected based on the presence of syndrome) ( Figure 2 ). Fluorescence In Situ Hybridization (FISH) dysmorphic features and/or other clinical signs suggesting of any analysis was used to confirm those cases ( Figure 3 ). In total, genetic defect documented to be associated with CHD; also chromosomal abnormalities represented 84,8% in our cohort ( Table consulting the
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