دورية أكاديمية

Pattern of congenital heart diseases in Rwandan children with genetic defects

التفاصيل البيبلوغرافية
العنوان: Pattern of congenital heart diseases in Rwandan children with genetic defects
المؤلفون: 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
المصدر: Pan African Medical Journal; Vol. 19 No. 1 (2014) ; 1937-8688
بيانات النشر: African Field Epidemiology Network
سنة النشر: 2016
المجموعة: AJOL - African Journals Online
مصطلحات موضوعية: Congenital heart disease, genetic defects, pediatric patients, Rwanda
الوصف: 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.Key words: Congenital heart disease, genetic defects, pediatric patients, Rwanda
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: English
العلاقة: https://www.ajol.info/index.php/pamj/article/view/134432/124037Test; https://www.ajol.info/index.php/pamj/article/view/134432Test
الإتاحة: https://www.ajol.info/index.php/pamj/article/view/134432Test
رقم الانضمام: edsbas.3312471E
قاعدة البيانات: BASE