The Department of Human Genetics*, Medical Research Institute, Alexandria University and Department of Cardiology & Angiology**, Faculty of Medicine, Alexandria University
Abstract Background: Approximately half of all Down syndrome (DS) infants have a congenital heart defect (CHD), including atrioventricular septal defects (AVSD), atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of Fallot (ToF). Aim of Study: The study aimed to determine the prevalence, cardiovascular phenotypes, and gender differences in CHD associated with DS in Alexandria, Egypt. Patients and Methods: The present study is a retrospective descriptive single-centre study included 722 DS patients attending the Human Genetics clinic, Medical Research Institute, Alexandria University. Data were retrieved from the medical files of DS patients. Results: CHD was present in 59% of DS patients. The most common were ASD (42.3%) and AVSD (25.1%). CHDs were more frequent in females, including total CHDs (p=0.03, OR: 1.393), ASD (p=0.043, OR: 1.417), AVSD (p=0.034, OR: 1.56), and severe CHDs (p=0.024, OR: 1.544). Conclusion: CHDs are more prevalent in female DS patients. Gender differences may imply a role of sex in the association between CHD and DS.
MOHAMED I. SANHOURY, M.D.**; ESRAA REFAAT, M.D.*; HEBA OSSAMA, M.D.*;, N. H. M. R. E. K. P. A. G. E. P., & RANIA F. ELNAHAS, M.D.*; SOHA KHOLEIF, M.D.*;, N. N. M. (2023). Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome. The Medical Journal of Cairo University, 91(09), 1061-1065. doi: 10.21608/mjcu.2023.325790
MLA
NEHAL HELMY, M.Sc.*; RASHA EL KHRADLY, Ph.D.* and GHADA ELHADY, Ph.D.* MOHAMED I. SANHOURY, M.D.**; ESRAA REFAAT, M.D.*; HEBA OSSAMA, M.D.*;; NAHLA NAZMY, M.D.*; RANIA F. ELNAHAS, M.D.*; SOHA KHOLEIF, M.D.*;. "Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome". The Medical Journal of Cairo University, 91, 09, 2023, 1061-1065. doi: 10.21608/mjcu.2023.325790
HARVARD
MOHAMED I. SANHOURY, M.D.**; ESRAA REFAAT, M.D.*; HEBA OSSAMA, M.D.*;, N. H. M. R. E. K. P. A. G. E. P., RANIA F. ELNAHAS, M.D.*; SOHA KHOLEIF, M.D.*;, N. N. M. (2023). 'Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome', The Medical Journal of Cairo University, 91(09), pp. 1061-1065. doi: 10.21608/mjcu.2023.325790
VANCOUVER
MOHAMED I. SANHOURY, M.D.**; ESRAA REFAAT, M.D.*; HEBA OSSAMA, M.D.*;, N. H. M. R. E. K. P. A. G. E. P., RANIA F. ELNAHAS, M.D.*; SOHA KHOLEIF, M.D.*;, N. N. M. Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome. The Medical Journal of Cairo University, 2023; 91(09): 1061-1065. doi: 10.21608/mjcu.2023.325790