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 | ||
| Volume 91, Issue 09, September 2023, Pages 1061-1065 PDF (276.24 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/mjcu.2023.325790 | ||
| Authors | ||
| 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.*; | ||
| The Department of Human Genetics*, Medical Research Institute, Alexandria University and Department of Cardiology & Angiology**, Faculty of Medicine, Alexandria University | ||
| Abstract | ||
| 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. | ||
| Keywords | ||
| Congenital heart defects; Down syndrome; Prevalence; Gender | ||
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