Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome
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- Category: Vol. 91, September 2023
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Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome, RANIA F. ELNAHAS, SOHA KHOLEIF, NAHLA NAZMY, MOHAMED I. SANHOURY, ESRAA REFAAT, HEBA OSSAMA, NEHAL HELMY, RASHA EL KHRADLY and GHADA ELHADY
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.