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Objectives: To describe the frequency and spectrum of congenital heart defects (CHD) and pulmonary hypertension among pediatric patients with Down syndrome (DS) in Saudi Arabia.  Methods: A cross-sectional, retrospective study of the cardiac anomalies among pediatric patients (0-18 years) with DS had been seen and evaluated in one center from August 2001 to October 2020. The demographic data, the reason for referral, echocardiography data including presence and type of CHD, systolic function, atrioventricular regurgitation, and pulmonary hypertension (PHTN) were analyzed.  Results: Among the 468 pediatric patients with DS, 275 (58.8%) had one or more congenital heart defects (CHD). The most common types of CHD among DS pediatric patients were ventricular septal defect (29.45%), atrial septal defect (ASD) secundum (26.9%) and atrioventricular septal defect (AVSD) (22.9%), and moderate to large patent ductus arteriosus (PDA) (9.1%). Pulmonary hypertension analyzed in children older than two months of age and was present in 21.5% of patients with CHD and 2.2% of patients with no CHD. Multivariate logistic regression showed the presence of AVSD, large PDA, and ASD secundum which all independent predictors of pulmonary hypertension.  Conclusion: Almost 60% of DS patients have CHD with pulmonary hypertension which affect almost one-fifth of patients with CHD. AVSD, hemodynamically significant PDA, and ASD secundum were the most common lesions associated with pulmonary hypertension.

Congenital Heart Defect and Pulmonary Hypertension in Children With Down Syndrome: Clinical Profile Over Two Decades