Types and Distribution of Congenital Heart Defects in Pediatric Patients with Down’s Syndrome: A Retrospective Study

Background Congenital heart disease (CHD) is common in patients with Down’s syndrome (DS), rendering them at risk of significant mortality and morbidity. However, all patients with confirmed DS must undergo further investigation for a cardiac anomaly early in their lives. Objective To define frequency and patterns of CHD among children with DS in Northwest, Saudi Arabia (SA). Methods A five-year chart review study was conducted in Northwest SA between January 2015 and June 2019. We included all children referred to the pediatric cardiology clinic with a confirmed diagnosis of DS and CHD. Children were identified in the clinic’s database, and charts were reviewed retrospectively. Results Among 851 patients with CHD, 53 were identified with DS. Male patients represented 62.3%, while female patients represented 37.7%. The median patients’ age at the time of diagnosis was two days, with most patients diagnosed before 28 days old (67.9%). This study found that atrial septal defect (ASD) and patent ductus arteriosus (PDA) were the most common isolated lesions (37% of isolated cases), while the most common combined lesions were ASD, ventricular septal defect (VSD), and PDA, as well as combined ASD and VSD. Female gender was significantly associated with higher percentage of VSD (p = 0.031) more than male. While male patients had significantly higher percentages of ASD and valvular anomalies than female patients (p = 0.019 and 0.033, respectively). Conclusions The patient’s gender was significantly associated with some types of CHD. Both ASD and valvular lesions were more common among males, while VSD was more common among female patients, no gender differences were detected regarding the other types of CHD.