Congenital Heart Diseases in Saudi Down Syndrome Children: Frequency and Patterns in Almadinah Region

Congenital Heart Diseases (CHDs) occur in about 40-50% of neonates born with Down syndrome. Increased incidence of CHDs in children with Down syndrome in certain populations has been associated with widespread consanguinity. Up till now there is no explanation for why some Down syndrome patients are susceptible to CHDs. This study aims to evaluate the frequency and patterns of CHDs in Down syndrome children at Almadina province in the west of Saudi Arabia and compare it with other previously reported studies. The study included Down syndrome children referred to the pediatric cardiology clinic for screening of CHDs. Full history taking, pedigree analysis and clinical examination were done to all cases. Parental consanguinity was documented and echocardiography was done to assess the cardiac lesions. Out of 110 Down syndrome children, 45 (40.9%) had CHDs were selected. Parental consanguinity was present in 26/45 (57.8%). The most frequent lesion was AVSD (33.3%), followed by VSD (22.2%), then ASD (13.3%), PDA was present in 8.8% and TOF was diagnosed in one case. The most common combination of cardiac lesions in Down syndrome cases included in this study was ASD with VSD. Conclusion: The frequency of CHDs in Down syndrome children from Almadina province in the west of Saudi Arabia was similar to those reported worldwide. The most frequent lesion diagnosed in this study was AVSD. The CHDs were slightly more frequent in Down syndrome children born to consanguineous parents.