Abstract
To characterize congenital heart defects in individuals with Down syndrome (DS) in the Western Region of Saudi Arabia, and compare with studies from other regions of Saudi Arabia and with international figures.
We conducted a prospective study including all patients attending the DS clinic at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia between October 2007 and October 2011. All patients underwent full history and physical evaluations, dysmorphologic assessment, chromosomal studies, and echocardiography.
A total of 130 individuals (59% males and 41% females) with ages ranging between 0-33 years (mean=5+/-4.9) were included. Most individuals (90.9%) had trisomy 21 due to non-disjunction, 5.05% due to Robertsonian translocation, and 4% had mosaicism. Congenital heart defects were found in 86.8% of patients. The majority 71/92 (77%) showed combined cardiac defects, while 21/92 (23%) of DS patients had isolated congenital heart defects (CHD). The most frequent CHDs detected in this study were: patent ductus arteriosis in 44/92 (47.8%), atrial septal defect in 38/92 (41.3%), trivial tricuspid regurge in 31/92 (33.7%), ventricular septal defect in 27/92 (29.3%), and patent foramen oval in 26/92 (28.3%).
We found a higher incidence of CHDs among DS individuals from the Western Region, compared to national and international figures. We detected more combined CHD and a different pattern of distribution.