Objectives: To to define the frequency and patterns of
congenital heart disease (CHD) among children with
Down syndrome (DS) in Northwest Saudi Arabia.
Methods: We included children with confirmed
DS referred to the regional pediatric cardiology
unit in Madinah Maternity and Children Hospital
between January 2008 and December 2013.
Children were identified from the unit’s data-base
and the charts were reviewed retrospectively. We
excluded term and preterm children with patent
ducts arteriosus (PDA) and persistent foramen oval
spontaneously resolved during the first 4 weeks of life.
Results: A total of 302 children with DS were identified
(50.3% male). Of these, 177 (58.6%) had CHD.
Atrioventricular septal defect (AVSD) was the most
frequent lesion identified in 72/177 (40.7%) followed by
mixed left to right shunt defects (14.7%) and secundum
atrial septal defect (ASD) (11.8%). Ventricular septal
defect was detected in 10.7% and 8.5% had PDA beyond
the neonatal period. There was no gender difference
in the frequency of CHD (p=0.9) and the presence of
CHD was not related to the genetic cause of DS (p=0.9).
Conclusion: The frequency of CHD in our DS cohort is
comparable with Europe, Asia ,and other KSA regions.
However its pattern appears to be different from some
areas in KSA.