A child with Down syndrome (trisomy 21) is noted to have a flat facial profile, upslanting palpebral fissures, single palmar crease, and widely spaced first and second toes. Which cardiac defect is most commonly associated with Down syndrome?

• A Tetralogy of Fallot
• B Isolated ventricular septal defect
• C Coarctation of the aorta
• D Atrioventricular septal defect (AVSD) / Endocardial cushion defect ✓

Explanation

Congenital heart disease occurs in approximately 40-50% of children with Down syndrome. The most characteristic and common cardiac defect is the atrioventricular septal defect (AVSD), also called endocardial cushion defect or complete AV canal defect, which involves both an ASD (ostium primum) and VSD along with abnormalities of the AV valves. Early surgical repair is essential. Isolated VSDs and PDAs also occur but AVSD is the hallmark association.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.