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The cardiac defect most commonly associated with Down syndrome (trisomy 21) is Atrioventricular defect (AVSD). However, those afflicted with Down are may also present with Atrial septal defects (ASD), Ventricular septal defects (VSD), and Tertology of Fallot.

These cardiac defects in general are caused by neural crest development abnormalities (4th branchial arch and 3rd/4th pharyngeal pouches).

AVSD is essentially a combination of ASD and VSD where all 4 chambers of the heart communicate leading to hypertrophy of each chamber. The resultant right to left shunting from AVSD commonly causes congestive heart failure (CHF) due to increased workload on the heart.

Down patients with AVSD may also present with increase pulmonary vascular resistance due to compensatory pulmonary arteriole constriction. This can essentially prevent CHF by lowering right to left shunting but cyanosis will still persist.

-2nd year medical student

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Q: What is the most common heart defect amongst people with Down syndrome?
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