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CHD in Down Syndrome — RACP Paediatrics MCQ

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EasyGenetics & MetabolicCHD in Down SyndromeRACP Paediatrics

A newborn has hypotonia, upslanting palpebral fissures, epicanthic folds, single palmar crease, sandal gap toes, and a grade 2/6 systolic murmur. What congenital heart defect is most commonly associated with this syndrome?

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Correct answer: C — AVSD (endocardial cushion defect)

Down syndrome (trisomy 21): AVSD is the most common congenital heart defect (approximately 40% of CHD in Down syndrome). Other common CHDs include VSD, ASD, PDA, and TOF. All neonates with trisomy 21 should have an echocardiogram regardless of the presence or absence of a murmur.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Down Syndrome