Down syndrome – echo at diagnosis — RACP Paediatrics MCQ

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EasyCardiologyDown syndrome – echo at diagnosisRACP Paediatrics

A 2-year-old is diagnosed with Down syndrome. When should cardiac screening be performed?

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Correct answer: C — Echocardiography screening at diagnosis

All children with Down syndrome should have echocardiography at diagnosis (ideally neonatal) regardless of clinical findings, as ~50% have CHD (most commonly AVSD). Clinical examination alone misses significant lesions. Even if the neonatal echo is normal, awareness of later-developing conditions (mitral valve prolapse) is important.

Reference: RCH Melbourne – 2023 – Down Syndrome CPG; RACP Paediatric Curriculum – Genetics/Cardiology