22q11.2 Deletion CHD — RACP Paediatrics MCQ

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ModerateGenetics & Metabolic22q11.2 Deletion CHDRACP Paediatrics

A 2-year-old child is diagnosed with 22q11.2 deletion syndrome (DiGeorge syndrome). What cardiac anomaly is most commonly associated?

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Correct answer: D — Conotruncal anomalies (interrupted aortic arch, truncus arteriosus, TOF, VSD)

22q11.2 deletion syndrome: conotruncal heart defects are the hallmark cardiac anomalies (interrupted aortic arch type B, truncus arteriosus, TOF, VSD with aortic arch anomalies). Other features include palatal anomalies, hypocalcaemia (hypoparathyroidism), thymic aplasia/hypoplasia (T-cell immunodeficiency), learning difficulties, and psychiatric disorders.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics