Question 1 · Medium
A 3.8-kg boy born to a mother with poorly controlled diabetes is deeply cyanosed within hours of birth, and oxygen barely improves his saturation. Chest X-ray shows a narrow upper mediastinum giving an 'egg on a string' heart. Which developmental error explains this?
- AAnterosuperior displacement of the infundibular septum
- BFailure of the truncus to divide at all
- CFailure of the aorticopulmonary septum to spiral
- DDownward displacement of the tricuspid valve
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Answer: C · Failure of the aorticopulmonary septum to spiral
Transposition of the great arteries results from the aorticopulmonary (conotruncal) septum growing straight instead of spiralling, so the aorta arises from the right ventricle and the pulmonary trunk from the left. The two circulations run in parallel, and survival depends on mixing through the foramen ovale, ductus arteriosus or a septal defect. It is the commonest cyanotic lesion presenting in the first days of life and is associated with maternal diabetes. Prostaglandin E1 keeps the duct open and balloon atrial septostomy improves mixing before the arterial switch operation.
- A: Infundibular septal displacement causes tetralogy of Fallot, which usually presents later.
- B: Complete failure of division gives persistent truncus arteriosus with a single outflow vessel.
- D: Downward displacement of the tricuspid valve is Ebstein anomaly, linked with maternal lithium.