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Anatomy · Embryology: tetralogy of Fallot
Sample itemA cyanotic infant has a systolic ejection murmur and a boot-shaped heart on radiography. Echocardiography confirms tetralogy of Fallot. Which embryological defect underlies the four features?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Anterosuperior displacement of the infundibular (conal) septum
In tetralogy of Fallot the infundibular septum is displaced anteriorly and superiorly, which narrows the right ventricular outflow and creates a malaligned ventricular septal defect with an overriding aorta. Right ventricular hypertrophy follows from the outflow obstruction. Neural crest cell abnormalities are implicated in this misalignment.
Option by option
A. Failure of the endocardial cushions to fuse with the septum primum
Failure of cushions to fuse with the septum primum causes an ostium primum atrial septal defect.
B. Anterosuperior displacement of the infundibular (conal) septum (correct)
Correct. The displaced septum produces pulmonary stenosis, a VSD, an overriding aorta and right ventricular hypertrophy.
C. Failure of the truncal ridges to fuse to divide the truncus
Failure of the truncal ridges to fuse causes persistent truncus arteriosus.
D. Failure of the aorticopulmonary septum to spiral
Failure of the septum to spiral causes transposition of the great arteries.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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