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Anatomy · Embryology: atrial septation
Sample itemA child with Down syndrome has an atrial septal defect, left axis deviation on the electrocardiogram and mitral regurgitation caused by a cleft in the anterior mitral leaflet. Which developmental failure is responsible?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Failure of the endocardial cushions to fuse with the septum primum
Endocardial cushion defects are common in Down syndrome and the ostium primum defect results when the cushions fail to meet the lower edge of the septum primum. The same cushions contribute to the mitral and tricuspid valves, so a cleft anterior mitral leaflet accompanies it. The conduction pathway is displaced, which explains the left axis deviation.
Option by option
A. Failure of the endocardial cushions to fuse with the septum primum (correct)
Correct. This is an ostium primum defect with a cleft mitral leaflet as part of an atrioventricular septal defect.
B. Failure of the septum primum and septum secundum to fuse
Failure of fusion of the two septa leaves a patent foramen ovale.
C. Incomplete incorporation of the right sinus horn into the right atrium
Abnormal incorporation of the sinus horn leads to a sinus venosus defect near the superior vena cava.
D. Excessive resorption of the septum primum
Excessive resorption of the septum primum causes an ostium secundum defect, which does not cause a cleft leaflet.
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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