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Gold standard case presentation
Atrial septal defect
There are two types of ASD, ostium secundum and ostium primum. The former is the most common, and is sometimes due to fenestrated ASD (i.e. multiple small defects). Ostium primum is less common, but is often seen in patients with Down’s syndrome. It is also associated with mitral regurgitation.
Small defects, such as those associated with ostium secundum have also been described as machinery murmurs. In ostium primum defects, the pulse may be collapsing and there may be a possible mid-diastolic tricuspid flow murmur.
ECG changes with ASD include an rSr pattern in the right precordial leads as well as right axis deviation (with ostium secundum defects) whereas left axis deviation is associated with ostium primum defects.
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Question 1 of 5
1. Question1 point(s)
This patient has subtle phenotypic evidence of a genetic illness. Which one?
Question 2 of 5
2. Question1 point(s)
Why do you think this patient has relatively subtle features of Down syndrome?CorrectIncorrect
Question 3 of 5
3. Question1 point(s)
Which of the following causes Down syndrome?CorrectIncorrect
Question 4 of 5
4. Question1 point(s)
What is the commonest cardiovascular abnormality encountered in Down syndrome?CorrectIncorrect
Question 5 of 5
5. Question1 point(s)
What did you hear on auscultation (difficult)?CorrectIncorrect