Expert Cardiology Part 3

Question 18/28
What is Barth’s syndrome?
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Question 18/28
What is Barth’s syndrome?

Barth’s syndrome in an inherited disorder in an X-linked fashion. The cardiac component includes dilated cardiomyopathy which can at times cause severe systolic congestive heart failure. This is related to a mutation in the tafazzin gene which encodes for an acetyltransferase used in lipid metabolism.

Barth’s syndrome features also include a short stature, immunodeficiency from neutropenia and muscle weakness.

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