74. 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.