Clues to a Specific Diagnosis

In the second category of general appearance, clues to a specific underlying cardiovascular diagnosis, examples include: Down's syndrome associated with septal defects; the tall, thin habitus of Marfan's syndrome associated with aortic dissection; and the fatty skin deposits of xanthelasma associated with hypercholesterolemia and atherosclerosis.

This is an example of the appearance of a patient with Down's syndrome, or trisomy 21, who has an ostium primum type of atrial septal defect.