All Genetic Mutations Resulting in Familial Thoracic Aortic Aneurysms and Dissections

question 5

Multiple Choice

All genetic mutations resulting in familial thoracic aortic aneurysms and dissections (TAAD) appear to be inherited in an autosomal dominant manner. What is the risk that parents, siblings, and offspring of a proband will be affected?

• A) 25%
• B) 50%
• C) 75%
• D) 100%

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Definitions:

Ossicle

Small bones, particularly referring to the three bones found in the middle ear: the malleus, incus, and stapes.

Otoscopy

A medical examination technique that involves looking inside the ear using an instrument called an otoscope.

Electronystagmography

A diagnostic test that records involuntary movements of the eye (nystagmus) to assess the vestibular system.

Tympanometry

A test that measures the movement of the eardrum in response to changes in air pressure, used to diagnose issues in the middle ear.