Diagnosing HTAD?

Diagnosing HTAD involves bringing together information from a person’s medical history, family history, physical examination, imaging studies, and genetic testing. Because HTAD can be silent for long periods, diagnosis may begin with suspicion rather than symptoms.

HTAD should be considered in individuals who have:

Imaging of the aorta

Imaging is essential to diagnose and monitor HTAD. Common tests include:

Measurements are compared to expected values for a person’s age and body size. Even mildly enlarged aortas may be clinically important in HTAD

Genetic testing

Genetic testing plays a central role in HTAD diagnosis. A multigene panel is usually recommended, testing genes known to be associated with thoracic aortic disease.

Benefits of genetic testing include:

Currently, pathogenic variants are identified in:

Family screening

If HTAD is diagnosed or suspected:

Family screening often detects affected individuals before symptoms develop, allowing preventive care.

Even when genetic testing does not identify a clear cause, HTAD cannot be ruled out. Some genetic contributors have not yet been discovered, and not all disease-causing variants are detectable with current tests. For this reason, imaging of first-degree relatives (parents, siblings, and children) is often recommended when thoracic aortic disease is identified in a family.

Early diagnosis allows for proactive care, including regular imaging, medical therapy to reduce stress on the aorta, and timely surgical intervention when appropriate. It also enables identification of relatives who may be at risk but have not yet developed symptoms.