Hereditary Thoracic Aortic Disease (HTAD)
- HTAD accounts for ~20-25% of all thoracic aortic aneurysms and dissections.
- Most individuals with HTAD do not have additional associated features (non-syndromic).
- HTAD presents at a younger age and is more aggressive than other TAA.
- Appropriate recognition of HTAD allows initiation of imaging surveillance in at-risk relatives.
- A positive genetic test result can help guide pharmacotherapy, determine vascular regions which require ongoing imaging surveillance, influence surgical threshold, and allow for cascade testing of at-risk relatives.
- In most families with HTAD, genetic testing does NOT identify the responsible genetic variant. Thus negative testing does not exclude HTAD and at-risk relatives would still need ongoing imaging surveillance.
- Pharmacological management for those with TAA may include:
- beta-blockers or angiotensin receptor blockers to limit aneurysmal dilation.
- avoidance of medications and recreational drugs with potential vasoactive effect (e.g. triptans, cocaine).
- Fluoroquinolones should be avoided where possible in anyone with or at risk for aortic aneurysms of any type because of the associated increased risk of aortic dissection.
- Participation in competitive sports and isometric exercises are advised against.
Here is a point of care tool containing a checklist with who to consider for referral of a genetic assessment.
More on HTAD can be found in the comprehensive GECKO deep dive and the concise GECKO on the run.
