Diagnosing Aortic Disease

Screening is recommended for patients with aortic disease or for those who are at a high risk of developing an aortic aneurysm (such as male patients over 65 years with history of smoking; patients with established diagnosis of peripheral vascular aneurysms).  

Undiagnosed aortic disease increases the likelihood of a life-threatening emergency, including aortic dissection and rupture. Lives may be saved when aortic illness is identified early and treatment begins.

Screening tests include:


Who Should Be Screened:

Family Screening is recommended for following patients:

  • All first-degree relatives (parents, siblings and children) of those with bicuspid aortic disease, Loeys-Deitz syndrome, Ehlers-Danlos syndrome, Marfan syndrome and other connective tissue disorders should have a complete aortic checkup. Since these conditions may skip generations, nephews and nieces, grandchildren and other relatives should also be notified and have a complete aortic checkup.
  • Patients with a family history of sudden heart-related death should be investigated. If autopsy reports are available, it will be possible to determine if the death occurred due to aortic disease (aortic rupture or aortic dissection). If no further information is available, all sudden heart deaths should be regarded with suspicion since aortic rupture or dissection may have occurred.
Screening 

Screening for aortic disease usually involves:

  • Providing a detailed medical history of the individual and multiple generations of their family
  • Undergoing diagnostic testing (including echocardiography and CT or MRI scans)
  • Reviewing and understanding test results and medical history
  • Planning appropriate ongoing monitoring, based on whether or not aortic enlargement is present
  • Developing a treatment plan if heart valve conditions are detected or if bicuspid aortic valves are part of a broader-based connective tissue disorder
  • Beginning appropriate systolic blood pressure control and planning for appropriately timed elective surgery (typically when the aneurysm reaches 4.5 cm) if signs of aortic dilation are found


If you have any questions about the screening process for aortic disease or would like to make an appointment for yourself or other family members, please contact us.