How are aortic diseases diagnosed?

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Mark J. Russo, MD
Thoracic Surgery (Cardiothoracic Vascular)

Aortic disease is often insidious. Most people with aortic aneurysms experience no symptoms, unless the aneurysm is extremely large or an aortic dissection occurs. In most cases, aortic disease is discovered incidentally while being tested for other reasons.  
 
15-25% of people with aortic aneurysms have a 1st degree relative with history of aortic disease. Therefore, people with a strong family history of aortic disease or known connective tissue disease, such as Marfan's or Ehlers-Danlos syndrome, should be screened for aortic disease.
 
Other risk factors for aortic disease include: hypertension (aka high blood pressure), high cholesterol, diabetes, cigarette smoking, trauma, and inflammatory diseases of the aorta (aortitis).
 
According to the American Heart Association:

  • Aortic imaging is recommended for first-degree (ego, mother, father, sister, brother, son, or daughter) relatives of patients with thoracic aortic aneurysm and/or aortic dissection to identify those with asymptomatic disease.
  • If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or aortic dissection are found to have thoracic aortic dilatation, aneurysm, and/or aortic dissection, then imaging of second-degree relatives (e.g., aunt, uncle, or cousin) is reasonable.
  • If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or aortic dissection are found to have thoracic aortic dilatation, aneurysm, or aortic dissection, then referral to a geneticist may be considered.
  • If the mutant gene (FBN1, TGFBR1, TGFBR2, COL3A1, ACTA2, MYH11) associated with aortic aneurysm and/or aortic dissection is identified in a patient, first-degree relatives should undergo counseling and testing. Only the relatives with the genetic mutation should undergo aortic imaging.
Stephen R. Hazelrigg, MD
Thoracic Surgery (Cardiothoracic Vascular)
Most aortic aneurysms are diagnosed by a careful physical exam where the doctor feels a pulsatile mass or a lump under the skin in the upper abdomen. Aortic aneurysms are usually confirmed with a simple abdominal ultrasound. Occasionally aneurysms are found on CT scans, or MRI's  that are done for other reasons. An angiogram, which is dye injected into the vascular system, can also be used.

Doctors commonly diagnose aortic aneurysm and dissection using tests including:

  • ultrasound
  • angiography
  • computerized tomography (CT) scan
  • magnetic resonance imagery (MRI)

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.