My family member has been diagnosed with aortic disease, should I also be screened for an aortic condition?
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 (eg, 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 (eg, 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.