Screening for family members

If a family member is diagnosed with a thoracic aortic aneurysms or aortic dissection, other family members related by blood may also be at risk to develop thoracic aortic aneurysms or dissections. Genetic counseling, imaging for asymptomatic aortic aneurysms and genetic testing can be used to identify other family members at risk for thoracic aortic disease.

Whether there is a family history or not, relatives at risk for thoracic aortic disease should have imaging for aortic aneurysms. Screening involves imaging of the thoracic aorta with an appropriate type of scan; echocardiogram, a computed tomography angiogram (CTA), or a magnetic resonance angiogram (MRA). The imaging study should include detailed pictures of the aortic root and the ascending aorta. If the ascending aorta cannot be visualized by echocardiogram, a CTA or MRA may be needed. Aortic imaging is particularly important for anyone with a family history of thoracic aortic disease who is pregnant or actively trying to get pregnant. Echocardiograms or MRAs are OK during pregnancy, but CTAs are not recommended during pregnancy because they can expose the baby to radiation. You can

Screening of family members can prevent premature deaths if aneurysms are detected and treated, and therefore prevents aortic dissections. Treatment involves routine imaging and medications to decrease the rate of growth of the aneurysm. When an aneurysm reaches the size that it is at risk for dissecting, surgical repair of the aneurysms is recommended. This treatment plan is highly effective for preventing aortic dissection.

Your provider can refer to the 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients with Thoracic Aortic Disease to see these recommendations.

In families where a gene change, or ‘pathogenic variant’ (a disease-causing mutation that you are born with) has been found, clinical management to prevent a dissection is indicated for all family members who carry the variant.

Alternative modes of screening, frequency of screening, and location of screening (other arteries outside of the aorta) may depend on the underlying gene or a person’s family history. Early identification of an aortic aneurysm can help reduce risk for developing major complications, such as aortic dissection.

Share screening recommendations with your at-risk family members