Familial thoracic aortic aneurysms and dissections refers to a genetic predisposition to thoracic aortic aneurysm or dissection in the absence of other syndromes, such as Marfan or Loeys-Dietz. Studies show that there is a higher rate of aortic aneurysm or dissection among people who have relatives who have experienced this condition, which suggests a genetic link.
In families with a genetic history of aortic aneurysms or dissections, it is recommended that family members at risk have their aortic root (first part of the ascending aorta) monitored by echocardiography (picture using sound waves to evaluate the size of the root and how the aortic valves are working) and the parts of the aorta further from the heart, specifically the aortic arch and descending aorta monitored by CT scan or MRI at least once a year.
Once an aortic aneurysm or dissection is detected, imaging may be performed more often. The frequency is based on several parameters and is different for each patient. For example, more frequent monitoring is required if the aneurysm continues to increase in size, if rapid growth is observed, if the aneurysm approaches critical size, if aortic valve function is compromised, or if the individual’s aorta is approaching a size at which there is a family history of aortic dissection or rupture.
Because aortic dilation occurs in a subset of individuals with bicuspid aortic valves, yearly monitoring by echocardiogram to assess valve function and aortic root diameter is recommended.
Medication, such as beta-blockers, to lower blood pressure and decrease the forcefulness of the heartbeat are often recommended to slow enlargement or to, hopefully, prevent dissection of the aorta.
If the aortic diameter increases rapidly or reaches a critical size (between 4.5 – 5.0 cm), elective surgery is recommended to prevent rupture. This involves surgically replacing the damaged portion of the aorta and sometimes repairing or replacing of the aortic valve. Elective surgery, prior to a dissection, is usually very successful in centers where there is experience with the procedure.
In addition to absolute size, the rate of growth of the aorta, function of aortic valve, and family history of dissection are used to determine the timing of elective repair.
Aortic dissection requires immediate medical attention. In some instances, management with medication is possible. Surgery may be required, depending on the location and the medical circumstances.
If a person experiences an aortic dissection, all first-degree relatives (parents, siblings, children) should be evaluated for familial aortic aneurysm or other conditions that can cause aortic dissection.
In addition to the above information created by the Marfan Foundation, we recommend the video “Aortic Dissection at Any Age: The Tyler Kahle Story.” This moving and powerful video addresses one family’s story of loss related to Familial Thoracic Aortic Aneurysms and Dissections, and how they have partnered with the hospital to prevent missed aortic dissection in the future. This video was produced by Methodist Hospital in Omaha, NE.
You may also wish to visit The John Ritter Foundation for Aortic Health, founded by John’s widow Amy Yasbeck and his family to raise awareness of aortic dissection.