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"I have been diagnosed with a thoracic aortic aneurysm. How do I know if something genetic is at work or if my condition is an anomaly? Where can I go to get tested? What about genetic testing for my family?"
Genetics - Hereditary Aortic and Vascular Disease
Genetic triggers are known to play an important role in causing thoracic aortic aneurysms, aortic dissections, and other related vascular diseases. Identifying the underlying genetic risk factors for aortic and vascular disease can be done through genetic counseling and testing. Being able to pinpoint the genetic cause of disease through genetic testing can lead to a personalized treatment and management plan for someone who has been diagnosed with aneurysms and dissections affecting the aorta and other arteries. This information also helps identify family members who are at risk for developing an aneurysm or dissection so their healthcare team can implement a proactive screening and management plan to prevent the life-threatening effects of aortic dissections.
Signs of genetically-triggered aortic and vascular disease are not always obvious and many individuals diagnosed with aneurysms or dissections do not know that they have a genetic predisposition. Individuals are at increased risk to have a genetic predisposition if they have any one of the following: 1) A family history of aneurysms, dissections, or early cardiac-related deaths, 2) Another member of the family who has been diagnosed with a genetic condition that predisposes to aortic disease, 3) A thoracic aortic aneurysm or dissection diagnosed at an early age, typically before 60 to 65 years of age, or 4) Physical signs of an aortic genetic syndrome such as Marfan syndrome, Loey-Dietz syndrome or Vascular Ehlers-Danlos syndrome. However, many people with genetic predispositions have little to no outward physical signs of a genetic syndrome. Genetic counseling can help to clarify risk.
UTHealth has a multidisciplinary aortic and vascular genetics team of experts dedicated to evaluating and caring for individuals with hereditary aortic and vascular disease. Our team includes providers from cardiothoracic and vascular surgery, cardiology, and medical genetics. Many individuals with genetic predispositions have other risk factors for aortic disease such as high blood pressure and bicuspid aortic valves, who require a multidisciplinary team to ensure comprehensive care.
The John Ritter Research Program in Aortic and Vascular Disease, directed by Dr. Dianna Milewicz at UTHealth, is an ongoing research study focused on identifying and studying the genes associated with thoracic aortic aneurysms and dissections. The goal of this research is to better understand the genetic risk factors for thoracic aortic disease to improve diagnosis and treatment and ultimately, prevent aortic dissections. For more information about this research, please email JRRP.firstname.lastname@example.org.