Aortic Disease – Genetics
Hereditary Aortic and Vascular Disease
Genetic triggers play an important role in causing thoracic aortic aneurysms, aortic dissections, and other related vascular diseases. Identifying the underlying genetic cause of aortic and vascular disease through genetic testing enables that person’s healthcare team to develop a personalized medical management plan. This information also helps identify family members who are at risk for developing an aneurysm or dissection in the future so their healthcare providers can proactively implement a screening and management plan to prevent the life-threatening complications from 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 and with a personal or family history of aortic disease should consider genetic counseling and testing if they have any of the following: 1) Family history of aneurysms, dissections, and early sudden deaths 2) An aneurysm or dissection of the aorta or other artery diagnosed at an early age, typically before 60 years, or 3) Physical signs of a genetic syndrome such as Marfan syndrome, Loey-Dietz syndrome or Vascular Ehlers-Danlos syndrome. However, many people with heritable aortic and vascular disease (HTAD) have no outward physical signs of a genetic syndrome. Genetic testing and counseling can help clarify risk.
UTHealth has a multidisciplinary aortic and vascular genetics team of experts dedicated to evaluating and caring for individuals with HTAD. Our core team includes providers from cardiothoracic and vascular surgery, cardiology, and medical genetics. Many people with HTAD have other risk factors for aortic disease such as high blood pressure (hypertension) or a bicuspid aortic valve (BAV), requiring a multidisciplinary team for comprehensive care. To request an appointment in the multidisciplinary aortic and vascular disease clinic (MAVC), please contact us at email@example.com or 713-500-6715.
The John Ritter Research Program in Aortic and Vascular Disease, directed by Dr. Dianna Milewicz at UTHealth, is focused on identifying genetic and other risk factors that contribute to thoracic aortic aneurysms and dissections. The goal of this research is to better understand these risk factors to improve diagnosis and treatment strategies and ultimately, prevent aortic dissections. For more information about this research, please email JRRP.firstname.lastname@example.org.