Familial (Genetic) Aortic Disease
Certain conditions that affect the aorta may run in families or have an underlying genetic cause. Some, such as Turner syndrome, have a definitive genetic or chromosomal alteration that puts the individual at risk for developing aortic aneurysm or aortic dissection. Other forms may be evident as a particular family has multiple relatives with aortic disease. These are termed familial aortic disease.
It is important to identify individuals or families that may be at higher risk for aortic problems. By obtaining family histories and sometimes screening family members for aortic conditions, treatment can be initiated before there are life-threatening complications.
Genetic testing is performed in certain individuals, but is not routinely carried out due to expense. Typically, if there is concern for a familial aortopathy, family members are seen by a specialist in aortic diseases and further testing performed as needed.
Services and Programs
Service and programs at Intermountain Heart Institute that help patients with familial aortic disease: