Genetic Disorders Associated With Aortic Disease

Connective Tissue Disorders

A number of the genetic conditions that lead to aortic complications are connective tissue disorders. Connective tissue refers to the fibers that support, anchor and provide flexibility to your organs and other structures in your body, including your blood vessels, bones, muscles and ligaments. When connective tissue does not form correctly, it can lead to cardiovascular, musculoskeletal, gastrointestinal and skin problems.

Each different connective tissue disorder is caused by a unique genetic mutation. Connective tissue disorders that can lead to aortic disease include:

• Loeys-Dietz Syndrome (LDS): People born with Loeys-Dietz syndrome typically have unique facial features, such as widely spaced eyes, eyes that do not point in the same direction (strabismus), and an opening in the roof in the mouth (cleft palate).
• Marfan Syndrome: People with Marfan syndrome may be unusually tall and slender; have loose joints; and experience cardiovascular, vision and other health issues.
• Ehlers-Danlos Syndrome (EDS): Ehlers-Danlos syndromes (EDS) comprise a group of genetic conditions that cause abnormal collagen function. Individuals with EDS may have increased joint mobility and fragile skin that breaks easily.

People with any of the above connective tissue disorders are at risk to develop the following aortic diseases:

• Aortic aneurysm: An aortic aneurysm is a bulge that forms as a result of a weakening of the wall of the aorta. Aortic aneurysms can occur anywhere in the aorta and may be round (saccular) or tube-shaped (fusiform). Most often, they develop at the aortic root (the section where the aortic artery joins the heart). Over time, aortic aneurysms are at risk to burst (aneurysm rupture); a ruptured aneurysm is life-threatening event.
• Aortic dissection: Aortic dissection is a tear in the inner layer of the three-layer wall of the aorta. The tear allows blood to surge into the middle layer, which increases the size of the tear and leads to further separation and possible rupture. Aortic dissection can cause decreased blood flow to the body’s vital organs or a ruptured aorta, which can be fatal.

Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder that causes small fluid-filled sacs called cysts to grow in the kidneys. Although people who have ADPKD are born with the condition, the disease rarely causes noticeable problems until the cysts grow large enough to affect kidney function. Many people with ADPKD experience kidney failure by age 60.

Symptoms of ADPKD include high blood pressure, back or side pain, and a swollen abdomen. In addition, People with APKD are at a higher risk for aortic aneurysm and aortic dissection.