It's Aortic Disease Awareness Month - Genetics
🧬❤️ WHEN AORTIC DISEASE IS IN YOUR DNA
Why do some people develop an aortic aneurysm or experience an aortic dissection—sometimes at a younger age and without the typical risk factors?
For some patients, part of the answer may be genetics.
Our genes help determine how the tissues that make up the aortic wall are built, maintained, and repaired. Certain genetic changes can affect the strength and function of that wall, increasing the risk of thoracic aortic aneurysm and dissection (TAAD).
Some of the better-known inherited conditions associated with aortic disease include:
🔴 MARFAN SYNDROME — FBN1Marfan syndrome is caused by changes in the FBN1 gene, which affects fibrillin-1, an important component of connective tissue. People with Marfan syndrome can develop enlargement of the aortic root and are at increased risk for aortic dissection.
🔴 LOEYS-DIETZ SYNDROME — TGF-β PATHWAY GENESLoeys-Dietz syndrome can result from changes in several genes involved in TGF-β signaling, including TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, and TGFB3. Aortic aneurysms and arterial problems can occur throughout the vascular system, making lifelong surveillance especially important.
🔴 VASCULAR EHLERS-DANLOS SYNDROME — COL3A1Vascular Ehlers-Danlos syndrome, or vEDS, is usually caused by changes in the COL3A1 gene, which affects type III collagen. This can cause significant fragility of arteries and certain organs and increase the risk of arterial aneurysm, dissection, and rupture.
đź”´ TURNER SYNDROMETurner syndrome is a chromosomal condition involving complete or partial absence or structural alteration of one X chromosome. It is associated with an increased risk of cardiovascular abnormalities, including bicuspid aortic valve, coarctation of the aorta, aortic dilation, and aortic dissection.
But here's something incredibly important:
🧬 You do NOT have to have a recognizable connective-tissue syndrome to have genetically triggered aortic disease.
There are families in which thoracic aortic aneurysms and dissections occur without the physical characteristics associated with conditions such as Marfan or Loeys-Dietz syndrome. This is often referred to as heritable thoracic aortic disease (HTAD).
Changes in genes such as ACTA2, MYH11, MYLK, PRKG1Â and others can predispose someone to thoracic aortic aneurysm or dissection. In some families, several generations may be affected.
And sometimes there is a strong family history even though current genetic testing does not identify a specific disease-causing variant. Genetics is an evolving field, and we still don't have every answer.
❤️ This is why FAMILY HISTORY matters.
If a parent, sibling, or child has experienced an aortic aneurysm or dissection—or your family has a history of unexplained sudden death—tell your healthcare team.
Depending on your history, genetic counseling, genetic testing, and aortic imaging of certain family members may be recommended.
One person's aortic diagnosis may provide information that helps protect an entire family.
🧬 Know your genes. Know your history. Know your aorta.
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