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Syndromic forms (such as Marfans, Loeys-Dietz and vascular Ehlers-Danlos syndromes) are not the only forms of genetic aortic disease

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Welcome! Your patients need you to do this. Here's what you should know...

Aortic disease is a genetic disease. It can run in families.

In the 20th centtury, the only genetic aortic disease most healthcare professionals had any awareness of was Marfan syndrome. During the 1990s, the work of Dr. Hal Dietz and others showed that Marfan syndrome is caused by a genetic variation in the FBN1 gene, which is involved in the production of fibrillin, a critical component of the body's connective tissue, including the wall of the Aorta.


In the 21st century, our understanding of the genetic basis of aortic disease has been transformed. We now know of 37 genetic variants implicated in aortic disease. Some estimates suggest that there may be more than 100 in total. We need to expand our knowledge and understanding, because syndromic forms (Marfans, Loeys-Dietz, vascular Ehlers-Danlos and Turner syndromes) are not the only forms of genetic aortic disease, as the diagram below shows:

Useful Resources:

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease

Genetics of Thoracic and Abdominal Aortic Diseases: Aneurysms, Dissections, and Ruptures

Royal Brompton Hospital: Aortopathy & Connective Tissue Gene Panel

UK NHS: R125 Genetic Test Criteria: Thoracic Aortic Aneurysm or Dissection

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