What the Cardiologist Needs to Know About Marfan Syndrome

What the Cardiologist Needs to Know About Marfan Syndrome

 

Guest: Juan Bowen, M.D.

Host: Malcolm Bell, M.D.

 

The prevalence of Marfan syndrome is estimated to be 1 in 5,000 people. Approximately 75% of cases are inherited and 25% are de novo mutations. Marfan syndrome is caused by mutations in the gene encoding for fibrillin 1. Management includes protection of the aorta with medication, surveillance imaging, and timely preventive aortic repair. Extracardiac problems are less lethal but affect quality of life.

 

Topics Discussed:

• What are the physical findings in Marfan syndrome?
• What is the relationship of fibrillin 1 to the TGF beta pathway?
• Which medications have been shown to have aortic protective effects?
• When should patients have aortic repair?
• How is pregnancy managed in Marfan syndrome?
• How should non cardiac problems be managed?

 

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Podcast episode transcript found here.

 

Recorded on: 14-January-2026