Follow-Up of Aortic Enlargement in Patients With Marfan Syndrome

Marfan syndrome is a hereditary disease affecting the body’s connective tissue, and one of its most serious consequences is early and rapid enlargement of the aorta. In this article I will explain Marfan syndrome and aortic follow-up.

What Is Marfan Syndrome? Physical Features

Marfan syndrome is a genetic disease affecting the connective tissue proteins found in many tissues of the body; our patients often show findings such as tall stature, long and thin fingers, chest wall deformities, increased joint flexibility and displacement of the lens of the eye. However, these physical features may not be equally pronounced in every patient; the diagnosis is made by evaluating clinical findings and genetic tests together.

Connective Tissue Disorder and Aortic Weakness

This weakness in the connective tissue also directly affects the aortic wall; the aortic root and the ascending aorta can enlarge at a much earlier age and much more rapidly than in a healthy individual. For this reason the diameter threshold we use when deciding on aortic root surgery in patients with Marfan syndrome is lower than in the general population; in some situations we may decide to operate at around 4.5-5.0 centimetres.

Genetic Transmission and Family Screening

Marfan syndrome shows autosomal dominant inheritance; that is, about half of the children of an affected parent may carry this gene. For this reason, when Marfan syndrome is diagnosed in a patient, we recommend that first-degree relatives are also screened with genetic counselling and aortic imaging; early diagnosis is the most effective way to prevent a future aortic emergency.

Frequently Asked Questions

Does the aorta enlarge in every patient with Marfan syndrome? In most patients yes, but the rate of enlargement varies from person to person; for this reason regular imaging follow-up is essential.

Can people with Marfan syndrome do sports? Avoiding heavy lifting and contact sports is recommended; which activities are safe is assessed individually.

How is Marfan syndrome diagnosed? It is diagnosed by evaluating clinical findings, eye and cardiac assessment together with genetic test results.

Conclusion

Marfan syndrome is a hereditary disease that affects the aortic wall early and rapidly. Regular aortic imaging and family screening are the most reliable way to prevent an unexpected aortic emergency in these patients.

If you have a diagnosis of Marfan syndrome or this diagnosis is present in your family, you can book an appointment for an aortic assessment.

References

1. Isselbacher EM, Preventza O, Hamilton Black J 3rd, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease. Circulation. 2022;146(24):e334-e482.