From the Guidelines
Patients with Marfan syndrome should undergo a transthoracic echocardiogram (TTE) at the time of initial diagnosis and 6 months thereafter to determine the rate of aortic growth, with annual surveillance TTE recommended if the aortic diameters are stable. This approach is based on the recommendations from the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease, which suggests that TTE is the initial imaging modality of choice for assessing aortic root and ascending aorta diameters in patients with Marfan syndrome 1.
If the aortic root, ascending aorta, or both are not adequately visualized on TTE, a CT or MRI of the thoracic aorta is recommended to confirm the aortic diameters and assess the remainder of the thoracic aorta 1. Key points to consider in the monitoring of Marfan syndrome include:
- Initial TTE at diagnosis and 6 months later to assess aortic growth rate
- Annual surveillance TTE if aortic diameters are stable
- Use of CT or MRI if TTE is insufficient for visualization
- Consideration of surveillance imaging every 3 to 5 years for potential abdominal aortic aneurysm (AAA) in patients who have undergone aortic root replacement 1
In patients who have undergone aortic root replacement, surveillance imaging of the thoracic aorta by MRI (or CT) is recommended to evaluate for distal thoracic aortic disease (TAD), initially annually and then, if normal in diameter and unchanged after 2 years, every other year 1. These recommendations prioritize the early detection and management of aortic complications, which are critical for reducing morbidity and mortality in patients with Marfan syndrome.
From the Research
Monitoring of Marfan Syndrome
The recommended tests for monitoring Marfan syndrome include:
- Transthoracic echocardiography 2
- CT 2, 3
- MRI 2, 3
- MR angiography 3
- 4D flow MRI 3, which is an emerging technique that provides hemodynamic information to risk-stratify aneurysms and predict future aortic events
Imaging Techniques
Imaging techniques are necessary to monitor aneurysm growth and determine when to perform prophylactic repair surgery to prevent acute aortic dissection 2. CT and MR angiography are the main imaging modalities for surveillance of the aorta in Marfan syndrome 3.
Surveillance
Routine surveillance with imaging techniques is necessary to monitor aneurysm growth and determine when to perform prophylactic repair surgery to prevent acute aortic dissection 2. Patients with Marfan syndrome require multidisciplinary and multiprofessional care, and nursing implications underscore the importance of screenings, assessments, and close follow-ups to optimize the continuum of care 4, 5.