From the Guidelines
For Marfan syndrome follow-up, patients should undergo regular vascular imaging, with the frequency and modality determined by their aortic root diameter and presence of additional risk factors, as outlined in the 2024 ESC guidelines 1.
Key Recommendations
- Patients with an aortic root diameter <45 mm should have transthoracic echocardiography (TTE) at least annually in the absence of additional risk factors, and at least every 6 months in the presence of additional risk factors.
- Patients with an aortic root diameter ≥45 mm should have TTE at least every 6-12 months in the absence of additional risk factors.
- Complete peripheral vascular and thoracoabdominal aorta imaging by CMR or CCT and DUS is recommended at the first evaluation, and subsequently every 3-5 years if stable.
- Patients who have undergone aortic root replacement should have surveillance imaging of the thoracic aorta by CMR (or CCT) at least every 3 years.
Medical Therapy
In addition to regular imaging, patients with Marfan syndrome should be treated with either a beta blocker or an angiotensin receptor blocker (ARB) to reduce the rate of aortic dilation, as recommended by the 2022 ACC/AHA guideline 1.
Lifestyle Modifications
Patients with Marfan syndrome should also undergo lifestyle modifications, including:
- Avoiding contact sports, isometric exercises, and activities that dramatically increase blood pressure
- Maintaining a healthy weight
- Avoiding smoking
- Limiting caffeine
- Regular dental care due to palate abnormalities
- Genetic counseling for family planning
- Annual eye exams to check for lens dislocation and retinal problems
- Orthopedic evaluations every 1-2 years to monitor scoliosis and joint issues.
From the Research
Follow-up for Marfan Syndrome
- Marfan syndrome is a multisystemic hereditary connective tissue disease that can lead to aortic root aneurysms and dissections, which are the most common and life-threatening cardiovascular disorders affecting these patients 2.
- Patients with Marfan syndrome often require consecutive operations on the remaining thoracic aorta or the heart valves after initial aortic root surgery, with a high continued need for additional operative procedures even decades after the initial surgeries 3.
- Beta-blocker therapy is commonly used to prevent aortic dissection in Marfan syndrome, but its efficacy is still debated, with some studies showing no significant reduction in the incidence of aortic dissection or mortality 4.
- Losartan, an angiotensin II receptor blocker, has been proposed as a new therapeutic tool to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome, with some studies showing a significant reduction in aortic root diameter compared to control groups 2, 5.
- A systematic review of the pharmacological management of aortic root dilation in Marfan syndrome found that beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers can slow the progression of aortic dilation, but more methodologically rigorous studies are needed to evaluate the impact of drug therapy on clinical outcomes 6.
Treatment Options
- Beta-blockers: may slow the progression of aortic dilation, but their efficacy in preventing aortic dissection or mortality is still debated 4, 6.
- Losartan: may be associated with a significantly smaller change in aortic root diameter in patients with Marfan syndrome, but its effect on clinical outcomes such as aortic surgery, dissection, or mortality is still unclear 2, 5.
- Angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers: may have a more significant effect on slowing the progression of aortic dilation than beta-blockers, but more studies are needed to confirm this 6.
Monitoring and Follow-up
- Long-term patient monitoring at specialized centers is imperative for patients with Marfan syndrome, as they often require consecutive operations and have a high continued need for additional operative procedures 3.
- Regular follow-up with echocardiography and other imaging modalities is necessary to monitor aortic root diameter and detect any potential complications early 3, 2.