What are the current guidelines for the management of aortic dilation in patients diagnosed with Marfan syndrome?

Management of aortic dilation in patients with Marfan syndrome involves regular monitoring and medical therapy aimed at slowing the progression of aortic enlargement to prevent complications such as dissection or rupture. Although specific UK guidelines for Marfan syndrome aortic dilation are not detailed in the provided NICE guideline on abdominal aortic aneurysm ¹, the principles of managing thoracic aortic dilation in Marfan syndrome are well established in contemporary literature.

Patients diagnosed with Marfan syndrome should undergo regular imaging surveillance, typically with echocardiography or MRI, to monitor aortic root size and detect progressive dilation early. Medical therapy primarily includes beta-blockers to reduce aortic wall stress and slow dilation. Angiotensin receptor blockers (ARBs), such as losartan, have also been shown to be beneficial in reducing the rate of aortic root enlargement by modulating transforming growth factor-beta (TGF-β) signaling pathways implicated in Marfan pathophysiology (Kocyigit et al., 2021).

Surgical intervention is considered when the aortic root diameter reaches a threshold that significantly increases the risk of dissection, commonly around 5.0 cm, or earlier if there is rapid growth (>0.5 cm per year) or family history of dissection at smaller diameters. Elective aortic root replacement surgery is the definitive treatment to prevent catastrophic events. The decision for surgery should be individualized based on patient risk factors and imaging findings (Kocyigit et al., 2021).

While the NICE guideline ¹ focuses on abdominal aortic aneurysm management, its principles of surveillance, risk stratification, and timely surgical referral are applicable to aortic dilation in Marfan syndrome. The guideline emphasizes the importance of imaging surveillance programs and balancing surgical risks with benefits, which aligns with the management approach in Marfan patients.

In summary, current management of aortic dilation in Marfan syndrome integrates regular imaging surveillance, medical therapy with beta-blockers and/or ARBs to slow progression, and timely surgical intervention based on aortic size and growth rate. This approach is supported by contemporary literature (Kocyigit et al., 2021) and aligns with general vascular management principles outlined in UK guidelines ¹.