Management of Marfan Syndrome
Medical Treatment
All patients with Marfan syndrome should receive either a beta-blocker OR an angiotensin receptor blocker (ARB) at maximally tolerated doses to reduce the rate of aortic dilatation. 1 Combination therapy with both a beta-blocker AND an ARB should be considered for enhanced reduction of aortic dilatation rates. 1
Blood Pressure Targets
- Target systolic blood pressure <120 mmHg in all patients 2
- Target systolic blood pressure <110 mmHg in patients with prior aortic dissection 2
Important Caveat
ARBs are contraindicated during pregnancy and must be discontinued before conception. 1 Beta-blockers should be continued throughout pregnancy. 1
Cardiovascular Imaging Surveillance
Initial Evaluation
At diagnosis, perform transthoracic echocardiography (TTE) to measure the aortic annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta, plus assess left ventricular function and all valve function (aortic, mitral, tricuspid). 2 Complete imaging of the entire aorta from head to pelvis using cardiac MRI or CT is required at first evaluation to identify aneurysms throughout the vascular tree. 1
Ongoing TTE Surveillance Frequency
The 2024 European Society of Cardiology guidelines provide the most current evidence-based intervals:
- Aortic root <45 mm WITHOUT additional risk factors: TTE at least annually 1
- Aortic root <45 mm WITH additional risk factors: TTE at least every 6 months 1
- Aortic root ≥45 mm: TTE every 6-12 months 1
Additional risk factors include: family history of aortic dissection, rapid growth rate (>0.5 cm/year), significant aortic regurgitation, or pregnancy planning. 1
Complete Aortic Imaging Surveillance
- Patients without prior aortic surgery: Complete thoracoabdominal and peripheral vascular imaging by MRI or CT every 3-5 years if stable 1
- Patients after aortic root replacement: Thoracic aortic surveillance by MRI (preferred) or CT at least every 3 years 1
Surgical Intervention
Prophylactic Aortic Root Surgery Thresholds
Surgery is indicated when the maximal aortic sinus diameter reaches ≥50 mm. 1 This is the Class I recommendation from the 2024 ESC guidelines, representing the strongest evidence for mortality reduction.
Surgery should be considered at ≥45 mm in the presence of additional risk factors: 1
- Rapid growth rate approaching 1 cm/year 1
- Progressive aortic regurgitation 1
- Family history of early dissection 1
- Growth rate >0.5 cm/year 1
Surgical Technique
Valve-sparing aortic root replacement is the preferred technique when anatomical features allow valve preservation and the surgeon has specific expertise. 1 This approach preserves native valve function and avoids lifelong anticoagulation.
Pregnancy Management
Pre-Conception Requirements
All women with Marfan syndrome must undergo pre-conception cardiovascular evaluation and complete aortic imaging (MRI or CT from head to pelvis). 1 Genetic counseling is mandatory for couples where either partner has or is at risk for heritable thoracic aortic disease. 1
Prophylactic Surgery Before Pregnancy
- Aortic diameter >45 mm: Prophylactic aortic root surgery is required before pregnancy 1
- Aortic diameter 40-45 mm: Prophylactic surgery may be considered 1
During Pregnancy
- Continue beta-blockers throughout pregnancy 1
- Discontinue ARBs before conception 1
- Follow-up frequency determined by aortic diameter and growth rate 1
- All care must occur in a center with access to a pregnancy heart and vessel team 1
The rationale: pregnancy increases hemodynamic stress, and maternal mortality from aortic dissection is significantly elevated when baseline diameter exceeds 40 mm. 2
Physical Activity Recommendations
Individualize physical activity based on three factors: current aortic diameter, family history of aortic dissection, and baseline fitness level. 1
Regular moderate aerobic exercise is recommended for most patients, with intensity level determined by aortic diameter. 1 Avoid high-intensity isometric exercise, contact sports, and activities with risk of chest trauma or sudden blood pressure spikes.
For patients after aortic dissection or surgery, post-operative cardiac rehabilitation targeting both physical and mental health should be considered. 1
Prognosis and Natural History
Without treatment, median survival is 40 years, with progressive aortic dilatation leading to dissection or rupture as the primary cause of death. 2 With contemporary medical and surgical management, life expectancy has improved substantially to 60-70 years. 2 This dramatic improvement underscores the critical importance of early diagnosis, consistent surveillance, appropriate medical therapy, and timely prophylactic surgery.
Multidisciplinary Care Requirements
Beyond cardiovascular management, patients require:
- Ophthalmology: Annual dilated eye examinations for ectopia lentis monitoring 1
- Orthopedics: Assessment and management of scoliosis, pectus deformities, and joint hypermobility 3
- Genetics: Confirmation of FBN1 mutation (identified in 90% of cases) and family counseling 2, 4
The diagnosis is clinical, based on the revised Ghent nosology, requiring major manifestations in two organ systems plus involvement of a third system. 2, 4, 5 Genetic testing is not always required for diagnosis but helps distinguish Marfan syndrome from other heritable thoracic aortic diseases. 4