Marfan Syndrome

Overview

Marfan syndrome is a hereditary connective-tissue disorder caused by a mutation in the FBN1 gene, which affects the production of fibrillin-1 – a protein that gives elasticity to blood vessels, ligaments and other tissues. People with Marfan tend to be tall and slim with long limbs and fingers, but the condition can also affect the heart (aortic enlargement), eyes (lens dislocation) and skeleton (scoliosis, chest-wall deformities). Early diagnosis and specialist monitoring are essential to prevent serious complications such as aortic aneurysm or dissection.

At Royal Buckinghamshire Hospital, our multidisciplinary team offers comprehensive assessment, ongoing monitoring and personalised care plans to help patients with Marfan syndrome live active, healthy lives.

Causes

• Genetic mutation in FBN1 (autosomal-dominant inheritance)
• Around 25 % of cases arise spontaneously (no family history)
• Each child of an affected parent has a 50 % chance of inheriting the condition

Key Signs & Symptoms

Severity varies, but common features include:

Diagnosis

Our consultants follow internationally accepted Ghent criteria and use:

• Detailed family and medical history
• Physical examination (anthropometric measurements, joint flexibility)
• Echocardiogram & MRI/CT to measure aortic dimensions
• Eye examination by an ophthalmologist
• Genetic testing to confirm FBN1 mutation and enable family screening

Management & Treatment at Royal Buckinghamshire Hospital

Medical management

• Beta-blockers or angiotensin-receptor blockers (e.g., losartan) to slow aortic enlargement
• Regular blood-pressure monitoring and lifestyle guidance (avoid high-impact sports)

Surgical & interventional care

• Elective aortic-root or valve-sparing surgery if the aorta reaches threshold size
• Orthopaedic or chest-wall surgery for severe skeletal issues
• Lens-replacement surgery if significant visual impairment

Rehabilitation & support

• Physiotherapy and posture advice to manage musculoskeletal pain
• Occupational therapy for joint-protection strategies
• Psychological support and genetic counselling for patients and families

Our team co-ordinates care across cardiology, cardiothoracic surgery, orthopaedics, ophthalmology and physiotherapy, ensuring seamless follow-up in a private, patient-centred setting.

Why Choose Royal Buckinghamshire Hospital?

• Consultant-led Marfan monitoring with rapid access to imaging
• On-site cardiac MRI, CT and echo for precise aortic measurements
• Multidisciplinary clinics covering heart, eye, and orthopaedic needs
• Personalised lifestyle, exercise and pregnancy counselling
• Minimal waiting times and comfortable private facilities

Early, proactive management is key to preventing complications. If you or a family member have been diagnosed with—or are at risk of—Marfan syndrome, contact our specialist team today.

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