February is Marfan Awareness Month: Know the Signs, Get Diagnosed

What is Marfan syndrome?

Marfan syndrome is a genetic disorder that affects the body’s connective tissue—the material that holds cells, organs, and tissues together. It is caused by mutations in the FBN1 gene and can affect multiple organ systems, including the heart and blood vessels, eyes, skeleton, and lungs.

The condition varies widely in severity. Some people experience life-threatening cardiovascular complications, particularly aortic dissection (a tear in the wall of the aorta), while others have milder symptoms. Because symptoms can be subtle or develop over time, many people with Marfan syndrome remain undiagnosed until a serious event occurs.

Why is early diagnosis important?

Early diagnosis of Marfan syndrome is critical. When identified early, people can access regular cardiovascular monitoring, preventive medications, and timely surgical interventions that significantly reduce the risk of aortic dissection and other complications. Early diagnosis also enables family screening, as Marfan syndrome is inherited and each child of an affected parent has a 50% chance of having the condition.

Marfan Awareness Month aims to increase recognition of the signs and symptoms among both the public and healthcare professionals, ensuring more people receive timely diagnosis and life-saving treatment.

What are the signs of Marfan syndrome?

Marfan syndrome affects people differently, but common features include:

Physical features:

• Tall, slender build with long arms, legs, fingers, and toes
• Chest wall abnormalities (sunken or protruding chest)
• Curvature of the spine (scoliosis)
• Flexible joints

Cardiovascular signs:

• Heart murmurs
• Aortic root dilatation (widening of the aorta)
• Mitral valve prolapse

Eye problems:

• Severe near-sightedness
• Dislocated lens
• Early cataracts

Other signs:

• Stretch marks not related to weight changes
• Collapsed lung (spontaneous pneumothorax)

If you or a family member have several of these features, speak to a healthcare professional about genetic testing and referral to a specialist centre. Not everyone with Marfan syndrome has all these features, and symptoms can appear at different ages.

How is Marfan syndrome diagnosed and managed?

Marfan syndrome is diagnosed through clinical evaluation, family history, imaging of the heart and aorta, eye examinations, and genetic testing. Diagnosis is based on internationally recognised criteria that assess features across multiple body systems.

While there is no cure, early diagnosis enables effective management:

• Regular monitoring with echocardiography or MRI to track aortic size
• Medications such as beta-blockers to reduce stress on the aorta
• Preventive surgery when the aorta reaches a size that increases rupture risk
• Eye care including corrective lenses or surgery
• Orthopaedic treatment for skeletal complications
• Lifestyle modifications including avoiding contact sports and activities that strain the cardiovascular system

Multidisciplinary care involving cardiologists, geneticists, ophthalmologists, and other specialists is essential for optimal outcomes.

How does VASCERN support people affected by Marfan syndrome?

VASCERN coordinates specialist care for Marfan syndrome and related heritable thoracic aortic diseases across Europe through its Heritable Thoracic Aortic Diseases (HTAD) Working Group. The network connects expert centres, develops clinical guidelines, supports research, and helps patients access specialist care regardless of where they live in Europe.

For detailed information about Marfan syndrome, including symptoms, diagnosis, treatment options, and living with the condition, visit the VASCERN website:

🢂 Learn more about Marfan syndrome

How do I get involved in Marfan awareness month? 

During February, organisations such as the Marfan Foundation and the Marfan Europe Network encourage individuals, healthcare professionals, and communities to raise awareness through education, advocacy, and sharing personal stories.

The Marfan Europe Network has launched a campaign on their Facebook page for Marfan Awareness Month, where patients from across Europe are sharing their experiences of living with Marfan and Loeys-Dietz syndromes.

🢂 Follow their page to read these stories and join the conversation.

Ways to participate:

• Learn about Marfan syndrome and share information with your community
• Support research and patient organisations
• Connect with patient support networks
• Encourage healthcare professionals to consider Marfan syndrome in patients with suggestive features
• Share awareness campaign materials on social media

Related resources on Marfan syndrome

For patients and families:

• Marfan Syndrome Information (VASCERN) – Symptoms, diagnosis, and treatment
• Find a VASCERN Specialist Centre – Access expert care across Europe
• Find a patient organisation – Access patient support across Europe
• Short Educational videos – Learn more about Marfan syndrome

For healthcare professionals:

• Diagnostic Patient Pathway – Step by step guidance for diagnosis
• Marfan Do’s & Don’ts – Clinical management guidance