As February draws to a close, we reflect on Marfan Syndrome Awareness Month and the incredible community that surrounds it. At The Aortic Dissection Charitable Trust, we are proud to have individuals with Marfan syndrome as part of our patient and research teams. Their voices, experiences, and dedication help drive change, improve diagnosis, and support life-saving research.
Understanding Marfan Syndrome
Marfan syndrome is a genetic condition that affects the body’s connective tissue. It is estimated to affect 1 in 5,000 people, yet nearly half of those with the condition remain undiagnosed. In the UK, around 18,000 people live with Marfan syndrome, with a further 1,200 in Ireland.
One of the most serious risks for those with Marfan syndrome is aortic dissection. Individuals with the condition, whether diagnosed or not, are 250 times more likely to experience this life-threatening emergency than the general population. Early diagnosis and proper management can significantly reduce this risk, making awareness efforts all the more critical.
A Community of Strength and Advocacy
The Marfan community is at the heart of our work. Many of our patient advocates, researchers, and supporters have direct experience with the condition. Their insights help shape better care pathways, influence research priorities, and ensure that those at risk receive the attention they need.
This sense of community was on full display at the Marfan International Patient Symposium in London last August. The event brought together patients, families, and medical experts from around the world to share knowledge and strengthen advocacy efforts. It was a powerful reminder of what can be achieved when people unite for a common cause.
Honouring Jonathan Larson’s Legacy
Raising awareness of Marfan syndrome can take many forms, including the arts. This month, Flash Theatre Productions Hereford staged Tick, Tick… Boom! – a musical by Jonathan Larson, the creator of Rent. Larson tragically passed away from an aortic dissection caused by undiagnosed Marfan syndrome. His story is a stark reminder of the importance of early diagnosis.
This production celebrates Larson’s artistic genius and also highlights the urgent need for greater awareness of aortic disease. His legacy continues to inspire change, ensuring that more people receive the diagnosis and care they need before complications arise.
New Guidance
Managing Aortic Disease in Children with Marfan Syndrome
A recent joint statement from the European Reference Network of Vascular Diseases (VASCERN) has provided a new guide on managing aortic disease in children with Marfan syndrome. This research highlights the need for tailored care, as current treatment is largely based on adult guidelines.
Key Findings
- Early Monitoring is Crucial: Regular imaging, including echocardiograms and MRIs, helps track aortic growth and detect problems early.
- Medication Can Slow Aortic Growth: Beta-blockers and angiotensin receptor blockers (ARBs) are recommended to reduce stress on the aorta. Combination therapy may be more effective in children with larger aortas or rapid growth.
- Surgery Should Be Timely: While aortic dissection is rare in children, surgery is advised when the aortic root reaches 50mm, or earlier if risk factors are present. Valve-sparing techniques are preferred to avoid lifelong anticoagulation.
- Exercise Needs Careful Consideration: Competitive sports are generally discouraged, but recreational activities can be safe depending on the severity of aortic disease.
Published by Oxford University Press on behalf of the European Society of Cardiology
As Marfan Syndrome Awareness Month 2025 comes to an end, our commitment to this community remains strong. We will continue to support research, advocate for better diagnosis, and amplify the voices of those living with Marfan syndrome. Together, we can save lives.
If you or someone you know has Marfan syndrome, or if you want to learn more, join our community. Awareness leads to action, and action leads to change.
