Marfan syndrome

MARFAN SYNDROME

Marfan syndrome (MFS) is a genetic condition that affects the body’s connective tissue. It is a heritable connective tissue disorder (HCTD). Connective tissue is the material that helps hold everything in place, like bones, blood vessels, eyes, and organs. People with MFS are usually tall and slim with long arms, legs, fingers, and toes.

The condition is caused by a change in a gene called FBN1, which affects a protein called fibrillin-1. This protein helps give strength and flexibility to parts of the body like the heart and blood vessels.

MFS can affect both children and adults. It can be inherited from a parent, but it can also occur in someone with no family history.

CTDNA downloadable Marfan syndrome flyer – print this short flyer to share within your network as a way of introducing MFS. 

Key signs and symptoms

Marfan syndrome can look different in each person. It can affect many parts of the body, including:

• Heart and blood vessels: The most serious problem is enlargement of the aorta (the main artery that carries blood from the heart). This can be life-threatening if it tears (called a dissection). Valve problems, such as mitral valve prolapse, are also common.
• Bones and joints: People are often tall and slim with long fingers and arms. They may have a curved spine (scoliosis), flat feet, chest that sticks out or is sunken (pectus excavatum or carinatum), and flexible joints (generalised joint hypermobility).
• Eyes: The lens of the eye can move out of place (called ectopia lentis), and people may be short-sighted or have an increased risk of eye problems like glaucoma or retinal detachment.
• Other features: Some people have stretch marks on their skin, back pain due to changes in the spine (dural ectasia), or may be more likely to have a collapsed lung.

Diagnosis

Doctors use a mix of tests and checklists to diagnose MFS. They will look at:

• Your medical history and symptoms
• Your family history
• Scans of your heart and blood vessels (like an echocardiogram or MRI)
• Eye exams
• Genetic testing

Doctors use a set of international rules called the Ghent criteria to help decide if someone has MFS. Key features include aortic enlargement and lens dislocation. If these are present — and no other condition explains them — the diagnosis can usually be made. Genetic testing should be performed to confirm a suspected diagnosis of MFS. 

Treatment and Management

There is no cure for MFS, but with the right care, people can live long, healthy lives.

• Heart monitoring: Regular heart scans are important to check for aortic enlargement or valve problems.
• Medication: Medicines like beta-blockers (e.g. atenolol) or angiotensin receptor blockers (e.g. losartan) can help slow the growth of the aorta.
• Surgery: If the aorta gets too big, surgery may be needed to prevent a tear or rupture.
• Activity: Contact sports or heavy lifting should usually be avoided, but gentle exercise like swimming, walking or cycling is encouraged with your doctor’s advice.
• Multidisciplinary care: A team of health professionals (like cardiologists, eye doctors, and genetic specialists) can help manage MFS over time. An individual’s healthcare team, and the specialists and allied health professionals overseeing care and management for someone with MFS may change over time.

Support 

Living with MFS can be challenging at times, but support is available. It’s helpful to:

• See specialists regularly for routine screening and surveillance
• Talk to a genetic counsellor if you’re planning a family
• Join a support group — to connect with others who understand what it’s like living with, or caring for someone with MFS
• Look after your mental health, especially if you’re adjusting to a new diagnosis or facing surgery

MFS in Australia 

Marfan syndrome is a rare disease, as such people living with, or otherwise impacted by MFS can contact The Rare Helpline, a telephone based support service operated by Rare Voices Australia’s (RVA). 

CTDNA is working to raise awareness of MFS and other HCTDs, to advocate for care pathways that are better coordinated, and support individuals and families impacted by these conditions via the provision of education and information.

Please review our Resources page for more useful information and links. 

There is a Marfan condition page also on Healthdirect.

For more information about MFS, research updates, and global community resources, visit the larger international patient advocacy group, The Marfan Foundation’s website. 

References

The Marfan Foundation. Diagnostic criteria: Marfan DX. Available from: https://marfan.org/dx/

Morris SA, Flyer JN, Yetman AT, et al. Cardiovascular management of aortopathy in children: A scientific statement from the American Heart Association. Circulation. 2024;150:e228–e254. https://www.ahajournals.org/doi/epub/10.1161/CIR.0000000000001265

Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85. https://jmg.bmj.com/content/jmedgenet/47/7/476.full.pdf