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What Is Marfan Syndrome, and Why Is Scoliosis Common With It? ScanAlign private EOS imaging clinic, Harley Street, London
Spine & Back

What Is Marfan Syndrome, and Why Is Scoliosis Common With It?

Marfan syndrome is a genetic connective tissue disorder. It affects a protein called fibrillin throughout the body. Fibrillin helps give structure to bones, ligaments and blood vessels. So people with Marfan syndrome are often tall with long arms and legs, and they can develop scoliosis, heart valve problems and eye problems. Heart monitoring is the single most important part of ongoing care.

Key points

  • Marfan syndrome is caused by a change in the gene that makes fibrillin, a protein found in connective tissue throughout the body.
  • Monitoring the heart and aorta is the top medical priority, because an enlarged aorta can be life-threatening if it is missed.
  • Scoliosis affects roughly half of all people with Marfan syndrome, because the ligaments that keep the spine stable are looser than normal.
  • Standing, weight-bearing scans show spinal curves as they truly carry load. Scans taken lying down can make them look smaller.
  • EOS imaging uses about 90% less radiation than a standard X-ray, around ten times less, making it well suited to repeated monitoring.

What are the main symptoms of Marfan syndrome?

The symptoms of Marfan syndrome vary a lot, even within the same family. They usually involve the skeleton, the heart and blood vessels, and the eyes. What links them is that connective tissue, the scaffolding that holds your body together, is weaker or stretchier than it should be.

Tall, slim build with long limbs Arms, legs and fingers are often unusually long compared with the trunk.
Changes in the chest wall The breastbone may push outward (pectus carinatum) or sink inward (pectus excavatum).
Eye problems The lens of the eye can slip out of place (lens subluxation), and short-sightedness is common.
Enlarged aorta The aorta, the main artery from the heart, can slowly widen. This is the most serious feature.
Loose joints and flat feet Joints may be unusually flexible and the arches of the feet can flatten, similar to hypermobile Ehlers-Danlos syndrome.

Not everyone with Marfan syndrome has every feature. Some people are diagnosed in their teens. Others are not diagnosed until well into adult life. Diagnosis usually follows the revised Ghent criteria, which look at skeletal, heart, eye and genetic findings together.

Why is heart monitoring the top priority in Marfan syndrome?

Because the aorta can enlarge without any symptoms and, if it is not treated, may tear or burst. Regular echocardiograms (heart ultrasound scans) are the foundation of Marfan care. Your cardiologist or specialist Marfan clinic will set how often you need them. If you notice sudden, severe chest or back pain, get emergency medical help immediately by calling your local emergency number or going to the nearest emergency department.

Everything else, including spine monitoring, sits alongside heart care, not in place of it. The rest of this page is about the skeleton, especially scoliosis, but your heart and aorta always come first.

Why does scoliosis develop in Marfan syndrome?

Scoliosis develops in Marfan syndrome because the ligaments and connective tissue that normally hold the spine straight are looser and give less support. Research suggests that roughly half of people with Marfan syndrome have some degree of scoliosis. The curves can get worse more quickly during growth spurts. But adults with Marfan syndrome may also see the curve slowly get worse over the years.

What Is Marfan Syndrome, and Why Is Scoliosis Common With It? ScanAlign clinic illustration

Other skeletal features linked to Marfan syndrome

Besides scoliosis, the spine and skeleton can be affected in other ways:

  • Dural ectasia. The membrane around the spinal cord (the dura) can stretch and balloon, especially in the lower back. This can cause aching or numbness.
  • Protrusio acetabuli. The hip socket can push too far inward. Over time, this may cause hip stiffness or pain.
  • Flat feet. Weakened arches change how weight passes up through the legs and into the spine.

The body works as a connected chain. So a change at one level, such as the hip socket or the feet, can shift alignment somewhere else. Pain often appears away from the area that is actually causing the problem.

How does a standing scan help monitor the spine in Marfan syndrome?

A standing, weight-bearing scan shows your spine under real-life load, with gravity acting on it and your muscles working to hold you upright. Usual X-rays or MRI scans taken lying down relax the muscles. This can let a curve flatten, so it looks smaller than it really is. For someone with Marfan syndrome, whose connective tissue is already loose, this difference can be large.

You stand naturally. Gravity loads the spine as it does in daily life. Loose ligaments let the curve show its full size. The EOS system takes a full-length image from head to feet in a single pass, using about 90% less radiation than a standard X-ray, around ten times less. That lower dose matters when you need repeated scans over the years.

You lie flat. Gravity is taken away. Muscles relax. A scoliosis curve may partly straighten by itself, giving a picture that looks better than it really is. A standard lying-down scan also shows only one area at a time. So it cannot show how your spine, hips and legs line up as a whole.

At ScanAlign, low dose standing imaging, the EOS system produces a full-body view of your alignment. Your reporting radiologist can look at the scoliosis together with pelvic tilt, hip position and leg length in one image. This view of the whole chain is especially useful in Marfan syndrome, where several parts of the skeleton may be affected at once.

Before you start a treatment, or change the one you are on, it is worth getting a detailed diagnosis. Knowing whether the cause sits in the pelvis, the legs or the spine changes what will actually help.

When is MRI the better choice? EOS shows bones, joints and alignment. For soft tissue, discs, the spinal cord or dural ectasia, MRI is usually the better choice. Many people with Marfan syndrome benefit from both types of scan at different stages of their care.

If you have Marfan syndrome and are thinking of coming to London to see how your spine and alignment look under real load, a standing scan can help. A specialist radiographer will review your situation before you book.

Book a free video consultation

Frequently asked questions about Marfan syndrome and scoliosis

Marfan syndrome is caused by a change (mutation) in the FBN1 gene, which makes the protein fibrillin-1. Fibrillin is a key building block of connective tissue. In most cases the condition is inherited, but around one in four people have a new mutation with no family history.

Diagnosis usually follows the revised Ghent criteria. These look at skeletal features, heart and aorta findings, eye examination results, family history and, in some cases, genetic testing. A specialist Marfan clinic coordinates these assessments.

Studies suggest that roughly half of people with Marfan syndrome develop some degree of scoliosis. The curves can range from mild to significant and may get worse over time, especially if the connective tissue is very loose.

Yes. Some types of scoliosis settle once growth is complete. Marfan-related curves, however, can keep getting worse slowly in adult life. Regular monitoring helps your specialist decide if or when to step in.

Dural ectasia is a stretching or ballooning of the dura, the protective membrane that surrounds the spinal cord. It is common in Marfan syndrome, especially in the lower spine. It can cause lower back aching, leg pain or numbness. MRI is the standard way to assess it.

No. Both are connective tissue disorders, but they affect different proteins. Marfan syndrome involves fibrillin, while hypermobile Ehlers-Danlos syndrome mainly affects collagen. Some symptoms overlap, especially loose joints, but the heart and eye features are different.

When you lie down, gravity is taken away and muscles relax. A spinal curve can partly flatten, so it looks smaller than it really is. A standing scan shows the curve under real load and gives a more accurate picture. This is especially important when ligaments are loose.

EOS uses about 90% less radiation than a standard X-ray, around ten times less. This lower dose makes it well suited to repeated scans when long-term monitoring is needed.

No. ScanAlign accepts self-referrals. You start with a free video consultation with a specialist radiographer, who reviews your history and confirms that a scan is right for you.

The price for patients travelling from abroad is confirmed during the free video consultation.

Understand your alignment, standing up

If you have Marfan syndrome and want a clear picture of how your spine, hips and legs line up under real load, a free video consultation is the first step.

Book a free video consultation

Written by Abbas Dhami (Specialist Diagnostic Radiographer)

Sources

  1. Loeys BL, Dietz HC, Braverman AC, et al. "The revised Ghent nosology for the Marfan syndrome." Journal of Medical Genetics. 2010;47(7):476-485.
  2. The Marfan Trust. "What is Marfan Syndrome?" marfantrust.org (accessed 2025).
  3. NHS. "Marfan syndrome." nhs.uk/conditions/marfan-syndrome (accessed 2025).

This page is general information and not a diagnosis.

ScanAlign is the trading name of CoreMed Solutions Ltd and operates under The Harley Street Hospital's CQC licence.