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

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

Marfan syndrome is a genetic connective tissue disorder that affects the protein fibrillin throughout the body. Because fibrillin helps give structure to bones, ligaments and blood vessels, people with Marfan syndrome are often tall with long limbs and can develop scoliosis, heart valve problems and eye issues. Cardiac monitoring is the single most important part of ongoing care.

Key takeaways

  • Marfan syndrome is caused by a change in the gene that makes fibrillin, a protein found in connective tissue throughout the body.
  • Heart and aorta monitoring is the top clinical priority, as aortic enlargement can be life-threatening if missed.
  • Scoliosis affects roughly half of all people with Marfan syndrome because the ligaments that stabilise the spine are looser than normal.
  • Standing, weight-bearing imaging shows spinal curves as they truly load, which lying-down scans can underestimate.
  • 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 widely, even within the same family. They tend to involve the skeleton, the heart and blood vessels, and the eyes. The common thread 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 disproportionately long relative to the trunk.
Chest wall changes 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.
Aortic enlargement The aorta, the main artery from the heart, can gradually widen. This is the most serious feature.
Joint laxity 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 not until well into adulthood. Diagnosis usually follows the revised Ghent criteria, which weigh up skeletal, cardiac, eye and genetic findings together.

Why is cardiac monitoring the top priority in Marfan syndrome?

Because the aorta can enlarge silently and, if untreated, may tear or rupture. Regular echocardiograms (heart ultrasound scans) are the cornerstone of Marfan care. Your cardiologist or specialist Marfan clinic will set the schedule. If you notice sudden, severe chest or back pain, seek emergency medical help immediately by calling 999 or going to A&E.

Everything else, including spinal monitoring, sits alongside cardiac care, not instead of it. The rest of this page focuses on the skeletal side, particularly 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 less supportive. Research suggests that roughly half of people with Marfan syndrome have some degree of scoliosis. The curves can progress more quickly during growth spurts, but adults with Marfan syndrome may also see gradual progression over the years.

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

Other skeletal features linked to Marfan syndrome

Beyond 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, particularly in the lower back. This can cause aching or numbness.
  • Protrusio acetabuli. The hip socket can push too far inward, potentially causing hip stiffness or pain over time.
  • Flat feet. Weakened arches change how weight is distributed up through the legs and into the spine.

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

How does standing imaging help monitor a Marfan spine?

Standing, weight-bearing imaging captures your spine under real-life loading, with gravity and your muscles working to hold you upright. Traditional X-rays or MRIs taken lying down relax the muscles and can allow a curve to flatten, underestimating its true size. For someone with Marfan syndrome, whose connective tissue is already lax, this difference can be significant.

You stand naturally. Gravity loads the spine the way it does in daily life. Lax ligaments allow the curve to show its full extent. The EOS system captures 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 removed. Muscles relax. A scoliotic curve may partially correct itself, giving a misleadingly optimistic picture. Standard lying-down imaging also captures only one region at a time, so it cannot show how your spine, hips and legs align as a whole.

At ScanAlign, low dose standing imaging, the EOS system produces a full-body alignment view. Your reporting radiologist can assess the scoliosis alongside pelvic tilt, hip position and leg length in one image. This whole-chain view is particularly useful in Marfan syndrome, where multiple skeletal areas may be affected at once.

When is MRI the better tool? 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 imaging at different points in their care.

If you have Marfan syndrome and want to understand how your spine and alignment look under real loading, 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 produces the protein fibrillin-1. Fibrillin is a key building block of connective tissue. The condition is inherited in most cases, but around one in four people have a new mutation with no family history.

Diagnosis typically follows the revised Ghent criteria, which consider 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 progress over time, particularly if the connective tissue is very lax.

Yes. Unlike some forms of scoliosis that stabilise once growth is complete, Marfan-related curves can continue to progress slowly in adulthood. Periodic monitoring helps your specialist decide if or when to intervene.

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, and 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 primarily affects collagen. Some symptoms overlap, particularly joint laxity, but the heart and eye features differ.

When you lie down, gravity is removed and muscles relax. A spinal curve can partially flatten, making it look smaller than it really is. Standing imaging captures the curve under real loading, giving a more accurate picture, especially important when ligaments are lax.

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 appropriate for you.

Pricing details are available on the ScanAlign website. Your free video consultation will also confirm exactly what is included.

Understand your alignment, standing up

If you have Marfan syndrome and want a clear picture of how your spine, hips and legs align under real loading, 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.