Scoliosis in Marfan Syndrome

What it is

Marfan syndrome is an inherited condition of connective tissue, the material that gives strength and stretch to ligaments, blood vessels, bone, and the eye. It comes from a change in the FBN1 gene. The spine is one of the places it shows most often: roughly half of people with Marfan syndrome develop scoliosis, and many also have a rounded upper back (kyphosis), a flattened mid-back, or a slipped vertebra in the low back. This guide is about the spine. For the condition as a whole, including how it is diagnosed, see my guide to Marfan syndrome.

The most important thing to know is that the heart leads. The aorta, the main artery leaving the heart, can slowly widen in Marfan syndrome. Every spine decision I make for a patient with Marfan syndrome is made with the cardiologist, because the condition of the aorta decides how safe surgery is and how it is done.

How it is different from ordinary scoliosis

Scoliosis in Marfan syndrome looks like teen scoliosis on the surface, but it does not follow the same rules:

• It starts earlier and grows faster. Curves often appear before age 10 and can progress during growth and, with large curves, after it.
• The shape is often unusual. Double and triple curves are common, and curves may bend the "wrong" way, to the left in the chest.
• Bracing helps less. A brace can still be worth trying for a moderate curve in a growing child, but it fails more often than in idiopathic scoliosis. I set expectations honestly.
• The bones and the lining of the spine are different. The pedicles, the small bony bridges where screws are placed, are often thin. The sac of fluid around the spinal cord is often enlarged (dural ectasia), which thins the bone from the inside and makes a spinal fluid leak more likely during surgery.
• Pain is more common. Dural ectasia can cause low back pain, headaches, or leg pain, and loose joints and flat feet add strain.

How we measure and follow it

Standing X-rays of the whole spine measure the curves and the side view. An MRI of the whole spine is part of my plan for most patients, to look at the fluid sac, the top of the neck, and the base of the skull, where Marfan syndrome can cause instability. Growth is tracked with the hand and pelvis X-rays as in any scoliosis. Visits are more frequent than for an idiopathic curve of the same size, because these curves move faster.

How we treat it

• Observation for small curves, with closer rechecks than usual.
• Bracing for moderate curves in a growing child, with a frank conversation about its lower success rate. Physical therapy for posture and core strength supports comfort but does not change the curve.
• Surgery for large curves, usually a posterior spinal fusion. It is the same operation used for idiopathic scoliosis but planned differently: longer fusions to avoid the curve "adding on" above or below, careful choice of the top and bottom levels to lower the risk of a new curve forming at the edge, more anchor points because the bone is thinner, and a plan for the fluid sac. Heart clearance, blood pressure control, and anesthesia planning come first.
• Vertebral body tethering has been used in a small number of patients with Marfan syndrome. The evidence is limited, and loose ligaments can lead to overcorrection. I discuss it when it could fit, with that honesty.

What many families have not heard yet

• Dural ectasia changes the surgical plan. The enlarged fluid sac can hollow out the back of the vertebrae and the sacrum. It is not dangerous by itself, but it raises the chance of a spinal fluid leak and limits where screws can go. Knowing about it before surgery, from the MRI, is what keeps it from becoming a surprise.
• Problems above and below the fusion are the main long-term risk. In Marfan syndrome, the spine next to a fusion is more likely to tilt forward (proximal junctional kyphosis) or to curve below the fusion. The best protection is choosing the fusion levels carefully at the first operation.
• The chest wall is part of the picture. A sunken or protruding breastbone is common in Marfan syndrome. The chest surgeon and I plan the order of operations together when both need treatment.
• Look-alikes matter. Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome can resemble Marfan syndrome but carry higher risks to blood vessels and the neck. Genetic testing is part of a careful workup, and I make sure it has been done.
• Sports are decided by the heart, not the spine. For most activities, the aorta sets the limits. The cardiologist and I give one shared answer about contact sports, weight training, and straining.
• Anesthesia needs a plan. Loose joints, a high-arched palate, a tall narrow chest, and the risk of a collapsed lung all matter to the anesthesiologist. They get the full picture well before surgery day.
• Bone strength can be lower. Many people with Marfan syndrome have low bone density. Vitamin D, calcium, and sometimes a bone density test are part of getting ready for a fusion.
• The spine still needs attention in adulthood. Curves above about 50 degrees can keep moving slowly after growth ends, and dural ectasia and disc wear can cause symptoms later. Long-term follow-up is worthwhile even without surgery.

The science: for the curious

Fibrillin-1 is a building block of the tiny fibers that give connective tissue elasticity. When it is faulty, ligaments are looser, bone is lighter, and the sheath around the spinal cord stretches under the normal pressure of spinal fluid, especially at the bottom of the spine where that pressure is highest when standing. That is the origin of dural ectasia. Published series of spinal fusion in Marfan syndrome show good correction with modern screw constructs, with higher rates of spinal fluid leak, fixation problems, and junctional problems than in idiopathic scoliosis. Those findings are exactly why the planning steps above exist.

Learn more

The Marfan Foundation, Scoliosis and the spine: marfan.org (opens in a new tab)

Scoliosis Research Society, Patient Brochures: srs.org/patients (opens in a new tab)

My guide to Marfan syndrome covers how the condition is diagnosed and the other parts of the body it affects.

More for families

OrthoKids · POSNA

POSNA's OrthoKids: illustrated, family-friendly information on this condition.

Open on OrthoKids (opens in a new tab)

Scan for the OrthoKids page

This handout is general education and does not replace the personalized advice we discuss in clinic about your child's specific case. If anything here does not match what we talked about, what we talked about wins: please ask me.