Marfan syndrome in childhood and the teenage years

A baby with Marfan syndrome may look entirely typical. The features most people recognise, such as a tall slim frame, long arms, legs and fingers, flexible joints, flat feet and a chest that sinks in or protrudes, tend to develop with growth. The NHS describes these skeletal features along with a small lower jaw, high palate and crowded teeth.

Because severity varies so widely, one child may need little more than a yearly check while a sibling has early heart or eye findings. Children with a parent who has the condition are often seen by a specialist before any symptoms appear, so that surveillance can begin straight away.

The NHS explains that diagnosis rests on a thorough examination and a detailed medical and family history. Clinicians use a set of criteria, often called the Ghent criteria, that weigh major features such as aortic enlargement, lens dislocation and skeletal findings against minor ones such as stretch marks or loose joints.

A genetic test of the fibrillin gene can support the diagnosis and, according to the NHS, finds the change in 99 of 100 affected people, although the diagnosis usually still depends on clinical findings. Because signs emerge gradually, doctors may say a child has possible or evolving Marfan syndrome and repeat the assessment as they grow. This uncertain period is stressful for families, and asking the team what is being watched and when it will be reviewed makes it easier to manage.

• Echocardiogram to see the heart valves and measure the aorta.

• Eye examination by an ophthalmologist to look for lens dislocation.

• MRI where needed, for blood vessels or to look at the lining of the spinal cord.

• Genetic testing and counselling for the child and, where relevant, other family members.

The aorta is the most serious area of concern. The NHS describes regular echocardiograms to follow the heart structure and aortic width, with beta blockers, or angiotensin receptor blockers as alternatives, used to slow enlargement. Aortic replacement surgery is reserved for people whose aorta becomes severely enlarged.

Eye problems are common. The NHS lists lens dislocation, short-sightedness, glaucoma, cataract and retinal detachment among them. Short-sightedness is corrected with glasses or contact lenses, and children benefit from regular examinations because an uncorrected focus problem can affect schoolwork before anyone notices. A sudden curtain-like shadow, flashes of light or a sudden loss of vision needs same-day eye assessment.

Scoliosis, a sideways curve of the spine, is a regular feature during growth spurts. The NHS says mild curves are monitored, children may wear a brace for 23 hours a day, and surgery is considered for curves above 40 degrees, using growing rods in young children or spinal fusion in teenagers and adults. The NHS also lists spondylolisthesis, where a vertebra slips, and dural ectasia, a weakening of the membrane around the spinal cord that can cause backache, headaches and leg symptoms.

A markedly sunken breastbone that presses on the lungs can be treated with surgery to lift the breastbone and hold it with a metal bar, while a protruding chest generally needs no treatment. Joint pain, most often in the hips, is managed with moderate exercise, simple pain relief and physiotherapy.

Most children can attend school as normal. The main adjustment is around activity, because heavy exertion strains the aorta and a blow to the head can worsen lens dislocation or retinal detachment. The Marfan Foundation recommends low-intensity, low-impact activity adapted to the individual and advises against contact and competitive sport; the NHS gives long-distance running, heavy weightlifting, gymnastics, climbing and scuba diving as activities to avoid.

Fatigue, back and joint pain and the emotional weight of a long-term diagnosis can all affect teenagers. The NHS notes that GPs can connect families with the Marfan Trust and counselling. Planning the move from paediatric to adult services in the teenage years, with a named adult cardiologist, avoids gaps in surveillance.