Noonan syndrome - Treating Noonan syndrome

There is no cure for Noonan syndrome. However, it is possible to treat certain aspects of the disorder.

Congenital heart disease

A full assessment of your child's heart function should be carried out as soon as Noonan syndrome has been diagnosed. This will help determine the recommended treatment for your child’s congenital heart disease.

Pulmonary stenosis

In cases of pulmonary stenosis that are causing no or few symptoms, a policy of ‘watchful waiting’ may be recommended. This means your child will receive no immediate treatment but their heart will be carefully monitored.

In more serious cases of pulmonary stenosis a small, flexible tube, known as a catheter, can be inserted to the site of the pulmonary valve. A small balloon is passed up through the catheter and inflated to widen the affected valve. This procedure is known as a balloon angioplasty. Once the valve has been widened, the balloon is removed. Sometimes a replacement valve is required.

Hypertrophic cardiomyopathy (HCM)

There are several treatments available for hypertrophic cardiomyopathy (HCM). The recommended treatment will depend on the severity of your child’s symptoms and the general state of their heart. In many cases of Noonan syndrome it will be worse in infancy but improve with age. Possible treatments include using:

medication, such as beta-blockers, to help stabilise the functions of the heart
surgery to remove or destroy some of the excess heart muscle

Septal defects

As with pulmonary stenosis, watchful waiting is usually recommended for small septal defects. Many defects close by themselves as a child gets older.

In cases of mild to medium sized septal defects, it may be possible to seal the hole using a catheter. The catheter is guided to the site of the hole and then a specially designed mesh is passed through the catheter to seal it.

In cases of medium to large sized septal defects, open heart surgery will probably be required. This involves a patch being stitched directly over the hole.

Read more information about treating congenital heart disease.

Restricted growth

Your child’s size and growth rate will be regularly assessed throughout their childhood. If your child’s growth rate is thought to be seriously reduced, a course of human growth hormone (HGH) may be suggested.

A course of HGH usually starts at around five years of age and continues until adult height is reached. A type of HGH called somatropin is used to treat children with Noonan syndrome. Somatropin is given by a daily injection using an auto-injector syringe.

Most children are able to tolerate somatropin well and side effects are uncommon, with the exception of some temporary soreness, itchiness and redness at the site of the injection.

Read more about restricted growth (short stature).

Feeding and speech problems

In children with Noonan syndrome, weak muscles in the mouth can sometimes cause speech and feeding problems. If your child has speech or feeding problems, they may be referred to a speech therapist for help and support.

The speech therapist will help your child develop the muscles in their mouth and show them how to use their muscles more effectively.

In particularly severe cases of poor feeding, your baby may need a feeding tube for a few months.

Undescended testicles

If you have a baby boy with an undescended testicle or testicles, corrective surgery is usually recommended before he reaches two years of age.

A surgical procedure known as an orchidopexy is the usual treatment for undescended testicles. It involves making a small cut in your child’s tummy and moving the testicle(s) into the correct position.

Read more about treating undescended testicles.

Learning difficulties

If your child is diagnosed with learning difficulties, it does not necessarily mean they cannot be taught in a mainstream school. However, children with more severe disabilities may benefit from attending a specialist school.

To ensure your child gets the support they need, it is recommended that a statement of special educational needs (SEN) is drawn up. An SEN is a type of care plan produced by both the child’s parents and their school, and is designed to meet the child’s educational requirements.

Other health conditions

Information about treatment for other conditions associated with Noonan syndrome can be found in the list below: