Marfan syndrome: Do you know the symptoms to look out for in your child?

Marfan syndrome is a genetic condition characterised by a number of physical characteristics such as long fingers as well as a very slim and tall build. The condition can be detected in childhood and seeking medical advice is vital as the condition can have serious implications for the development of the heart. With treatment from specialists however, it is possible to live a long and healthy life with a diagnosis of Marfan syndrome. In this article, renowned consultant paediatric cardiologist Dr Nitha Naqvi gives an in-depth guide to the condition.

What is Marfan syndrome?

Marfan syndrome is a genetic condition. People with Marfan syndrome have a mutation in the fibrillin-1 gene which results in an excess of transforming growth factor beta, a special protein found in connective tissues.

Marfan syndrome affects one in three thousand people and around three quarters of cases run in families. However, one quarter of those who have the condition have no family history of Marfan syndrome.

What are the signs and symptoms of Marfan syndrome?

Marfan syndrome affects all parts of the body. Often suspicions arise that somebody may have Marfan syndrome because the child or adult in question is particularly tall. Parents may notice that their children are outgrowing the normal sizes of baby and children’s clothes and they are often the tallest in their class. Other signs of the syndrome are:

• very slim build
• long fingers
• bigger feet than other children of their age
• stretchy skin
• a dip in the chest wall (pectus excavatum)
• a greater number of stretchmarks during adolescence than is typical

Additionally, there are some signs of Marfan syndrome that are specific to the eyes and an optician or an ophthalmologist may be the first person to suspect that there is a problem. People with Marfan syndrome also often have flat feet and sometimes the orthoptist or person looking after the patient’s feet notices that the condition may be present.

If you are concerned at all that a child or somebody you know may have Marfan syndrome, it’s very important to ensure that you see an expert because there can be very important complications relating to the heart which need to be treated to keep your child safe.

How is Marfan syndrome diagnosed?

Marfan syndrome is diagnosed by geneticists, paediatricians and paediatric cardiologists. The definitive diagnosis is done with a blood test where the genes are examined to see if the person has the specific gene mutation associated with the condition.

Also, it can often be diagnosed by a doctor who sees that a child has many of the features compatible with Marfan syndrome, such as issues with the eyes and some physical characteristics. For example, people with Marfan syndrome often have very long fingers and usually when they put their hands around their wrists, their fingers are so long that they overlap.

However, there are also people who don’t have Marfan syndrome who are also able to do that, so that’s not a sign on its own. Nonetheless, a combination of the characteristics associated with the condition can give a strong indication that it is present.

There are formal criteria, called the Ghent system, that geneticists use to diagnose the condition but the gold standard is to do a blood test to examine the genes. This is available all around the world.

How does Marfan syndrome affect the heart?

The most important complications of Marfan syndrome are associated with the heart. The key feature that I and fellow paediatric cardiologists look for in patients with the condition is the size of the aorta.

The aorta is the large blood vessel that takes the red oxygenated blood from the heart around the body. Unfortunately, in patients with Marfan syndrome the aorta can stretch and become bigger than it usually would be which can be dangerous.

For this reason, people suspected of having Marfan syndrome are always sent for an echocardiogram and perhaps also for another form of cardiac imaging to measure the size of their aorta. As well as an enlarged aorta, the condition can cause the valves of the heart to leak, particularly the mitral valve which can also prolapse.

How are Marfan syndrome and the associated symptoms treated?

People with Marfan syndrome usually require expert treatment for other issues related to the condition such as orthopaedic joint or bone problems and scoliosis, curvature of the spine. Additionally, patients must have regular eye check-ups because they can get serious eye complications.

Essentially, each system of the body can be affected and therefore requires a different doctor’s attention. It is therefore typical for children diagnosed with Marfan syndrome to regularly see a range of specialists to monitor their symptoms. These specialists would likely include:

• a paediatric cardiologist to monitor the heart  
• an ophthalmologist to look after the eyes
• a geneticist to help with the diagnosis
• an orthopaedic surgeon regarding the issues with the spine and the chest wall
• allied health professionals regarding issues they may have with their feet
• a paediatric endocrinologist (a children’s doctor with expertise in hormones) to address the issues of the child becoming excessively tall

If your child has Marfan syndrome, it’s also important to let their school know because they may need extra help to reach their full potential. There’s a lot we can do now to help patients with Marfan syndrome and the outlook for patients is significantly better than it was decades ago.

What is the normal life expectancy for people with Marfan syndrome?

At the moment, reports state that life expectancy for patients with Marfan syndrome is around seventy years of age. However, this is a really exciting time for patients with the condition as we now have new drugs which we can use to give to even very young children who are affected to reduce or maybe even stop aortic root enlargement. This is the issue that tends to have the biggest effect on patients’ life expectancy.

These days, there are significantly more treatment options for patients, including surgical procedures. Over time, specialists have developed and refined procedures that are performed if the aorta becomes too big.

In addition, innovative operations have been developed and are now in use such as the PEARS procedure (Personalised External Aortic Root Support) where a 3D printed stent is made individually for the patient and placed around the aorta to stop over-enlargement.

Before resorting to surgery, we now also have medication options, which can be given in liquid form for young children, to try and slow down or prevent the rate of aortic root enlargement. In this way, treatment can start very early giving a very optimistic outlook for patients of Marfan syndrome. Patients may well require some treatment during their childhood and throughout their life but it is important to note that I would expect their overall quality of life to be very good. If you are worried your child may have Marfan syndrome, I would reassure you that your expectations for their future are still possible.

If you are concerned by your child’s or your own symptoms of Marfan syndrome, you can book a consultation with Dr Nitha Naqvi by visiting her Top Doctors profile.