Marfan syndrome often missed

Over 18,000 people are affected by Marfan syndrome in the UK but only around half of those actually know they have the connective tissue disorder which can affect the heart, eyes and skeleton. It’s a big concern because we know that Marfan is an entirely treatable condition if it is diagnosed early but it can be potentially fatal if it is not recognised.

Many people with Marfan’s, which is an inherited disorder, do have recognisable signs such as dislocated lenses in their eyes, which are often picked up in early childhood during eye tests. Others have the classic long rangy bodies, elongated fingers and scoliosis of the spine, so alarm bells start ringing and they are diagnosed. We make a clinical diagnosis of Marfan’s if two out of three major bodily systems are affected. But some people with Marfan’s have no obvious symptoms at all despite the fact that the condition is slowly leading to heart disease.

We make a clinical diagnosis of Marfan’s if two out of three major bodily systems are affected. But some people with Marfan’s have no obvious symptoms at all despite the fact that the condition is slowly leading to heart disease.

Over time, the aorta, which is the major blood vessel which carries oxygenated blood away from the heart, can enlarge and thin. Eventually, it can rupture, causing major blood loss. This type of event is fatal in 80 per cent of cases.

But if we know that someone has Marfan’s from an early age, we can treat them with medication that slows down the progression of heart disease and aneurysms. Better diagnosis rates combined with effective treatments means that the average life expectancy for someone with Marfan’s has risen from around 40 several decades ago to over 70 now – which is close to normal.

In order to ensure that diagnosis is made early, we need to raise awareness about Marfan’s among the general population and GPs who are often the first people to see the signs and symptoms. Only around one in 3000 people has Marfan’s and symptoms can be very wide ranging so doctors may assume that the problems are caused by something else entirely. The key thing is to look at family history – Marfan’s runs in families – and also to use echocardiograms to check the heart is working normally. There is also now a gene test which is reliable in 97 per cent of cases.

Someone who has been diagnosed with Marfan’s should be able to lead a normal, healthy life, as long as they are monitored and given treatment including surgery when needed.

Someone who has been diagnosed with Marfan’s should be able to lead a normal, healthy life, as long as they are monitored and given treatment including surgery when needed.

We use beta blockers to help keep blood pressure down which causes less strain on the aorta and the heart valves. There are also ongoing clinical trials into another type of blood pressure medication known as Irbesartan which seems to be more specific for people with Marfan’s.

Regular echocardiograms can show how the aorta is changing and expanding over time. We know that someone is safe if their aorta is less than 4.2 cm or less in diameter, but surgery is required when the aorta expands to 4.5 cm or greater. Open heart surgery, which involves removing the bulging part of the aorta and replacing it with a tough Dacron graft, can extend a patient’s life by decades.

A patient with Marfan’s who plans a pregnancy has a 50:50 chance of passing on the genetic mutation which causes the syndrome to their offspring. However, some couples opt to have IVF and we offer pre-implantation genetic diagnosis to those who want to select an embryo without the faulty gene. During pregnancy, women with the condition need to be monitored carefully with an echocardiogram every three months, and it might be decided that their baby needs to be born by C-section to minimise stress on their heart. However, many women with Marfan’s can give birth vaginally and studies show that a woman who has an aorta of 4.2cm diameter or less can have a normal labour.

Marfan syndrome is egalitarian in that it affects women and men equally and does not discriminate on the basis of class, colour or creed. There is currently no cure and it is not likely that there will be a cure in the foreseeable future. However, many successful people, and even national leaders, have lived full lives with Marfan’s and it does not have to be a disabling condition.

Dr Anne Child is a reader in cardiovascular genetics at the Cellular and Clinical Sciences Research Institute at St George’s University of London. She is taking part in the upcoming Medicine and Me: Living with Marfan syndrome meeting at the Royal Society of Medicine in London (Friday 29th September, registration at 12.30pm) which draws together patients, family members, carers, clinicians and researchers to discuss the impact of diagnosis, investigation and management of Marfan syndrome. The meeting is held in collaboration with the charities, the Marfan Association UK and the Marfan Trust.

Dr Anne Child

Dr Anne Child is a reader in cardiovascular genetics at the Cellular and Clinical Sciences Research Institute at St George's University of London.
Dr Anne Child

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