Marfan Syndrome: Know the symptoms – save a life

Dr Anne Child f the Marfan Trust“By my calculations, there are 9,000 people in the UK who are unaware that they have Marfan Syndrome – if left undetected up to 1/3 of whom may not live beyond adulthood.”

Dr. Anne Child, Medical Director of The Marfan TrustThe official figures show that 1:5,000 people potentially have Marfan Syndrome, yet through the incredible work of The Marfan Trust, led by their Medical Director Dr. Anne Childs, it has become apparent that these statistics are inaccurate.Dr Anne Child St. Georges Hospital

The actual figure is believed to be 1:3,000 people, which means that in the UK alone, there are potentially 9,000 who are unaware that they have Marfan Syndrome.

Although Marfan Syndrome is hereditary, 25% of new cases do NOT have any immediate family connections – and it is these people who are most at risk.

This is the exact situation Lucy Morris was in and why it took so long to diagnose her. There will be other girls and boys (as well as adults) throughout the UK in exactly the same situation as Lucy – we have to do as much as we can to connect these individuals with The Marfan Trust.

The hidden dangers of Marfan Syndrome

Marfan Syndrome has several ‘visual’ symptoms (detailed below), which can be extremely helpful in helping to identify those who may be at risk.

However, the real dangers of Marfan Syndrome cannot be seen and are often undetected.

The main reason The Marfan Trust need to identify those at risk is because they may have an enlarged aorta, which is the main blood vessel that carries blood from the heart (aortic dilation).

If left untreated this can lead to fatal heart conditions.

People with Marfan Syndrome often state that they had no prior symptoms to help them identify that they had a heart condition. Lucy, who inspired the Driven at Heart Challenge, had felt ‘fluttering’ in her heart, but thought that was just normal.

This is why it is so important to know the following (more visual) symptoms…

Some of the most common and easily to spot symptoms are the following:

Bones and Joints (Skeletal system)

  • Long arms and legs
  • Tall and thin body type
  • Curvature of the spine (scoliosis or kyphosis)
  • Chest sinks in (pectus excavatum) or sticks out/pigeon breast (pectus carinatum)
  • Long, thin fingers
  • Flexible joints
  • Flat feet
  • Teeth that are too crowded

Eyes (Ocular system)

  • Severe nearsightedness (myopia)
  • Dislocated lens of the eye
  • Detached retina
  • Early glaucoma
  • Early cataracts
  • Other Body Systems

Stretch marks on the skin, not explained by pregnancy or weight gain
Do I have Marfan Syndrome if I have any of the above characteristics?

No – it simply means that you could be at risk.

The important thing to do is get tested for Marfan Syndrome – and you can do this by contacting The Marfan Trust. The Trust has informed us that they’d much prefer to test someone who even has the slightest concerns, rather than not know.

The Marfan Trust – Telephone: 020 8725 1189

As we mentioned at the beginning of this article – there are 9,000 people in the UK who are potentially at risk from life-threatening heart conditions. By launching the Driven at Heart campaign, we hope to spread awareness about Marfan Syndrome and try to reach some of these people.

Article from Driven at Heart


The Marfan Trust

What They do

marfan trustOur research work covers the whole of the United Kingdom and the Marfan Trust is the only charity in the UK that primarily supports research into Marfan syndrome.The main objective of the Trust is to support medical research so that more is known about Marfan syndrome and its severity. The results of our internationally recognised research enable doctors and surgeons to provide better treatment for patients in the short and long term.

Suggestions for research projects come from patients who voice concerns about ageing early, planning to have normal children, wishing for a cure, wanting early diagnosis.

Every clinic patient may be asked to volunteer for ongoing projects which directly benefit them. Research results are communicated directly to patient and physician in charge.

The Trust has funded setting up of the Sonalee laboratory in which Marfan gene mutations provide the basis for correct diagnosis. It is a nationally and internationally recognised referral centre of excellence for Marfan syndrome diagnosis and management, with 3,000 UK families on a research database.

Educational literature and pamphlets have been provided for medical and lay audiences worldwide by our Research Group.

All their Trustees are either affected or have a close family member who is affected. The Trustees prioritise the research projects and decide which ones to fund.

Info about and from the Marfan Trust

Researchers studying the genetics behind Marfan and Loeys-Dietz syndrome have discovered that there may be a common genetic driver behind almost all allergic diseases

Scientists Reveal Genetic Glitch at the Root of AllergiesAllergies are certainly the result of both genetic and environmental factors, but there is fresh evidence to suggest that at least one major genetic aberration could be behind everything from hay fever to food allergies to asthma.

Allergies — to dust, pet hair or peanuts — are essentially the product of misdirected immune systems, which start to see innocuous objects as potential threats and launch an intensive assault that can translate into sneezing, wheezing, and even potentially fatal seizures. For decades now, rates of allergies and other immune-related diseases such as asthma and eczema have been rising in the U.S., and the rapid increase suggests that it’s more than just genes, or just changes in lifestyle that made us too clean that are at work.

Now researchers studying the genetics behind the rare tissue disorders Marfan and Loeys-Dietz syndromes have discovered that there may be a common genetic driver behind almost all allergic diseases. Reporting in the journal Science Translational Medicine, scientists from Johns Hopkins Children’s Center and the Johns Hopkins Institute of Genetic Medicine say that they were surprised to find that the same mutation they found in the Marfan and Loeys-Dietz patients may also trigger the immune changes responsible for allergies; most of the patients with the two rare disorders also have higher than normal rates of allergies.

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Doctors couldn’t diagnose Beatrice with Marfan or any known disorder, so Hugh Rienhoff, who trained as a clinical geneticist, decided to try to identify the mysterious affliction that had struck his daughter. For nearly a decade, he’s been on a hunt to find the genetic mutation that is responsible for Beatrice’s illness, and now he’s published an academic paper that may trace the route to a mutation in the gene that makes Transforming Growth Factor Beta-3.

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`Spa for a Cause’ to help Castle Rock girl

Spa-for-a-Cause-to-help-Castle-Rock-girlShe’s only 10, but looks like she has soldiered through some war. She’s long-limbed and bony, and her eyes are red and tired after multiple surgeries for detached retinas.
“I play by myself at recess all the time,” said Maddy Collins about experiences at South Ridge Elementary School in Castle Ro

Some kids call her “alien” and she sits alone at lunch, because they worry if their trays touch hers, they’ll have to throw their food away.

That’s what Maddy, who was born with Marfan syndrome, faces from many classmates. And then there’s what she and her family face every day.
There is a long list of things she can’t do. So that she can live.

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Against all odds: A battle for life against Marfan Syndrome


May 21st started out like any other for Andrew Mattison. Before the day was over the 26-year-old timberjack would find himself in a battle for his life and an eight and one-half hour surgery with less than a five percent chance of survival.

That morning Mattison went to work at The Great Smoky Mountain Lumberjack Feud where he works as a performer. On this particular day he was meeting with three co-workers that were helping organize the Stihl U.S. Timbersports Competition. Mattison was seated at a desk in front of computer on a conference call with event organizers. In the office with him were co-workers and long-time friends Chuck Peters, Mike Downs and Matt Samler…

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