Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.
In around three-quarters (75%) of cases, Marfan syndrome is inherited from one parent. The syndrome is autosomal dominant, which means a child can inherit it even if only one parent has the syndrome.
There's therefore a one in two (50%) chance that the child of a parent with Marfan syndrome will inherit the syndrome.
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.
Typical characteristics of Marfan syndrome include:
Faulty connective tissue can weaken the aorta
The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart.
The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and can result in a rupture, which may be fatal.
Marfan syndrome can be difficult to diagnose because the signs and symptoms can vary from person to person. In most cases, a diagnosis will be based on a thorough physical examination and a detailed assessment of a person's medical and family history. There are a number of criteria that your GP or geneticist – a gene specialist – will measure your symptoms against.
Your doctor will carry out a physical examination, which should include: listening to your heart checking your skin for stretch marks looking for any physical features of the syndrome, such as a high palate, curvature of the spine, and long, thin arms and legs As well as the varied signs and symptoms of Marfan syndrome, it can sometimes be difficult to distinguish the syndrome from other syndromes that affect the body's connective tissue, such as Ehlers-Danlos syndrome or Beals syndrome. The Marfan Foundation (USA) has more infomation about disorders related to Marfan syndrome.
Find out whether you've had any symptoms or illnesses in the past that may be a sign of Marfan syndrome. If you have a close family member with Marfan syndrome, your chances of also having the syndrome are increased.
Some additional tests will help detect any potentially serious symptoms, such as an enlarged aorta.
The tests may include:
Although the gene that causes Marfan syndrome has been identified, it can change (mutate) in more than 3,000 different ways. Genes are single units of genetic material. A genetic test can be used to examine the gene responsible for Marfan syndrome. It's able to detect an error that causes the syndrome in 99% of those affected. However, the test is expensive and takes three months to complete.
Get in touch through the patient help section to get genetic tests done at lower rates.