How is marfan syndrome diagnosed

If you have Marfan syndrome and want to know if your unborn baby also has the condition, you can have prenatal testing at about 10 to 12 weeks using chorionic villus sampling. This test involves taking and examining a small sample of placenta from the womb. Amniocentesis at about 16 to 18 weeks can also test for Marfan syndrome. This involves taking and examining a small sample of amniotic fluid the fluid that surrounds the fetus in the womb. Marfan syndrome doesn't have a cure. But treatments can help delay or prevent complications, especially when they're started early.

This is why early diagnosis is so important. Marfan syndrome can affect many parts of your child's body, including the heart, bones and joints, and eyes.

The type of treatment your child receives depends on their symptoms and related conditions. PGD is only an option after a person with Marfan syndrome has been identified as having a Marfan gene mutation and wants to become a parent. Page last reviewed: 22 January Next review due: 22 January Physical examination 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.

Medical history As well as carrying out a physical examination, your GP will have a detailed look at your: medical history — to find out whether you have had any symptoms or illnesses in the past that may be a sign of Marfan syndrome family history — if you have a close family member with Marfan syndrome, your chances of also having the syndrome are increased Children Marfan syndrome can be particularly difficult to diagnose in children, and it's rare for it to be diagnosed in a young child.

Ghent criteria Your GP may compare the signs and symptoms against the Ghent criteria. The Ghent criteria consists of major and minor criteria. Some of the major and minor criteria used to help diagnose Marfan syndrome are listed below. Major criteria Major criteria can include: an enlarged aorta a tear in the aorta dislocation of the lens of the eye a family history of the syndrome at least 4 skeletal problems, such as flat feet or a curved spine scoliosis enlargement of the lining that surrounds part of the spinal cord dural ectasia Minor criteria Minor criteria can include: short-sightedness myopia unexplained stretch marks loose joints a long, thin face a high, arched palate roof of the mouth Further testing Your GP may arrange for you to have some additional tests at a hospital or clinic.

This will help detect any potentially serious symptoms, such as an enlarged aorta. Some of the tests you may have include: an eye examination — this is carried out by a doctor who specialises in eye conditions ophthalmologist to check for dislocation of the lens an echocardiogram — where sound waves are used to produce an image of your heart, allowing doctors to check for heart problems and any problems with your aorta a chest X-ray — an imaging technique that uses high-energy radiation to highlight abnormalities in bones and certain organs of the body, such as the heart and lungs an MRI scan — uses a strong magnetic field and radio waves to produce a detailed image of the inside of your body; it can be used to examine your aorta and other blood vessels, and detect dural ectasia Genetic testing Although the gene that causes Marfan syndrome has been identified, it can change mutate in more than 3, different ways.

A genetic test can be used to examine the gene responsible for Marfan syndrome. But the test is expensive and takes 3 months to complete. Fibrillin is a component of microfibrils, a group of proteins that add strength and elasticity to connective tissue. A genetic mutation is found in 90 percent to 95 percent of people with Marfan syndrome. The advances in medical and surgical management of children and adults with Marfan syndrome have resulted in high- quality, productive and long lives.

A cardiologist will monitor the aorta and heart valves, an ophthalmologist will monitor the lens and retina of the eyes and an orthopaedist will monitor the spine, legs and feet. Physical therapy, bracing and surgery are management options. The choice of these must be individualized. Every affected person should work closely with his or her physician s on their customized treatment plan.

However, in general, treatment includes the following:. Antibiotics and other medications may be necessary prior to any dental or genitourinary procedures to reduce the risk of infection in people who experience mitral valve prolapse or who have artificial heart valves.

Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, to reduce the risk of injury to the aorta. For more information about Marfan syndrome, please visit The Marfan Foundation. Download the Form. Step 3 Reach out for information and support.

We offer many ways for you to receive information and support, both online and in person. And our events, such as our Annual Conference and Walks for Victory, provide an opportunity to connect with the greater Marfan and related conditions community.

We are here for you. You are not alone. Genetic testing can provide helpful information in some cases. What if you have some features of Marfan syndrome, but the doctor says you don't have Marfan syndrome?

It is possible for you to have one or more features of Marfan syndrome, but not enough for you to have a Marfan syndrome diagnosis. You may need additional exams by other doctors and additional genetic testing to see if you have a condition that is related to Marfan syndrome.

Read about the conditions related to Marfan syndrome and how each is diagnosed. What should you do if you think you might have Marfan syndrome or a related condition?