Pediatric Marfan Syndrome

Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including the following:

• Assisting with growth and development of the body's cells, both before and after birth
• Supporting tissues in the body
• Acting as an adhesive to hold certain tissues together
• Protecting joints
• Facilitating the passage of light through the eye

A defective (FBN1) gene associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin, which impacts the integrity of many organs and structures in the body. Organs and body systems that can be impacted include, but are not limited to, the following:

• Heart and major blood vessels
• Lungs
• Skeletal system
• Spinal cord
• Eyes
• Skin

According to the March of Dimes, more than 200,000 people in the U.S. are affected by Marfan syndrome. Marfan syndrome occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups.

Marfan syndrome is caused by an abnormal gene. The affected gene is FBN1. It helps make a protein in connective tissue called fibrillin-1. The abnormal gene happens as follows:

• In about 3 out of 4 cases, the gene is inherited from a parent who is affected. Each child of an affected parent has a 1 in 2 chance of having the disorder (autosomal dominant inheritance).
• In about 1 out of 4 cases, the abnormal gene is from  a new mutation. It is not inherited from a parent. Researchers believe this happens more often when the father is older than 45. The child also has a 1 in 2 chance of passing on the gene.

Marfan syndrome occurs about equally in boys and girls. It also occurs in all races and ethnic groups.

A child is more likely to have Marfan syndrome if he or she has a parent with the disorder.

A child with Marfan syndrome can have many different signs and symptoms. The syndrome can affect the heart and blood vessels, bones and joints, and eyes. Symptoms can occur a bit differently in each child. They can include:

• Abnormal facial appearance
• Eye problems such as nearsightedness
• Crowding of teeth
• Tall, thin body
• Abnormally shaped chest
• Long arms, legs and fingers
• Laxity of joints
• Curved spine
• Flat feet
• Poor healing of wounds or scars on the skin 
• Dilation of the aortic root (the initial part of the aorta as it arises from the left ventricle)
• Mitral valve prolapse
• Pulmonary disease such as emphysema or spontaneous pneumothoraces

The symptoms of Marfan syndrome can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

The healthcare provider will ask about your child’s symptoms and health history. They will give your child a physical exam. The health care provider will ask about any family history of Marfan syndrome. To be diagnosed with Marfan syndrome, your child must have some specific health problems affecting the heart, blood vessels, bones, and eyes.

Your child may also have tests, such as:

• Electrocardiography (ECG). A test that records the electrical activity of the heart. It shows abnormal rhythms (arrhythmias).
• Echocardiography. An exam of the heart that uses sound waves. It creates moving pictures of the heart.
• Dilated eye exam. A complete eye exam that includes the inside of the eye.
• CT or MRI scans. Imaging tests that check for abnormal bones or joints.
• FBN1 gene testing. A blood test to check for the abnormal gene.

Treatment will depend on your child’s symptoms, age and general health. It will also depend on how severe the condition is.

There is no cure for Marfan syndrome. Treatment is based on which organs are affected. Your child will be closely watched for problems by getting regular checkups, echocardiography and complete eye exams.

Heart problems are treated by a pediatric cardiologist. This is a doctor with special training to treat heart problems in children. The treatment may include:

• Heart medicine. This includes beta-blockers. These medicines ease the work of the heart. As your child grows, they will probably need higher doses of the medicine.
• Surgery. This is to repair the aorta. It may be planned or it may be an emergency surgery. A child may also have surgery to repair heart valves. And some children may need a heart transplant.

Bone and joint problems are treated by a doctor with special training (orthopedist or orthopedic surgeon). Treatment may include braces, therapy or surgery.

Eye problems are treated by an eye specialist (ophthalmologist). Treatment may include medicine or surgery.

Children with Marfan syndrome are at risk for serious complications, especially of the heart and blood vessels. They include:

• Mitral valve prolapse. An abnormal valve between the left atrium and ventricle of the heart. This allows blood to flow backward from the ventricle to the atrium.
• Fast, slow, or irregular heartbeat (arrhythmia or dysrhythmia)
• Aortic regurgitation. An abnormal valve between the aorta and left ventricle. This allows the blood to flow backward. The left ventricle has to work harder, and there is less blood flow to the rest of the body.
• Aortic dilation and dissection. An enlarged and weakened aorta. The aorta tears, and there is bleeding in the chest or belly (abdomen). Some dissections are medical emergencies.
• Heart failure. The heart is not able to pump as well as it should.
• Heart muscle disease (cardiomyopathy)

Children may also have complications affecting other body systems, such as:

• Collapsed lung
• Abnormally shaped spine (scoliosis)
• Inability to move joints (contractures)
• Increased eye pressure (glaucoma)
• Clouding of the lens (cataract)
• Detached retina, the layer of the back of the eye
• Skin changes

Most children with Marfan syndrome can expect to live long lives.

• Talk with your child's healthcare providers about physical activities that are safe for your child.
• In general, children with Marfan syndrome should not take part in strenuous activities like weightlifting. They also should not take part in competitive sports that make the heart work harder.
• Children with some heart problems are more likely to get infections that affect the heart. These infections often start in the mouth. So good oral hygiene is important. Make sure your child takes good care of their teeth and gums every day. Your child should also have regular dental exams.
• A small number of children may need antibiotics before some dental and medical procedures. Talk with your child's healthcare providers about this.

Call your child's healthcare provider if you notice changes in your child. You will need to get medical help right away if your child has a worsening aortic dissection. Call 911 or your local emergency number if your child has:

Severe chest pain, pain between the shoulder blades, or in the upper belly (abdomen)

Signs or symptoms of shock, including:

• Anxiety or nervousness
• Blue color to lips and nails
• Confusion
• Dizziness
• Pale, cool or clammy skin
• Shallow breathing
• Loss of consciousness
• Pain or trouble moving the arms or legs