Marfan syndrome is a genetic condition that affects connective tissues. It can impact different parts of the human body, including the heart, blood vessels, lungs, skin, bones, joints, and eyes.
Connective tissues are complex structures that help to provide support to other tissue and organs.
The effects of Marfan syndrome range from mild to life-threatening. The most serious complications include damage to the heart valves, aorta, or both. It has no impact on cognitive ability.
It is mainly an inherited condition, affecting 1 in every 5,000 people.
There is no cure, but therapy can improve quality of life for a person with the condition and prevent potentially dangerous complications. Timely treatment can mean that a person with Marfan syndrome has the same life expectancy as an individual who does not have the condition.
As Marfan syndrome can affect various parts of the body, the symptoms can vary greatly between people.
However, people with Marfan syndrome commonly have a unique physical build.
They will often experience tears and widening in the aorta, or the large blood vessel leading from the heart.
Different people with Marfan syndrome will demonstrate different symptoms.
Symptoms may show in the skeleton, eyes, and cardiovascular system. In some people, symptoms are mild and limited to certain body parts. In others, they are severe and affect several body parts. Symptoms of Marfan syndrome tend to worsen with age.
Signs and symptoms that may appear in the skeletal system include:
- long limbs with thin and weak wrists
- stooped shoulders
- very long and slender fingers and toes, or both
- the sternum, or breastbone, protrudes or caves in
- extremely flexible joints
- long and narrow face
- small bottom jaw that may cause speech disorders
- overcrowded teeth
- slim body and taller than average height
- flat feet
- high palate that may cause speech disorders
- stretch marks on the skin not due to pregnancy or weight gain
- pain in the joints, bones, and muscles
The long limbs unique to Marfan syndrome often mean that the arm span of the individual is longer than their height.
There is a higher risk of developing scoliosis, or curvature of the spine, spondylolisthesis, and dural ectasia. Dural ectasia is the widening or ballooning of the dural sac that surrounds the spinal cord.
Problems related to the eyes include:
The aortic irregularities in Marfan syndrome can lead to the following cardiac issues:
- shortness of breath
- palpitations or heart murmur
- angina, with pain in the chest spreading to the back, shoulder or arm
- prolapse of the heart valves, including the aorta
- dilated aorta
- aortic aneurysm
Symptoms of Marfan syndrome may not appear until later in life.
Marfan syndrome is a genetic condition. It is either passed down through families or happens due to a randomly occurring faulty gene in a sperm or egg.
Most people with this syndrome inherit it from a parent. A parent with the condition has a 50 percent chance of passing it on to their child, but 25 percent of patients have no parent with the condition. This is known as spontaneous mutation.
The gene that carries Marfan syndrome is called FBN1. FBN1 provides a protein called Fibrillin-1 that provides connective tissue with elasticity and strength.
Without these qualities in the connective tissue, it is difficult for the body to move and flex. The connective tissue becomes less able to support the organs and various body parts.
The defective gene in Marfan stops production of Fibrillin-1 and results in raised levels of a protein called cytokine that may then lead to inflammation and scarring.
Diagnosing Marfan syndrome can be challenging, given the range of symptoms.
The physician will:
- ask about the patient’s family and medical history
- listen to the patient’s heart
- check the skin for stretch marks
- look at the length and features of the patient’s arms, legs, fingers, and toes
Other conditions with overlapping symptoms, such as Ehlers-Danlos syndrome or Beals syndrome need to be ruled out.
The doctor may not diagnose a child until they become a teenager. Signs and symptoms will then be clearer.
A physician may use the following tests to confirm the diagnosis:
- echocardiogram to check the state of the heart, valves, and the aorta
- electrocardiogram (ECG) to check heart rate and rhythm
- slit lamp eye exam, to check for dislocated lenses
- CT or MRI scans can be used to check the lower back for signs of dural ectasia.
- genetic testing may sometimes be recommended
There is no cure for Marfan syndrome. However, treatment can relieve symptoms and minimize or prevent possible complications.
The doctor will develop a personalized treatment program. The details will depend on the affected body parts and systems.
Regular monitoring can help to prevent bone, joint, and tissue problems by recognizing any changes in the spine or sternum at an early stage. This can be especially helpful if the person with Marfan syndrome is a child and still growing.
Delayed treatment can undermine heart and lung function. An orthopedic brace, or even surgery, may be needed.
Regular eye checks can ensure that any vision problems are detected and treated immediately. According to the National Marfan Foundation, most eyesight problems can be corrected with spectacles and lenses. Some patients may need corrective surgery.
The blood vessels and the heart will need regular monitoring. Early detection and treatment of heart and aorta problems can prevent complications.
Beta-blockers may be prescribed for heart valve problems and to lower pressure within the aorta. Sometimes surgery is needed to repair the aorta or replace a heart valve. Prompt surgical intervention is an important preventive measure against possible aortic dissection, a serious tear or rupture of the aortic wall.
The Marfan Foundation advises patients with heart problems to wear a medical alert bracelet and to go straight to hospital if they feel any chest, back, or abdominal pain.
The dural ectasia than can occur with Marfan syndrome can affect the central nervous system (CNS). In these cases, the patient may need medication to treat the pain.
People with Marfan syndrome are advised not to participate in high-intensity contact sports. Sports that do not require physical collisions or intense exertion are permitted, such as bowling or golf.
It is important to ask a physician what sports are suitable and safe.
Josephine Grima, PhD, Chief Science Officer of the Marfan Foundation, advises:
“There has been great progress in the advancement of basic understanding and treatment of Marfan syndrome. As a result, people with Marfan and related disorders can live a normal lifespan if they are diagnosed and getting appropriate medical treatment.”
For help, support, and information about research, visit the Marfan Foundation website.