Marfan syndrome
- Article
- 2021-02-04
Some people with Marfan syndrome have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications. Symptoms of Marfan syndrome depend on which parts of the body are affected and the severity of the condition. People with Marfan syndrome can be tall and thin with long arms, legs, fingers and toes, as well as flexible joints. The most serious complications are problems in the heart and blood vessels, such as a weakening or bulging of the aorta.
Your doctor may recommend medications, surgery, or other treatments to treat or prevent complications. Limiting certain activities, or changing the way you do them, can help reduce or prevent complications in the heart, eyes, and joints.
Symptoms
Signs and symptoms of Marfan syndrome can include:
- A chest that collapses or protrudes
- A long head with deep-set eyes
- Tall, thin build
- Eye problems, including blurred vision or trouble seeing things that are far away. This can be caused by the lens moving out of place in one or both eyes, which is often the first sign of Marfan syndrome.
- Flat feet
- Flexible joints
- Palpitations or a heart murmur
- Long arms, legs, fingers and toes
- Pain, especially in the lower back
- Scoliosis, a condition characterized by curvature of the spine to one side
- Stretch marks on the skin that are not caused by weight gain or loss. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and stomach.
- Teeth that are too crowded or weak and are more likely to break or have cavities
Therapy
While there is no cure for Marfan syndrome, treatments can help slow or prevent complications, especially if started early. The type of treatment you receive will depend on the parts of your body that are affected and the severity of your condition. You may have a team of doctors and specialists to coordinate your care.
Your healthcare team
In addition to your primary care physician, your health care team may include:
- A cardiothoracic surgeon
- A genetic counselor
- Doctors specializing in the cardiovascular system (cardiologist), eyes (ophthalmologist), and skeleton (orthopedist)
- Nurses
Medicines
Your doctor may recommend blood pressure medication to relieve aortic tension or bulging. These drugs help your heart beat slower and with less force.
- Beta blockers or angiotensin receptor blockers (ARBs) are the most common. Side effects of these medicines may include tiredness, light-headedness, or nausea in your stomach.
- Calcium channel blockers or angiotensin converting enzyme (ACE) inhibitors may be prescribed if you have side effects from beta blockers or ARBs.
Surgery to repair the aorta or heart valves
If your aorta is larger than normal, your doctor may recommend surgery to repair or replace part of the aorta to keep it from tearing or tearing open. If you have an aortic dissection or rupture, you'll need emergency surgery to repair the aorta.
Your aortic valve can also be replaced with a mechanical or biological valve made from animal tissue. The valve can be replaced during the open surgery to repair the aneurysm.
If you have mitral valve insufficiency - where your blood flows back into your left atrium - your doctor may recommend surgery to repair or replace your mitral valve.
Other operations and procedures
Your doctor may also recommend surgery for one of the following reasons:
- To restore severe scoliosis. For less severe scoliosis, your doctor may recommend braces or other device to avoidn that the condition gets worse.
- To fix a box that collapses or sticks out. This surgery is performed to keep the chest from pressing on the lungs and heart.
- To recover a collapsed lung from pneumothorax
- To repair a dislocated lens or retina in your eye
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