Marfan Syndrome - Signs, Symptoms, and Complications - Signs, Symptoms, and Complications
Signs and symptoms of Marfan syndrome depend on which parts of the body are affected and the severity of the condition. Some people have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications.
Signs and symptoms
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Marfan Syndrome - Signs, Symptoms, and Complications
Signs and symptoms of Marfan syndrome may include:
- A chest that sinks in or sticks out
- A long head with deep-set eyes
- A tall, thin build
- Eye problems, including blurred vision or trouble seeing things that are far away. This can be caused by the lens in one or both eyes moving out of place, which is often the first sign of Marfan syndrome.
- Flat feet
- Flexible joints
- Heart palpitations or a heart murmur
- Long arms, legs, fingers, and toes
- Pain, particularly in the lower back
- Scoliosis, a condition marked by a curving of the spine to one side
- Stretch marks on the skin that were not caused by weight gain or loss. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.
- Teeth that are too crowded or that are weak and more likely to break or have cavities
Complications
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Marfan Syndrome - Signs, Symptoms, and Complications
Marfan syndrome most commonly affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and spinal cord. However, the condition can affect many parts of the body.
The most serious complications are in the heart and aorta and may include:
- Aortic aneurysm. Marfan syndrome can cause the aorta to weaken and widen. Often this happens at the place where the aorta connects with the heart. Aortic aneurysms are at risk of dissection , which is when the inner layer of the aortic wall tears. It causes blood to collect between the inner and middle layers of the aortic wall. This may lead to a rupture of the aorta or not enough blood flow to your organs. Sometimes the aneurysm occurs in the pulmonary artery in addition to or instead of the aorta.
- Heart valve diseases. Marfan syndrome can cause problems with the aortic valve and the mitral valve. Aortic aneurysm may cause the aortic valve to not work properly, so that blood flows backward into the heart, called aortic regurgitation. Also, the mitral valve, which separates the left ventricle and atrium, can become “floppy” and not form a tight seal. This can cause blood to flow backward into the left atrium, called mitral regurgitation. Heart valve problems cause your heart to work harder, which may lead to heart failure.
- Arrhythmia. Heart valve diseases or other heart problems caused by Marfan syndrome can lead to an irregular heartbeat.
Other complications may include:
- Dental problems, such as gum problems or a jawbone that becomes unhinged from the skull
- Dural ectasia, in which the connective tissue that wraps around and protects your spinal cord and brain stretches and weakens. This can happen as people who have Marfan syndrome grow older and can lead to lower back or abdominal pain, headache, and numbness in the legs.
- Eye problems, such as a retina detaching, which can affect your eyesight. Other eye problems include being able to see objects clearly only if they are close to you, cloudiness in the eye called cataracts, and high pressure in the eye called glaucoma.
- Lung problems, such as pneumothorax, that can cause the lung to collapse. People who have Marfan syndrome may also have problems breathing if a curved spine or sunken chest prevents the lungs from expanding fully. Occasionally, lung conditions such as bronchiectasis or interstitial lung disease can develop.
- Sleep apnea, due to the shape of the face, oral cavity, or teeth in some people who have Marfan syndrome