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Many people with Marfan syndrome experience pulmonary complications, or problems with their lungs. If you suspect that you have lung problems, you should see a pulmonologist (lung doctor). The risk for lung problems with Marfan syndrome and some related disorders is so high that everyone with these disorders should avoid or quit all forms of smoking.

These are some of the most common problems involving the lungs in people with Marfan syndrome.

Spontaneous Pneumothorax

Pneumothorax, which is also known as collapsed lung, involves lung collapse or lung detachment from the chest wall. It can happen spontaneously, meaning there is a lung collapse without any cause. When a lung collapse occurs, air escapes from the lungs and fills up the space outside of the lung, inside the chest. In the Marfan lung, pneumothorax can be recurrent, present in both lungs, and associated with emphysema. A person with pneumothorax may experience shortness of breath, dry cough, an acute onset of pleuritic chest pain (chest pain that gets worse when you take a deep breath), or chest pain that gets worse when coughing.

Restrictive Lung Disease

About 70% of people with Marfan syndrome also have restrictive lung disease. Restrictive lung disease does not allow the chest to expand fully. When the lung cannot expand fully, there is a decreased ability to expand the lung (breathe in), which makes it difficult for the body to take in the amount of oxygen that the body needs. In people with Marfan syndrome, restrictive lung disease can be a result of muscle weakness or a result of structural issues such as scoliosis, kyphosis, or severely indented chest bone. Restrictive lung disease makes breathing more difficult, and may cause coughing, wheezing, chest pain, or shortness of breath during mild activity.


Emphysema is a type of chronic obstructive pulmonary disease (COPD) that involves destruction of the lungs over time, loss of alveolar walls, enlargement of the air spaces, obstruction and inflammation of the lungs, and damage to the air sacs (alveoli) in the lungs that make it hard for the body to get the oxygen it needs. Five to 10 percent of people with Marfan syndrome also have emphysema.


Asthma is a chronic (long-term) lung disease that inflames and narrows the body’s airways. A correct diagnosis of asthma is important for a person with Marfan syndrome because many of the drugs that are used to treat asthma (beta-agonists) can counteract the effects of the drugs such as beta-blockers, which are used to control and slow aortic growth in people with Marfan syndrome. If asthma is suspected, it is important to see a respiratory specialist who can coordinate treatment with other care specialists.

Sleep Apnea

Some people with Marfan syndrome have sleep disordered breathing (sleep apnea), which can have a number of causes. One seems to be looseness (laxity) of the connective tissue of the airways, which then further relax during sleep and partially obstruct airflow.  Often people with sleep apnea are overweight, but thin people with Marfan syndrome are also at risk.

Any person who snores excessively, sleeps fitfully, seems to have pauses in breathing or gasps for air while sleeping, has a headache on awakening in the morning, or regularly falls asleep during the day should be evaluated by doctor.

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Lungs in Marfan syndrome