Q. I had my son go to the hospital on 3 occasions with spontaneous pneumothorax. The doctors suspect my 6'5", 135 lb. son may have Marfan Syndrome. We had an ultrasound of his heart and had his eyes tested with a slit lamp. Both tests came out normal. My question is, can the complications with his heart and eyes show up later in his life? He is currently 17 years old.

A. A spontaneous pneumothorax refers to a collapsed lung in a healthy person. The lung collapses without any apparent cause such as trauma or underlying lung disease such as emphysema. These cases usually occur at rest or during light physical activity. Symptoms can be mild if only a small portion of the lung is affected, or severe if the whole lung is affected, and most commonly cause chest pain and shortness of breath.

The condition typically occurs in young adults, age 20-30, and is 5 times more common in males than females. Tall, thin physique and smoking are common associated factors. Estimates are that pneumothorax occurs one case per year for every 25,000 persons in the population.

The most common theory as to cause is that pneumothorax victims have a congenital weakspot somewhere in the chest cavity causing a defective seal between the lung and chest wall. When a pneumothorax occurs, treatment depends on severity. A small pneumothorax will often resolve spontaneously over 10-14 days and can be followed closely by a doctor.

A chest x-ray is needed to confirm the diagnosis and follow the healing process. If the pneumothorax is severe, a surgical procedure is needed to place a tube in the chest to evacuate the air between lung and chest wall. Unfortunately, after one such episode, the likelihood of a recurrence at some later time is fairly high, 20-50%. Treatment is usually more aggressive after the second such occurrence, often requiring surgery to remove the damaged tissue, and certain procedures to make the lung adhere strongly to the chest wall. If the patient is otherwise in good health, he usually recovers fully without restriction on physical activity.

Marfan's syndrome is a genetic disorder affecting connective tissue. Although there is no single test to confirm the diagnosis, it may be suspected in tall, slender, loose-jointed individuals. Diagnosis relies on the tests you mention: a slit-lamp exam of the eye to look for a displacement of the lens, and an echocardiogram to look for abnormalities of the heart valves and the aorta.

It is estimated that Marfan's occurs in 1 of 5,000 persons in the general population. Despite the normal tests at this time, your son should be examined on a regular basis as signs can develop with the aging process. Genetic testing may prove useful in the future as well.

http://www.marfan.org/index.html

http://www.niams.nih.gov/hi/topics/marfan/marfan.htm

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