Pulmonary Abnormalities in Marfan’s Syndrome Related to Diving

What is Marfan’s Syndrome?

It seems inevitable that someone will want to scuba dive with every disease known to man and wonder if there is some reason not to. Marfan’s Syndrome is one of these conditions. It has clinical features that are uniformly fatal unless corrected surgically and include aortic aneurysmal formation and dissection due to an abnormal collagen (protein). The adventitial structure of aortas of MS patients has been noted to be composed of a certain amount of thin type III collagen fibers, and similar protein has been found in excised cysts on lungs of patients with recurrent spontaneous pneumothoraces.

How does this condition relate to diving?

Pulmonary abnormalities occur in approximately 10% of patients, the commonest being spontaneous pneumothorax and emphysema. The same abnormal protein causes cystic pulmonary abnormalities that make it extremely dangerous for a person with Marfan’s syndrome to dive. Significant pulmonary problems include restriction of lung function due to pectus excavatum (caved in chest), or kyphoscoliosis (hunchback) and intrinsic pulmonary involvement with emphysema, bronchogenic cysts and “honeycomb lung.” This leads to a significant incidence of spontaneous pneumothorax and the danger of tension pneumothorax when associated with positive pressure ventilation.

There are now many reports of cases of spontaneous pneumothorax in Marfan’s syndrome patients, some occurring even with the minimal pressure changes associated with aircraft pressurization and mountain climbing. Scuba diving with compressed air would be quite hazardous considering the relatively huge pressure changes that take place during the first and last 8 feet of a dive.

Findings on chest x-ray

Chest radiographs typically show bilateral bullae (blisters) in the upper lung zones and pulmonary function tests are consistent with mild emphysema. There were decreases in forced expiratory flow rates at low lung volumes, carbon monoxide transfer factor, and lung elastic recoil. It is felt that pneumothorax and bullous emphysema in this syndrome are caused by a weakness in the pulmonary connective tissue framework.

These pulmonary changes require excision of the bullae and blebs and obliteration procedures (abrasion) to prevent future lung collapse and fluid formation.

Possible nasal and Eustachian tube problems

Also possibly inimical to the diver is the congenital nasopharyngeal constriction of the maxillae with nasal airway restriction (NAR). NAR is a common feature of Marfan’s syndrome causing problems with sleep apnea. Eustachian tube function would be certainly endangered but has not been reported. Middle ear barotrauma, sinus squeeze and tympanic membrane rupture would be certain consequences.

AUTHOR

Ernest S. Campbell, M.D., FACS

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