Pneumothorax, otherwise known as a collapsed lung, can happen when air trapped between your lung and the chest wall pushes onto your lung, forcing it to collapse. The condition can also come about after a blunt or penetrating chest injury or from damage caused by lung disease.

Individuals with Marfan syndrome are at increased risk of pneumothorax because the connective tissue in and around the lung is abnormal. Only a minority of individuals with Marfan syndrome suffer a pneumothorax. Symptoms of a pneumothorax are sudden chest pain and shortness of breath, and early medical attention is important for rapid diagnosis and management.

In terms of treatment, you may need to take regular medication to reduce your blood pressure and reduce strain on your aorta. You will also need to have regular check-ups (every year or so) to keep an eye on everything. You may be recommended surgery at some point, but this will be a discussion with your specialist. 

At a day-to-day level, you will need to avoid intense physical activity, like contact sports. But, you can still enjoy and benefit from many forms of regular exercise. Similarly, many aspects of your day-to-day life will remain unchanged after your diagnosis of Marfan syndrome. 

If you are considering starting or expanding your family, you may want to discuss with your specialist how to manage your condition if you become pregnant and/or how to best avoid passing the condition on to your child.

Diagnosing Marfan syndrome can be complex. However, documenting related symptoms, conditions and familial history can assist in fast tracking a diagnosis. This can include relatives who have passed away due to sudden cardiac death or otherwise unexplained circumstances. Their deaths may have been recorded as sudden adult death syndrome, because of symptoms like sudden cardiac arrest, suggesting there may have been issues with their heart. 

You can then discuss your concerns with your general practitioner or cardiologist. If in their professional opinion there is a possibility you have the disorder, they will recommend tests, including tests to check your heart. Based on these results, they may then recommend you get genetic testing to confirm a diagnosis of Marfan syndrome or other Marfan-like conditions such as Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome.