Marfan Syndrome

Tall

Step 1: View clinicals

A 19 year old man presents with dyspnea for several hours, which was sudden in onset. There is no history of asthma, cardiac diseases or chest trauma. He was in general good health, and is not on any medications.


Step 2: Order all relevant investigations

Chest X-Ray

A moderate right-sided pneumothorax is present.

Echocardiogram

The ascending aorta is dilated, with a diameter of 4.5 cm. There is no aortic regurgitation, while the sinuses of Valsalva appear normal. Mild mitral valve prolapse is also seen.

CT Thorax

The CT scan confirms the presence of a right sided pneumothorax; a large bulla is seen in the right upper lobe. Ascending aorta is dilated. Other mediastinal structures are normal.

Slit lamp examination

There is superolateral lens dislocation.


Step 3: Select appropriate management

Intercostal tube
Bullectomy stat
Aortic resection
Endocarditis Prophylaxis


Score: ★★☆