Presentation
Right-sided pleuritic chest pain. Typical Marfanoid skeletal phenotype on clinical examination but not previously diagnosed. Aortic regurgitant murmur. Aortic dissection?
Patient Data
CT scout: Dilated ascending aorta lateral to the right main bronchus with left ventricular enlargement and subtle right apical pneumothorax.
Marked dilatation of the ascending aorta but no dissection.
Remainder of the aorta is normal apart from minor dilatation in proximal descending aorta.
Small right apical pneumothorax.
Case Discussion
Typical skeletal phenotypic features of Marfan syndrome presenting as a right-sided pneumothorax but with marked cardiovascular manifestations including aortic root dilatation and aortic regurgitation with resultant left ventricular enlargement.
This case demonstrates many of the characteristic manifestations of Marfan syndrome.