Marfan syndrome - aortic root dilatation

Case contributed by Dr Chris O'Donnell

Presentation

Right sided pleuritic chest pain. Typical Marfanoid skeletal phenotype on clinical examination but not previously diagnosed. Aortic regurgitant murmur.

Patient Data

Age: 21
Gender: Male
CT

CT aortogram ? dissection

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 manifestation of Marfan syndrome. 

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Case information

rID: 16444
Case created: 19th Jan 2012
Last edited: 6th Mar 2016
Systems: Vascular, Chest
Inclusion in quiz mode: Included

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