CTICasesMarfan Syndrome
Imaging findings
CT chest in a 26-year-old tall, thin male shows multiple apical and subpleural lung cysts, one of which contains a traversing vessel. There is marked dilation of the aortic root measuring 3.8 cm, yielding a high z-score of 3.42.
Key takeaways
Marfan syndrome is a congenital connective tissue disorder caused by FBN1 mutations. It is associated with spontaneous pneumothoraces due to apical lung cysts/emphysema. Aortic root dilatation with a z-score of 2 or greater in the presence of family history is diagnostic.
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