CTICasesMarfan Syndrome with Cardiovascular Manifestations
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Imaging findings
Chest CT in a 59-year-old male demonstrates classic manifestations of Marfan syndrome, including marked dilatation of the aortic root, ectasia of the coronary arteries (prominently involving the left main, left circumflex, and right coronary origins), and selective dilation of the main and left pulmonary arteries associated with pulmonic regurgitation and valvular narrowing. A companion CT of a 3-day-old infant with Marfan syndrome shows early, severe dilation of the aortic and pulmonic roots.
Key takeaways
Marfan syndrome is a congenital connective tissue disorder caused by mutations in the fibrillin-1 gene, leading to weakness of elastic fibers. While aortic root aneurysm and dissection are the most common and life-threatening cardiovascular manifestations, clinicians should also recognize associated abnormalities such as pulmonary artery root dilatation (often aggravated by pulmonic regurgitation or stenosis) and coronary ectasia.
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