CTICasesVascular Ehlers-Danlos Syndrome with Aortic Aneurysm and Panlobular Emphysema
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[...]. Vascular Ehlers-Danlos Syndrome with Aortic Aneurysm and Panlobular Emphysema. CTICases. Published October 30, 2015. https://str-case-explorer.pages.dev/c/vg9c8
Imaging findings
Chest radiograph and CT show severe, diffuse lung destruction consistent with panlobular emphysema in a non-smoker, associated with an ascending aortic aneurysm and a history of prior aortic valve and aortic root replacement.
Key takeaways
Vascular Ehlers-Danlos syndrome (Type IV) is a rare autosomal dominant connective tissue disorder caused by mutations in the COL3A1 gene. In addition to a high risk of life-threatening arterial dissection and rupture, it is an under-recognized cause of early-onset panlobular emphysema and cystic lung disease in young non-smokers, serving as a unifying diagnosis for concurrent vascular and parenchymal abnormalities.
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