Vascular Ehlers-Danlos syndrome: imaging findings

Vascular Ehlers-Danlos syndrome (EDS), formerly known as EDS type IV, is an autosomal dominant disorder characterized by fragility of medium and large arteries due to type III procollagen deficiency. Our purpose was to review the imaging findings in a cohort of patients with a diagnosis of vascular EDS.

The radiologic, surgical, and genetic databases at a single multispecialty medical practice were reviewed for a 35-year period between 1971 and 2006. Thirty-three patients with a clinical diagnosis of vascular EDS were identified. Imaging studies were available for 28 patients, 13 men and 15 women, with a mean age of 39.8 +/- 16 years at the time of diagnosis. A vascular radiologist reviewed a total of 189 imaging examinations: 87 CT, 27 MRI, 59 sonography, and 16 angiography.

Vascular abnormalities were present in 22 (78%) of 28 patients. Arterial abnormalities included 41 aneurysms, 19 dissections, 12 ectasias, and 10 occlusions. There was one splenic vein aneurysm and one carotid cavernous fistula. Six patients had a total of 10 parenchymal infarcts involving the brain (n = 5), kidney (n = 3), and spleen (n = 2). Nine patients had 10 hemorrhagic events, five related to spontaneous vascular rupture and five associated with interventional or surgical procedures. Six patients had 13 nonvascular findings.

The most common findings were arterial aneurysms and dissections, followed by arterial ectasias and occlusions. Life-threatening complications included hemorrhage and infarcts.