Ehlers-Danlos syndrome type IV and multiple aortic aneurysms - A case report

Beside atherosclerosis, aortic aneurysms can be part of the clinical spectr um of many systemic diseases, including infectious, inflammatory, genetic a nd, less often, congenital disorders. A 48-year-old white man presented wit h multiple large aneurysms of the aorta and its main branches. Medical hist ory was unremarkable except for the presence of a softened abdominal mass s ince he was 28 years old. On the physical examination, an arterial murmur w as heard over the left carotid artery and a palpable mass was noted in the whole right side of the abdomen. No skin or joint abnormalities were noted. Aortography, computed tomography, and magnetic resonance angiography showe d multiple large aneurysms of the descending thoracic and abdominal aorta. Aneurysms of the innominate, left subclavian, and carotid arteries were als o seen. This case resembles those previously reported, in which multiple ao rtic aneurysms were associated with abnormalities of the type III procollag en gene (COL3A1). Although the classic stigmas of the Ehlers-Danlos syndrom e type IV were lacking, this genetic disease may be the cause of the multip le aneurysms in this patient.