The spectrum of aortic pathology in alport syndrome: a case report and review of the literature

Abstract

Alport syndrome is an inherited disorder of type IV collagen most commonly leading to glomerulonephritis and kidney failure. Various extrarenal manifestations have been reported, including a spectrum of aortic and aortic valve diseases. We report a case of a 34-year-old man with Alport syndrome presenting with chest pain. Work-up showed a dilated aortic root, bicuspid aortic valve, aortic insufficiency, and small ascending aortic dissection necessitating surgical repair. We provide a review of the literature describing aortic pathology in Alport syndrome and suggest that clinicians caring for patients with Alport syndrome have a high index of suspicion for such entities in patients presenting with symptoms of chest pain.