title: 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.
authors.affiliation: Rhode Island Hospital, Providence, RI, USA. tearl@lifespan.org
authors.forename: Thomas Joseph
authors.initials: TJ
authors.lastname: Earl
authors.forename: Lamia
authors.initials: L
authors.lastname: Khan
authors.forename: Denisa
authors.initials: D
authors.lastname: Hagau
authors.forename: Antonio B
authors.initials: AB
authors.lastname: Fernandez
mesh_terms: D000328:Adult; D001018:Aortic Diseases / Q000150:complications*; D001021:Aortic Valve / Q000002:abnormalities*; D001022:Aortic Valve Insufficiency / Q000150:complications*; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications*