title: Undiagnosed DiGeorge syndrome presenting in middle age with an aortic root aneurysm and chronic dissection.
abstract: DiGeorge syndrome is the second commonest cause of congenital heart disease after trisomy 21. This case illustrates an undiagnosed case of DiGeorge syndrome for a patient who had a ventricular septal defect repair in childhood. He survived well into his adult years, and was only diagnosed post mortem after an unsuccessful repair of an aortic root aneurysm. The case serves as an example supporting genetic screening of children with congenital heart disease, and lifelong cardiology follow-up for patients with a confirmed genotype.
authors.affiliation: Adult Intensive Care Unit, Royal Brompton Hospital, London, UK.
authors.forename: Christopher
authors.initials: C
authors.lastname: King
mesh_terms: D000784:Aortic Dissection / Q000175:diagnosis* / Q000601:surgery*; D001014:Aortic Aneurysm / Q000175:diagnosis* / Q000601:surgery*; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed