title: Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy.
abstract: We present a case of Fabry disease with an uncommon pattern of asymmetrical hypertrophy with septal prominence resulting in an erroneous diagnosis of hypertrophic cardilmyopathy clinically. The deceased presented for a medicolegal autopsy following his sudden death after an AV node ablation. Fabry disease continues to be an important misdiagnosis of hypertrophic cardiomyopathy in a clinical setting. Early diagnosis of Fabry disease is essential so that early treatment can be instituted.
authors.affiliation: Victorian Institute of Forensic Medicine, Melbourne, Australia.
authors.forename: Odette A
authors.initials: OA
authors.lastname: Rodda
authors.affiliation: Victorian Institute of Forensic Medicine, Melbourne, Australia; Department of Forensic Medicine, Monash University, Melbourne, Australia.
authors.forename: Matthew
authors.initials: M
authors.lastname: Lynch
authors.affiliation: Victorian Institute of Forensic Medicine, Melbourne, Australia; Department of Forensic Medicine, Monash University, Melbourne, Australia. Electronic address: sarah.parsons@vifm.org.
authors.forename: Sarah
authors.initials: S
authors.lastname: Parsons
mesh_terms: D000368:Aged; D001283:Atrioventricular Node / Q000601:surgery*; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology*; D017115:Catheter Ablation / Q000009:adverse effects*; D003645:Death, Sudden / Q000209:etiology*; D003951:Diagnostic Errors; D000795:Fabry Disease / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010138:Pacemaker, Artificial
keywords: AV node ablation; Fabry disease; Hypertrophic cardiomyopathy; Sudden death