title: Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian report.
abstract: Standard autopsy of young victims with sudden cardiac death commonly does not identify a specific pathological diagnosis. In such cases, sudden cardiac death may be secondary to a genetic condition predisposing the patient to ventricular arrhythmias. Failure to identify a genetic etiology for an unexpected sudden death may leave surviving family members at risk for a similar tragedy. The case of a 21-year-old woman who died suddenly while at rest is presented. Molecular genetic analysis of tissue retrieved from the regional coroner's office identified a novel missense mutation in the KCNH2 gene, a gene known to cause the long QT syndrome.
authors: University of Ottawa Heart Institute, Ottawa, Canada.
authors: Julie
authors: J
authors: Rutberg
authors: Martin S
authors: MS
authors: Green
authors: Robert M
authors: RM
authors: Gow
authors: Michael T
authors: MT
authors: Geraghty
authors: Christina
authors: C
authors: Honeywell
authors: John
authors: J
authors: Ewen
authors: David H
authors: DH
authors: Birnie
authors: Anthony
authors: A
authors: Tang
authors: Robert
authors: R
authors: Lemery
authors: Michael H
authors: MH
authors: Gollob
mesh_terms: D000328:Adult; D001344:Autopsy / Q000379:methods*; D002170:Canada; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics; D008967:Molecular Biology; D020125:Mutation, Missense / Q000235:genetics; D012307:Risk Factors
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human