Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian report.
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.
Rutberg
Julie
J
University of Ottawa Heart Institute, Ottawa, Canada.
Green
Martin S
MS
Gow
Robert M
RM
Geraghty
Michael T
MT
Honeywell
Christina
C
Ewen
John
J
Birnie
David H
DH
Tang
Anthony
A
Lemery
Robert
R
Gollob
Michael H
MH
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
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human