title: Sudden unexpected death, epilepsy and familial cardiac pathology.
abstract: We evaluated the prevalence of epilepsy in a cohort of patients who suffered a sudden unexpected death (SUDEP), and determined the proportion of the deaths that were related to an identifiable underlying familial cardiac pathology. Epilepsy is common in people who experience a sudden unexpected death, with approximately a quarter having identifiable familial electrophysiological abnormalities. Familial cardiac pathology may be an important cause of SUDEP. A retrospective evaluation was performed of 74 families that were referred to the Royal Melbourne Hospital Cardiac Genetic Clinic over a 5 year period for investigation following a family member's sudden, presumed cardiac, death. This state-wide referral clinic includes all patients who have died from a sudden unexpected death in whom the cause of death is unascertained. An epilepsy diagnosis was categorised as either definite, probable, possible or unlikely. The family members underwent comprehensive clinical evaluations and investigations in an attempt to identify a familial cardiac cause for the sudden unexpected death. Our findings suggest that systematic referral to a cardiac genetics service is warranted for the first degree relatives of people with epilepsy who experience a sudden unexplained death, for further evaluation and to identify those who are at higher risk for sudden death. Interventions may then be instituted to potentially reduce this risk.
authors.affiliation: The Royal Melbourne Hospital, Grattan Street, Parkville, VIC 3050, Australia.
authors.forename: A J
authors.initials: AJ
authors.lastname: Eastaugh
authors.affiliation: The Royal Melbourne Hospital, Grattan Street, Parkville, VIC 3050, Australia.
authors.forename: T
authors.initials: T
authors.lastname: Thompson
authors.affiliation: The Royal Melbourne Hospital, Grattan Street, Parkville, VIC 3050, Australia.
authors.forename: J K
authors.initials: JK
authors.lastname: Vohra
authors.affiliation: The Royal Melbourne Hospital, Grattan Street, Parkville, VIC 3050, Australia; The University of Melbourne, Parkville, VIC, Australia.
authors.forename: T J
authors.initials: TJ
authors.lastname: O'Brien
authors.affiliation: The Royal Melbourne Hospital, Grattan Street, Parkville, VIC 3050, Australia; The University of Melbourne, Parkville, VIC, Australia. Electronic address: Ingrid.winship@mh.org.au.
authors.forename: I
authors.initials: I
authors.lastname: Winship
mesh_terms: D053447:Channelopathies / Q000150:complications* / Q000235:genetics; D003645:Death, Sudden / Q000453:epidemiology / Q000209:etiology*; D004827:Epilepsy / Q000150:complications*; D005260:Female; D006331:Heart Diseases / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012189:Retrospective Studies; D012306:Risk
keywords: Arrhythmia; Brugada syndrome; Channelopathy; Long QT syndrome; Sudden unexpected death in epilepsy