Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.
The association of the long QT-syndrome (LQTS) with single accidental drowning or near-drowning cases has been recently emphasised, but no data on the prevalence of LQTS among drowning victims are currently available. In this study, we have retrospectively screened specific founder mutations in KCNQ1 (KVLQT1) and KCNH2 (HERG) genes in 165 consecutive bodies found in water in Finland. We found a KCNH2-Fin mutation in a 44-year-old woman whose death was classified as suicidal drowning, whereas no other carriers of the two LQTS founder mutations were identified among the remaining 164 victims. This study provides the first estimate of the minimum prevalence of LQTS (0.61%, CI(95): 0.02-3.33) in such a setting and demonstrates the value of genetic analysis of LQTS in putative drownings. The detection of a LQTS founder mutation in a body found in water is a relatively rare event based on our study sample. This finding is, however, of utmost medico-legal importance, since it broadens the spectrum of potential causes and manners of death.
Lunetta
Philippe
P
Department of Forensic Medicine, PO Box 40, 00014 University of Helsinki, Finland.
Levo
Antti
A
Laitinen
Päivi J
PJ
Fodstad
Heidi
H
Kontula
Kimmo
K
Sajantila
Antti
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D004332:Drowning; D005260:Female; D005554:Forensic Medicine / Q000379:methods*; D006801:Humans; D007223:Infant; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies