ABSTRACT
Drowning is one of the most frequent causes of accidental deaths worldwide, and still it remains a diagnosis of exclusion. Moreover, sudden cardiac deaths (SCD) or, if no actual cardiac alterations can be found, sudden unexplained deaths (SUD) represent a major group within mortality statistics as well. This leads to the assumption that there might be a general underlying cause for at least some cases of drowning, SCD, or SUD, for example, genetic aberrations in arrhythmia-associated genes. In the present study, blood samples of 171 corpses found in water (drowning, death after almost drowning, and unclear deaths) were analyzed in 19 known variants of the genes KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP by minisequencing. In three variants of NOS1AP, significant differences of allele and/or genotype frequencies could be demonstrated between victims of drowning and published controls as well as own controls. Moreover, similar differences were found comparing unexplained deaths in water and controls. Regarding the other genes, especially one single nucleotide polymorphism (SNP) of KCNQ1 could be associated with drowning. These results propose that performing a molecular autopsy analyzing known variants of arrhythmia-associated genes, in particular NOS1AP, may assist in establishing a cause of death for bodies found in water without clear drowning signs.
Subject(s)
Death, Sudden, Cardiac/etiology , Drowning/diagnosis , Polymorphism, Single Nucleotide , Adaptor Proteins, Signal Transducing/genetics , Adult , Case-Control Studies , Channelopathies/genetics , ERG1 Potassium Channel/genetics , Gene Frequency , Genotype , Humans , KCNQ1 Potassium Channel/genetics , Middle Aged , NAV1.5 Voltage-Gated Sodium Channel/genetics , Potassium Channels, Voltage-Gated/genetics , Young AdultABSTRACT
Drowning remains one of the major causes of death in most developed countries despite the fact that many of the victims are known to be at least moderate swimmers as well as healthy directly before the event. Here, fatal arrhythmias and especially the long QT syndrome (LQTS) have been proposed as the underlying mechanism which may be connected to mutations in one of the associated genes. The KCNQ1 gene is involved in the occurrence of LQT1 which may be triggered by swimming. Therefore, 176 cases of drowning were screened for mutations in the exons 3, 5, 6, 7, and 8 of the KCNQ1 gene which have been shown to harbor major mutation clusters. No variation to the published sequence could be found in the exonic DNA in any of the cases clearly disproving an involvement of these mutation clusters in cases of drowning.
Subject(s)
Drowning/mortality , KCNQ1 Potassium Channel/genetics , Mutation , Adolescent , Adult , Aged , Aged, 80 and over , Arrhythmias, Cardiac/genetics , Child , Child, Preschool , Exons , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
Suicidal ligature strangulation is a rare event. The most important issue to solve in the investigation is whether it is a case of homicide or suicide. The characteristics of suicidal ligature strangulation are summarized by Koops and Brinkmann with the emphasis on the nature of the ligature instrument(s). In this article, we present two cases of self-strangulation with an almost identical modus operandi using gymnastics bands. The autopsy findings and the nature of the ligature in these cases are depicted and in good accordance with the described typical observations in suicidal cases. The importance of a broad medico-legal investigation is demonstrated.
