Lunetta Philippe, Levo Antti, Laitinen Päivi J, Fodstad Heidi, Kontula Kimmo, Sajantila Antti
Department of Forensic Medicine, PO Box 40, 00014 University of Helsinki, Finland.
Int J Legal Med. 2003 Apr;117(2):115-7. doi: 10.1007/s00414-002-0331-x. Epub 2003 Feb 28.
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.
长QT综合征（LQTS）与单次意外溺水或近乎溺水事件的关联最近已得到强调，但目前尚无关于溺水受害者中LQTS患病率的数据。在本研究中，我们回顾性筛查了芬兰连续发现的165具水中尸体的KCNQ1（KVLQT1）和KCNH2（HERG）基因中的特定始祖突变。我们在一名44岁女性中发现了KCNH2 - Fin突变，其死亡被归类为自杀性溺水，而在其余164名受害者中未发现其他两个LQTS始祖突变的携带者。本研究首次估计了在这种情况下LQTS的最低患病率（0.61%，95%置信区间：0.02 - 3.33），并证明了在疑似溺亡中进行LQTS基因分析的价值。基于我们的研究样本，在水中发现的尸体中检测到LQTS始祖突变是相对罕见的事件。然而，这一发现具有极其重要的法医学意义，因为它拓宽了潜在死因和死亡方式的范围。
