Publication details

Genetická analýza u náhle zemřelých do 40 let

Title in English Genetic analysis in cases of sudden deaths under 40 years


Year of publication 2012
Type Conference abstract
Description Introduction. Sudden cardiac death at a young age remains despite all the efforts in the 4.3% to 50% unexplained after autopsy. The purpose of this communication is to describe the diagnostic procedure for a more detailed determination of the cause of death through genetic analysis and assist clinical and genetic testing of relatives. Methods. After autopsy, in the cases of the deceased within 40 years, with little or no pathological-anatomical correlate of death there was performed genetic analysis of candidate genes for LQT (KCNQ1, KCNH2, KCNE1, SCN5A, KCNE2, ANK2) and gene TNNT2, subsequently performed cardiological examination in surviving relatives to identify families or individuals at risk of sudden cardiac death. Results. Between 2007 and 2010 at the Institute of Forensic Medicine there were examined a total of 10,301 deaths. Of these, 1,352 deaths under 40 years of age. Trauma as a cause of death was determined in 77.8% of deaths, pathological cause of death was 19.8%, in 2.4% of cases, death could not be determined. 13% of deaths from pathological cause (total 35 persons) had minimal or no anatomical correlate of death. Since 2008, when we started the project of genetic investigation of deaths by the end of June 2011 we examined 27 deceased people without pathological correlate. Within further investigation we found the common genetic polymorphisms in: the SCNA genes, KCNQ1, KCNH2 and KCNE1. In the case of 2 people there were found mutations in the gene KCNE2: A22G (T8A), which is described in the literature as potential mutation for drug induced LQT syndrome. In the case of 1 person has been found yet undescribed mutation in the gene KCNH2 (R892C), we continue to verify its incidence in the control group. Only 10 families of deaths (out of 27) were interested in the clinical examination - we examined a total of 39 people with normal findings. Conclusion: Molecular autopsy may help to determine the cause of death, but in our study the yield was not great. One possible explanation is the examination in a small ensemble. Further development of genetic investigation will likely lead to increased possibilities for use. The research was supported by grant IGA MZ CR 1044-3.
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