Informace o publikaci

Genetic Analysis of Sudden Deaths in Young People



Rok publikování 2012
Druh Konferenční abstrakty
Popis Aim of the study: Authors present a project concerning the possibility of genetic testing in cases of sudden deaths of people under 40 years of age. Although sudden death in young age is relatively rare, in 4,3% to 50% cases it remains unexplained even after autopsy. In these cases, we suppose a malignant arrhythmia to be the leading cause of death. The aim of this project is to establish the diagnostic process to determine the frequency of genetic pathologies related to malignant arrhythmias and also combine genetic analysis with clinical examination of relatives of deceased by a cardiologist.Methods: The aim of the project is to apply genetic analysis in cases of sudden deaths under 40 years of age, to discover the occurrence of particular genetic disturbances related to malignant arrhythmias (genes: KCNQ1, KCNH2, KCNE1, SCN5A, KCNE2, ANK2 and TNNT2) and to perform clinical examination (physical examination, ECG and echocardiographic examinations, 24-Hour Ambulatory ECG Monitoring and exercise ECG testing) of surviving relatives aimed to identify the families endangered by sudden cardiac death.Results: At Institute of Forensic Medicine in the period from 2007 to 2010 autopsy was performed in a total of 10,301 deaths. There were 1352 deaths below 40 years of age. Traumatic cause of death was determined in 77.8% of deaths (1052 persons), pathological cause in 19.8% detahs (267 persons). Pathological causes of death (267 persons) in young individuals were then surveyed in the various diagnostic groups. The majority of deaths was due the cardiovascular disease - 28.46% (76 people). The second largest group in this age category - over 13% of deaths (35 people) – was unexpected death, the cause of death has not been possible to determine precisely. Among others, a relatively large group of early diagnosis the causes of death were diseases of the digestive system (10.49%), respiratory system (10.11%) and nervous system (8.61%). From the year 2008 we started project of genetic testing: till May 2011 there were 27 unexpected deaths. We found some common polymorphisms – at SCNA gene ( G87A, IVS9-3c>a, A1673G(H558R), G3183A, IVS25+65g>a and C5457T), KCNQ1 gene (Y662Y, C642C, S546S), KCNH2 gene (IVS13, Y652Y, I489I, F513F, Y447Y), KCNE1 gene (G38S). In two persons we found at KCNE2 gene mutation A22G(T8A), which was described as mutation for drug induced LQT syndrome, In one persons we found not yet described mutation in gene KCNH2 (R892C) and we will verify incidence of this mutation among control group. From this 27 persons only 10 families (together 30 peoples) agrred with clinical examination – with normal output: no clinical significance for cardiac pathology.Conclusions: Molecular autopsy could help to specify diagnosis of sudden death and has advantage for survived relatives. Future possibilities would probably help to discover more genes responsible for sudden unexpected deaths. Research sponsored by grant IGA MH CZ NR/1044-3
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