Publication details

Sudden unexpected death and genetic analysis



Year of publication 2011
Type Conference abstract
Description Purpose: Death of a young person always means a tragedy, no matter the cause. When the death comes suddenly, unexpectedly and inexplicably, the tragedy becomes doubled. Although sudden unexpected 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. Recent studies showed that genetic disorders of ion channels are responsible for about 25% of sudden deaths. Expediency of genetic analysis brought in use the term "molecular autopsy“that already has become an integral part of forensic medicine. Methods: The aim of the project is to apply genetic analysis in cases of sudden unexpected deaths under 40 years of age, to discover the occurrence of particular genetic disturbances related to malignant arrhythmias (ion channels diseases - LQTS, CPVT, and HCM), 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: From 2009 till 2010 there were 5036 autopsies at Institute of Forensic Medicine, St. Anne's University Hospital Brno. After autopsy, histological and toxicological examination remains 20 "unexplained" deaths in persons below 40 years – 15 man, 5 women, and median age 33 years. From 15 relatives we get agreements with molecular autopsy, till end 2010 we examined 10 persons for genes for LQT: KCNQ1, KCNH2, KCNE1, SCN5A, KCNE2 and ANK2. We found some common polymorphisms – at SCNA gene we found G87A, IVS9-3c>a, A1673G(H558R), G3183A, IVS25+65g>a and C5457T. In two persons we found at KCNE2 gene mutation A22G(T8A), which was described as mutation for drug induced LQT syndrome, same mutation was found in 2 relatives – we performed interview with recommendations of potentially dangerous drugs to avoid. Relatives, who were willing to participate (together 27 persons from 10 families) had cardiology examination – with normal output: no clinical significance for cardiac pathology. Conclusions: Molecular autopsy is helping to state diagnose of sudden unexpected deaths 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 MZ NR/1044-3
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