Veronika Králíková, Adriana Gavronová, Lukáš Hamerlik, Václav Svrchokryl, Marek Vitovják, Hajin Kim, Veronika Šidová, Jana Bednaříková, Martin Dobiáš
The authors review the literature on the determination of post-mortem serum tryptase values and present the case of a young man who was hit by a train. However, his family believes he has no motivation to commit suicide. Collision with a train is one of the most common methods of suicide, especially among young men under 40 years of age. (1). The forensic autopsy showed that the man died due to the collision with the train, with traumatic hemorrhagic shock stated as a cause of death. Following toxicological, biochemical, and immunological tests created a supposition that the incident was not a result of suicidal action but a consequence of a possible allergic or anaphylactic reaction of the organism combined with a state of mild alcohol intoxication.
{"title":"Suicide or not? Issues in the demonstration of anaphylaxis, a review of the literature.","authors":"Veronika Králíková, Adriana Gavronová, Lukáš Hamerlik, Václav Svrchokryl, Marek Vitovják, Hajin Kim, Veronika Šidová, Jana Bednaříková, Martin Dobiáš","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The authors review the literature on the determination of post-mortem serum tryptase values and present the case of a young man who was hit by a train. However, his family believes he has no motivation to commit suicide. Collision with a train is one of the most common methods of suicide, especially among young men under 40 years of age. (1). The forensic autopsy showed that the man died due to the collision with the train, with traumatic hemorrhagic shock stated as a cause of death. Following toxicological, biochemical, and immunological tests created a supposition that the incident was not a result of suicidal action but a consequence of a possible allergic or anaphylactic reaction of the organism combined with a state of mild alcohol intoxication.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"68 3","pages":"30-32"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41141210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Martin Zeman, Štěpánka Pohlová Kučerová, Tomáš Vojtíšek, Petr Hejna
Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis, and the cardiological screening examination in victim´s relatives represent an important diagnostic tool for the primary prevention of cardiac arrest. Based on global and European recommendations, cases of sudden cardiac death in individuals under the age of 40 with negative or ambiguous autopsy findings, or findings suspicious for hereditary cardiovascular disease, should be investigated using molecular genetic methods. Based on European guidelines, the Czech Society of Forensic Medicine and Forensic Toxicology has developed its own recommended procedure, which summarizes the identification of these cases, the optimal autopsy procedure, including the collection of material, and a summary of other necessary actions for performing a post mortem genetic examination in a person who has died suddenly. Complex examination of these cases requires multicentric and multidisciplinary collaboration.
{"title":"Standard autopsy and diagnostic procedure in forensic departments in cases of sudden cardiac death (SCD) in individuals under 40 years of age.","authors":"Martin Zeman, Štěpánka Pohlová Kučerová, Tomáš Vojtíšek, Petr Hejna","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis, and the cardiological screening examination in victim´s relatives represent an important diagnostic tool for the primary prevention of cardiac arrest. Based on global and European recommendations, cases of sudden cardiac death in individuals under the age of 40 with negative or ambiguous autopsy findings, or findings suspicious for hereditary cardiovascular disease, should be investigated using molecular genetic methods. Based on European guidelines, the Czech Society of Forensic Medicine and Forensic Toxicology has developed its own recommended procedure, which summarizes the identification of these cases, the optimal autopsy procedure, including the collection of material, and a summary of other necessary actions for performing a post mortem genetic examination in a person who has died suddenly. Complex examination of these cases requires multicentric and multidisciplinary collaboration.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"68 1","pages":"2-10"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9424779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucia Ihnát Rudinská, Patricie Delongová, Jana Vaculová, Peter Ihnát
Pulmonary fat embolism (PFE) is usually observed in patients with long bone fractures, patients with extensive subcutaneous fat contusions or skin burns. Chest compressions during cardiopulmonary resuscitation (CPR) present powerful repetitive violence against victim's chest. Skeletal chest fractures are the most frequent complication of CPR, and probably the most important cause of PFE autopsy finding in persons, which have been resuscitated before death. The aim of the present paper was to investigate the prevalence and seriousness of PFE in non-survivors after out-of-hospital cardiac arrest. During autopsy, PFE can be diagnosed in 30 - 42 % of persons after unsuccessful CPR; skeletal chest fractures are associated with significantly higher prevalence of PFE. After successful CPR, fat embolism may contribute significantly to acute respiratory distress syndrome, or multiorgan failure. The issue of CPR associated injuries has two medical aspects - clinical and forensic. From clinical point of view, the presence of CPR associated injuries must be acknowledged when offering healthcare to patients after successful CPR. During autopsy, CPR associated injuries should be diagnosed and evaluated as these injuries may contribute to death or may be potentially lethal.
{"title":"Pulmonary fat embolism after cardiopulmonary resuscitation.","authors":"Lucia Ihnát Rudinská, Patricie Delongová, Jana Vaculová, Peter Ihnát","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Pulmonary fat embolism (PFE) is usually observed in patients with long bone fractures, patients with extensive subcutaneous fat contusions or skin burns. Chest compressions during cardiopulmonary resuscitation (CPR) present powerful repetitive violence against victim's chest. Skeletal chest fractures are the most frequent complication of CPR, and probably the most important cause of PFE autopsy finding in persons, which have been resuscitated before death. The aim of the present paper was to investigate the prevalence and seriousness of PFE in non-survivors after out-of-hospital cardiac arrest. During autopsy, PFE can be diagnosed in 30 - 42 % of persons after unsuccessful CPR; skeletal chest fractures are associated with significantly higher prevalence of PFE. After successful CPR, fat embolism may contribute significantly to acute respiratory distress syndrome, or multiorgan failure. The issue of CPR associated injuries has two medical aspects - clinical and forensic. From clinical point of view, the presence of CPR associated injuries must be acknowledged when offering healthcare to patients after successful CPR. During autopsy, CPR associated injuries should be diagnosed and evaluated as these injuries may contribute to death or may be potentially lethal.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"68 3","pages":"33-36"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41168584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Richard Sivulič, Martin Janík, Veronika Rybárová, Ján Bajaj, Ubomír Straka
A complex suicide defines a combination of multiple suicidal methods the victim successively or concurrently carries out. We present a case of a 72-year old man found dead on the railtrack, seemingly committing simple train-related suicide. Flobert revolver - a small caliber handgun was found nearby. Herein, we emphasize the significance of a thorough external examination, stress the fact that victim can act after low-energy projectile trauma and match our case to a similar complex suicide.
{"title":"An unplanned complex suicide with 6 mm Flobert revolver and train crash: a case report.","authors":"Richard Sivulič, Martin Janík, Veronika Rybárová, Ján Bajaj, Ubomír Straka","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A complex suicide defines a combination of multiple suicidal methods the victim successively or concurrently carries out. We present a case of a 72-year old man found dead on the railtrack, seemingly committing simple train-related suicide. Flobert revolver - a small caliber handgun was found nearby. Herein, we emphasize the significance of a thorough external examination, stress the fact that victim can act after low-energy projectile trauma and match our case to a similar complex suicide.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"68 2","pages":"15-18"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9847643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The authors summarize the current state of knowledge of electric shock as a minority group of injuries in forensic practice. Initially, they deal with electric current as a physical quantity and its effect on the human body, how it enters and moves in the body, which tissues due to their electrical activity and properties are the best conductors and which, on the contrary, due to their high resistance, practically do not conduct current. Subsequently, different pathways of current passage through the body are mentioned, leading to different types of damage, the most serious of which appears to be damage to the cardiovascular system, which can lead to immediate death due to disturbed heart rhythm with subsequent arrest, but is also likely to leave permanent effects leading to late health complications. The effect of electric current at the cellular level is demonstrated in experimental animal models exposed to both low- and high-voltage electric current, with damage described not only at the site of entry but also by microscopic examination in organs distant from the site of direct electric current. Since the effect of electric current on the organism is not fully understood and experimental studies have produced results indicating damage mainly to the cardiovascular system, this opens up certain possibilities for improving not only the diagnosis of deaths due to electric shock but also the follow-up care of patients who survive these injuries.
{"title":"Issues of electric shock in forensic medical practice.","authors":"Markéta Kulvajtová, Radoslav Matěj, Jiří Hladík","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The authors summarize the current state of knowledge of electric shock as a minority group of injuries in forensic practice. Initially, they deal with electric current as a physical quantity and its effect on the human body, how it enters and moves in the body, which tissues due to their electrical activity and properties are the best conductors and which, on the contrary, due to their high resistance, practically do not conduct current. Subsequently, different pathways of current passage through the body are mentioned, leading to different types of damage, the most serious of which appears to be damage to the cardiovascular system, which can lead to immediate death due to disturbed heart rhythm with subsequent arrest, but is also likely to leave permanent effects leading to late health complications. The effect of electric current at the cellular level is demonstrated in experimental animal models exposed to both low- and high-voltage electric current, with damage described not only at the site of entry but also by microscopic examination in organs distant from the site of direct electric current. Since the effect of electric current on the organism is not fully understood and experimental studies have produced results indicating damage mainly to the cardiovascular system, this opens up certain possibilities for improving not only the diagnosis of deaths due to electric shock but also the follow-up care of patients who survive these injuries.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"68 2","pages":"12-14"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9847646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The content of this paper is the evaluation of data related to alcohol (ethanol, ethyl alcohol) and drugs in deceased active participants of traffic accidents for the years 2016-2021 obtained from the National Registry of Autopsies and Toxicological Examinations performed at the Department of Forensic Medicine and their comparison with the data of the Police Presidium of the Czech Republic. The sample included 2,715 deceased active road users, and their required data is available in both these sources. Only 72% of them were tested for alcohol, of whom 24% were found to have a blood alcohol concentration higher than 0.2 g/kg. Toxicological testing for substances other than alcohol was carried out in only 49% of the whole research file. Some substance from the list of addictive substances was detected in 120 deceased active road users (9% of those toxicologically examined). The concentration of these substances reached values affecting the ability to drive safely in 7 persons and excluding the ability to drive safely in 11 persons. The low percentage of toxicological tests carried out may be partly explained by the fact that in some cases the persons concerned may have survived for a certain period of time when toxicological testing was no longer considered relevant. Since there were no persons in our cohort who died more than 24 hours after death, we consider such reasoning to be not entirely correct. Therefore, we believe that the low number of examinations is mainly due to an attempt to save funds when toxicological examination was not required by the Police of the Czech Republic (if a forensic autopsy was ordered at all). The Police of the Czech Republic does not keep statistics on the presence of alcohol or other addictive substances in road accident deaths, but only in those who are at fault in road accidents. Data from the Police Presidium of the Czech Republic show that in 2016-2021, 57 persons were killed in traffic accidents where drugs were detected in the culprit in the accident. However, in our cohort, narcotic and psychotropic substances were detected in the blood (blood serum) of 120 deceased active participants of traffic accidents. This could be explained by the fact that at least 63 deceased active road users who were found to have narcotic and psychotropic substances were not at fault for the accident in which they died. However, a much more likely explanation is that the statistics of the Police Presidium of the Czech Republic are far from recording all culprits in the accident who are under the influence of drugs. This will especially apply to drivers who died in an accident that they were at fault for and when the police often did not order a forensic autopsy and thus a toxicological examination. In practice, toxicological examination of deceased active participants in traffic accidents applied only selectively means a significant distortion of statistical data on the presence of alcohol or addictive substances in the de
{"title":"Alcohol and addictive substances in deceased active participants of traffic accidents.","authors":"Monika Másilková, František Vorel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The content of this paper is the evaluation of data related to alcohol (ethanol, ethyl alcohol) and drugs in deceased active participants of traffic accidents for the years 2016-2021 obtained from the National Registry of Autopsies and Toxicological Examinations performed at the Department of Forensic Medicine and their comparison with the data of the Police Presidium of the Czech Republic. The sample included 2,715 deceased active road users, and their required data is available in both these sources. Only 72% of them were tested for alcohol, of whom 24% were found to have a blood alcohol concentration higher than 0.2 g/kg. Toxicological testing for substances other than alcohol was carried out in only 49% of the whole research file. Some substance from the list of addictive substances was detected in 120 deceased active road users (9% of those toxicologically examined). The concentration of these substances reached values affecting the ability to drive safely in 7 persons and excluding the ability to drive safely in 11 persons. The low percentage of toxicological tests carried out may be partly explained by the fact that in some cases the persons concerned may have survived for a certain period of time when toxicological testing was no longer considered relevant. Since there were no persons in our cohort who died more than 24 hours after death, we consider such reasoning to be not entirely correct. Therefore, we believe that the low number of examinations is mainly due to an attempt to save funds when toxicological examination was not required by the Police of the Czech Republic (if a forensic autopsy was ordered at all). The Police of the Czech Republic does not keep statistics on the presence of alcohol or other addictive substances in road accident deaths, but only in those who are at fault in road accidents. Data from the Police Presidium of the Czech Republic show that in 2016-2021, 57 persons were killed in traffic accidents where drugs were detected in the culprit in the accident. However, in our cohort, narcotic and psychotropic substances were detected in the blood (blood serum) of 120 deceased active participants of traffic accidents. This could be explained by the fact that at least 63 deceased active road users who were found to have narcotic and psychotropic substances were not at fault for the accident in which they died. However, a much more likely explanation is that the statistics of the Police Presidium of the Czech Republic are far from recording all culprits in the accident who are under the influence of drugs. This will especially apply to drivers who died in an accident that they were at fault for and when the police often did not order a forensic autopsy and thus a toxicological examination. In practice, toxicological examination of deceased active participants in traffic accidents applied only selectively means a significant distortion of statistical data on the presence of alcohol or addictive substances in the de","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"68 2","pages":"19-23"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9847648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This paper presents a case of double murder in which different mechanisms of suffocation, involving smothering, burking, and manual strangulation, were used. The victims are usually elderly people with disabilities and social isolation. The cases described here involve two women who were disabled and were murdered through blockage of the airway. Even though similar suffocating mechanisms were used in the murders, the autopsy findings differed between the two cases. This difference between the two can be explained by a preexisting medical condition that the younger victim had, which was quadriplegia resulting from cerebral hemorrhage, which limited herself-defense ability.
{"title":"Multiple forms of suffocation used in double murder.","authors":"Handlos Petr, Uvíra Matěj, Klabal Ondřej, Joukal Marek, Handlosová Klára","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This paper presents a case of double murder in which different mechanisms of suffocation, involving smothering, burking, and manual strangulation, were used. The victims are usually elderly people with disabilities and social isolation. The cases described here involve two women who were disabled and were murdered through blockage of the airway. Even though similar suffocating mechanisms were used in the murders, the autopsy findings differed between the two cases. This difference between the two can be explained by a preexisting medical condition that the younger victim had, which was quadriplegia resulting from cerebral hemorrhage, which limited herself-defense ability.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"67 3","pages":"30-33"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33500844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Krajsa Jan, Straka Ubomír, Rybárová Veronika, Kumičíková Ivana, Hirt Miroslav
Breath analyzers are commonly used to test alcohol intoxication, most often to detect elevated systemic levels of ethanol by employees during working hours or drink-driving drivers. Many scientific studies describe the effect of inhaled ethanol vapors in the ambient air or the application of mouthwash before the breath test. This preliminary study interprets false positivity of the breath test after consumption over-the-counter confectionery.
{"title":"Confectionary containing alcohol and their effect on breath analyzer results: a preliminary study.","authors":"Krajsa Jan, Straka Ubomír, Rybárová Veronika, Kumičíková Ivana, Hirt Miroslav","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Breath analyzers are commonly used to test alcohol intoxication, most often to detect elevated systemic levels of ethanol by employees during working hours or drink-driving drivers. Many scientific studies describe the effect of inhaled ethanol vapors in the ambient air or the application of mouthwash before the breath test. This preliminary study interprets false positivity of the breath test after consumption over-the-counter confectionery.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"67 4","pages":"39-41"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9210443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This article reports an autopsy of a 39-year-old deceased male who had done suicidal strangulation using multiple self-locking cable ties. The deceased used seven ligatures, constricting at a different level around the neck to accomplish the suicidal strangulation. Each ligature was made up of two cable ties attached to each other. The detailed autopsy examination and crime scene investigation confirm the manner of strangulation as suicidal. Suicidal strangulation is uncommon but not rare. Varying ligature materials and different locking methods were used for this purpose. The present case is remarkable because of the use of multiple self-locking zip cable ties as ligature material.
{"title":"Self-ligature strangulation by multiple cable ties.","authors":"Thube R Harshal, Sane R Mandar","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This article reports an autopsy of a 39-year-old deceased male who had done suicidal strangulation using multiple self-locking cable ties. The deceased used seven ligatures, constricting at a different level around the neck to accomplish the suicidal strangulation. Each ligature was made up of two cable ties attached to each other. The detailed autopsy examination and crime scene investigation confirm the manner of strangulation as suicidal. Suicidal strangulation is uncommon but not rare. Varying ligature materials and different locking methods were used for this purpose. The present case is remarkable because of the use of multiple self-locking zip cable ties as ligature material.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"67 4","pages":"36-38"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10344379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis along with the cardiological screening examination in first degree represents an important diagnostic tool for the primary prevention of cardiac arrest in victim´s relatives and requires multicentric and multidisciplinary collaboration. Between 2016 and 2021 the complex cardiogenetic analysis was performed in 115 deaths with post mortem diagnosis of cardiomyopathy, acute aortic dissection and cases without morphological finding explaining the cause of death (sudden arrhythmic death or sudden unexplained death). DNA was isolated from post mortem collected tissue samples or relative´s blood and subjected to massively parallel sequencing (Illumina, USA) in extent of 100 to 20 000 genes. Sequencing results were analysed using the SOPHiA GENETICS DDM bioinformatics platform (Switzerland). Genetic counselling and cardiological examinations were carried out in 328 family members. Highly likely or certain molecular aetiology (i.e. based on presence of ACMG.net Class 4 to 5 variants) was disclosed in 19,8 % of analysed cases in RYR2, KCNH2, KCNQ1, SCN5A, FLNC (stop), GLA, TTN, TNNT2, RBM 20, MYBPC3, MYPN, FHL1, TGFBR1, and COL3A1 genes. With cardiogenetic screening we identified 25 % relatives at risk of life threating arrhythmias and offered them an individualised care.
{"title":"Outcomes of a multicenter study of the causes of sudden cardiac death (SCD) in the Czech Republic and primary prevention of cardiac arrest in relatives.","authors":"Kučerová Pohlová Štěpánka, Krebsová Alice, Votýpka Pavel, Peldová Petra, Kulvajtová Markéta, Dohnalová Petra, Bílek Matěj, Stufka Veronika, Rücklová Kristina, Grossová Iva, Wünschová Hanka, Tavačová Terezia, Hašková Jana, Segeťová Markéta, Gřegořová Andrea, Zoubková Veronika, Petřková Jana, Dobiáš Martin, Makuša Michal, Blanková Alžběta, Veitr David, Řehulka Hynek, Šubrt Ivan, Pilin Alexander, Tomášek Petr, Janoušek Jan, Kautzner Josef, Macek Milan","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis along with the cardiological screening examination in first degree represents an important diagnostic tool for the primary prevention of cardiac arrest in victim´s relatives and requires multicentric and multidisciplinary collaboration. Between 2016 and 2021 the complex cardiogenetic analysis was performed in 115 deaths with post mortem diagnosis of cardiomyopathy, acute aortic dissection and cases without morphological finding explaining the cause of death (sudden arrhythmic death or sudden unexplained death). DNA was isolated from post mortem collected tissue samples or relative´s blood and subjected to massively parallel sequencing (Illumina, USA) in extent of 100 to 20 000 genes. Sequencing results were analysed using the SOPHiA GENETICS DDM bioinformatics platform (Switzerland). Genetic counselling and cardiological examinations were carried out in 328 family members. Highly likely or certain molecular aetiology (i.e. based on presence of ACMG.net Class 4 to 5 variants) was disclosed in 19,8 % of analysed cases in RYR2, KCNH2, KCNQ1, SCN5A, FLNC (stop), GLA, TTN, TNNT2, RBM 20, MYBPC3, MYPN, FHL1, TGFBR1, and COL3A1 genes. With cardiogenetic screening we identified 25 % relatives at risk of life threating arrhythmias and offered them an individualised care.</p>","PeriodicalId":35533,"journal":{"name":"Soudni Lekarstvi","volume":"67 2","pages":"10-24"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40541241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}