Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.

Sudden cardiac death (SCD) might have an inherited cardiac condition background. Genetic testing supports post-mortem diagnosis and screening of relatives at risk. Our aim is to determine the feasibility of a Czech national collaboration group and to establish the clinical importance of molecular autopsy and family screening. From 2016 to 2021, we have evaluated 100 unrelated SCD cases (71.0% males, age: 33.3 (12.8) years). Genetic testing was performed by next-generation sequencing utilizing a panel of 100 genes related to inherited cardiac/aortic conditions and/or whole exome sequencing. According to autopsy, cases were divided into cardiomyopathies, sudden arrhythmic death syndrome, sudden unexplained death syndrome, and sudden aortic death. We identified pathogenic/likely pathogenic variants following ACMG/AMP recommendations in 22/100 (22.0%) of cases. Since poor DNA quality, we have performed indirect DNA testing in affected relatives or in healthy parents reaching a diagnostic genetic yield of 11/24 (45.8%) and 1/10 (10.0%), respectively. Cardiological and genetic screening disclose 83/301 (27.6%) relatives at risk of SCD. Genetic testing in affected relatives as starting material leads to a high diagnostic yield offering a valuable alternative when suitable material is not available. This is the first multidisciplinary/multicenter molecular autopsy study in the Czech Republic which supports the establishment of this type of diagnostic tests. A central coordinator and proper communication among centers are crucial for the success of a collaboration at a national level.

[Fatal head injury caused by a crossbow arrow with unusually preserved posttraumatic volitional activity - case report]. / Smrtelné poranení hlavy sípem vystreleným z kuse s neobvykle zachovanou poúrazovou volní aktivitou - kazuistika.

The authors deal with a case of suicidal attempt resulting in a fatal head injury. A young man shot himself with a serially produced mechanical sports crossbow. The young man with a critical intracranial injury, a penetration, was nevertheless capable of basic locomotive activity, as well as of coherent communication with another people present at the scene. The critically injured patient was transported from the scene directly to medical centre where he subsequently underwent a neurologic surgery. On the eight day after the incident he died in the hospital as a result of sustained wounds. During the autopsy, a penetrating arrow-shot wound head injury was certified, occurring in the right and left temple area. Signs of a complex decompressive craniectomy were established too. The shooting channel was generally horizontally oriented, extending from the right to the left side, from behind in a 10 up to 15 degrees angle to the frontal plane, penetrating the brain from the right temple lobe and the frontal lobe, thereby pervading also frontal horns of lateral ventricles, and from the left afflicting the frontal lobe on the left side of the brain. In the course of the shooting channel, brain contusion occurred, accompanied by intraventricular haemorrhage. In addition, a heavy cerebral oedema, multiple secondary malacias, Durett haemorrhages and extensive thrombosis of cerebral sinuses were stated. In the course of police investigation, based mainly on the information given by the wounded man right after he had been found at the scene, it was revealed that another person might have been involved. The forensic autopsy, the investigation of the Police and the subsequent criminalist-ballistics expert investigation, supported by a series of experimental substitutive target shots, didnt, however, decidedly prove that any other culprit had been involved.