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.

The Importance of Historical Medical Records Review in the Interpretation of Dry Bone Lesions on Identified Skeletal Remains: A Case Study of a Polymorbid Male (1895-1940).

ABSTRACT: The examination of documented skeletal remains provides an exceptional opportunity for biohistorical research to answer questions about an individual's life and death. Research in this area also makes it possible to assess the reliability of historical records from the period of interest, which is often the subject of discussion, especially in cases of historically known individuals. The remains of K.B.C. (1895-1940), a prominent local landowner and politician, were exhumed because of the repair of a family tomb in Jíloviste, Czech Republic. The aim of this study was to analyze pathological changes in his bones and to interpret these by comparing them with the results of a historical medical records review of private family and public archives regarding his diseases and death, thus verifying their credibility. Morphological and X-ray examinations of the bones revealed several serious pathological changes, whose presence fully corresponded to the studied documents. This showed the records' reliability, and it was thus possible to accurately interpret the lesions found. The results demonstrated the need for interdisciplinary collaboration in the analysis of such cases, including the assistance of the living descendants of the studied individuals, if possible.

[Traumatic changes of intrathoracic organs due to external mechanical cardiopulmonary resuscitation. Case reports]. / Úrazové zmeny nitrohrudních orgánu vzniklé pri externí mechanické kardiopulmonální resuscitaci. Kazuistiky.

UNLABELLED: External mechanical resuscitation systems were developed for continuous and effective chest compression with the goal to increase the probability of spontaneous blood circulation renew. We describe results of four autopsy cases, where the external mechanical resuscitation by system Lucas (n=3) and AutoPulse (n=1) was performed prior to death. In all the cases were found traumatic changes which are commonly described in various studies such as skin abrasions on the chest, multiple rib fractures, fracture of the sternum and hematoma in the mediastinum or pericardium. In addition to these usual traumatic changes accompanying mechanical cardiopulmonary resuscitation we have observed injuries of intrathoracic organs, mainly the contusions of the heart and contusions and laceration of the lungs. In addition to these changes were in one case, associated with prolonged AutoPulse resuscitation, found ruptures of intima of the right common carotid artery. These injuries, with few exceptions, are not commonly described even over much wider number of examined persons. Injuries of the abdominal organs in connection with mechanical resuscitation, as described in a few case reports, were not present. However in one case there was found contusion of myocardium due to the external resuscitation by the Lucas system with clinical manifestation of sudden coronary incident even though the cause of death was massive thrombotic embolism to pulmonary arteries. All reported cases were similar in the relatively long-lasting mechanic cardiopulmonary resuscitation and prolonged time of dying of the patients. KEYWORDS: cardiopulmonary resuscitation - Lucas - AutoPulse - intrathoracic injury.