Sudden death (SD) can be defined as the unexpected death of a healthy individual occurring within the first hour after the onset of symptoms or, if death is unwitnessed, within 24 h of the victim being seen in a healthy state. These events are of great social and scientific interest, especially when they involve young victims. Indeed, in those younger than 35 years SDs are commonly of cardiac origin (sudden cardiac death – SCD) and are frequently caused by inherited conditions, like cardiomyopathies and channelopathies. In all the cases of SCD caused by channelopathies and in different cases of SCD caused by cardiomyopathies (especially in pediatric age) the autopsy fails to find significant/clear microscopic/macroscopic anomalies that allow for reliable and certain causal inference (sudden unexplained death - SUD). In these cases, genetic testing performed on the samples of the victim and his/her relatives is often considered a good practice. However, diagnostic yields in these conditions are still sub-optimal and there are many technical and medico-legal issues connected with these procedures and with the interpretation of the genetic results. Moreover, there are many other issues relevant for the assessment of the pathogenic role of the found genotype, like the apparent relationship between some genetic variants and heart microscopic anomalies (e.g., mutations of genes involved into hypertrophic cardiomyopathy and myocardial bridging) and the overlap between genes involved in SCD and in Sudden Unexpected Death in Epilepsy (SUDEP).
The current Research Topic aims to collect contributions, in particular original research and reviews, regarding the main aspects of genetic testing and interpretation of genetic results in cases of SD (SCD, SUDEP, SIDS) with implications in terms of translational research and/or public health and/or pathology/forensic investigation, especially focusing on the implications for those younger than 35 years. Papers focused on the analysis of the relationship between rare/ambiguous autopsy findings and genetic variants in victims of SD are also welcomed.
Sudden death (SD) can be defined as the unexpected death of a healthy individual occurring within the first hour after the onset of symptoms or, if death is unwitnessed, within 24 h of the victim being seen in a healthy state. These events are of great social and scientific interest, especially when they involve young victims. Indeed, in those younger than 35 years SDs are commonly of cardiac origin (sudden cardiac death – SCD) and are frequently caused by inherited conditions, like cardiomyopathies and channelopathies. In all the cases of SCD caused by channelopathies and in different cases of SCD caused by cardiomyopathies (especially in pediatric age) the autopsy fails to find significant/clear microscopic/macroscopic anomalies that allow for reliable and certain causal inference (sudden unexplained death - SUD). In these cases, genetic testing performed on the samples of the victim and his/her relatives is often considered a good practice. However, diagnostic yields in these conditions are still sub-optimal and there are many technical and medico-legal issues connected with these procedures and with the interpretation of the genetic results. Moreover, there are many other issues relevant for the assessment of the pathogenic role of the found genotype, like the apparent relationship between some genetic variants and heart microscopic anomalies (e.g., mutations of genes involved into hypertrophic cardiomyopathy and myocardial bridging) and the overlap between genes involved in SCD and in Sudden Unexpected Death in Epilepsy (SUDEP).
The current Research Topic aims to collect contributions, in particular original research and reviews, regarding the main aspects of genetic testing and interpretation of genetic results in cases of SD (SCD, SUDEP, SIDS) with implications in terms of translational research and/or public health and/or pathology/forensic investigation, especially focusing on the implications for those younger than 35 years. Papers focused on the analysis of the relationship between rare/ambiguous autopsy findings and genetic variants in victims of SD are also welcomed.