Post-mortem examination of cases of sudden cardiac death. The Czech experience and the possibility of involving pathologists in a multidisciplinary process

Summary

Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant subset of cases. Identification of SCD, postmortem genetic analysis along with the cardiological screening in first degree relatives represents an important tool for the primary prevention of cardiac arrest in victim´s relatives and requires multicentric and multidisciplinary collaboration.

Given that post-mortem examination is also recommended for individuals dying several hours to days after cardiac arrest, the role of autopsy performing specialists is one of the key ones in identifying the possible hereditary cause of sudden cardiac death.

Genetic stratification and identification of a certain hereditary cause of sudden death is generally achieved in about 20 % of cases, however, in families with a positive history of sudden death or heart failure and / or malignant arrhythmias, genetic testing is successful in up to half of the families. In the Czech Republic, a grant project succeeded in establishing multidisciplinary and multicentre cooperation. The results of the first Czech pilot study in the period from 2016 to 2021 correspond to the results of international studies and underlines the interest of relatives and the benefits for their health. The construction of an effective cardiogenetic network for the detection and diagnosis of cases of sudden cardiac death in the Czech Republic is still ongoing and the involvement of pathologist performing the autopsy would be of great benefit in this kind of diagnostics

Keywords:

prevention – genetic analysis – sudden cardiac death – inherited cardiovascular diseases –family cascade screening