Sudden death, occurring less than 24 hours after symptom onset or after an unexplained cause, is a significant event that deeply impacts both the family and the society.
Major causes of sudden death include cardiac, metabolic, and neurological conditions.
Immediate psychological and social support for the family is essential, but it is also a unique moment to seek answers – providing the family with information on the availability, limits, and implications of possible testing.
Beyond the clinical history, laboratory tests, both macroscopic and microscopic autopsy (of the body and tissues), advances in genetic sequencing allow now for molecular autopsies: postmortem genetic testing aiming to identify the underlying cause of death.
Genetic etiology accounts for a significant number of sudden death cases, especially in paediatric populations. This type of study (mass genetic sequencing) enables a diagnosis in approximately one-third of cases where macroscopic autopsy was inconclusive.
The diagnosis is vital, not only as part of the grieving process but also to identify at-risk family members, which can lead to preventative measures for survivors and even inform reproductive options (should there be a risk of the condition recurring in future generations).
Today, it is essential to discuss and establish hospital protocols that enhance coordination among hospital teams (medical, nursing, and laboratory staff), define processes, and improve response outcomes.
