Highlights
- •Post mortem cases with positive toxicological findings were carriers of more rare genetic variants and were significantly younger than negative.
- •Psychopharmacological drugs were identified in 22.3% of cases of sudden cardiac death.
- •Molecular autopsy identified an association between antiepileptic drugs or caffeine and pathogenic or likely pathogenic variants in arrhythmogenic genes.
- •Specific substances could play an essential role as triggers of SCD in genetically predisposed young people.
Abstract
Risk of sudden cardiac death (SCD) increases with age, and several studies have examined
the impact of different drugs on cardiovascular function. However, few studies have
integrated epidemiological drug consumption data and genetic background in the context
of cardiac death. We performed a retrospective population-based study in forensic
sudden death cases from a 9-year period in Catalonia. The young cohort included 924
cases 18–50 years old, 566 of which had a cardiac cause of death. Complete autopsy,
toxicological, and histopathological studies were performed. Molecular autopsy using
next-generation sequencing was performed in nearly 400 cardiac cases. Cases related
with fatal acute intoxication were excluded. Drug consumption prevalence was similar
between forensic cases of cardiac and non-cardiac origin (62.5% versus 69.5%), with
the exception of alcohol, which was more prevalent in the cardiac group than in the
non-cardiac group (23.3% versus 17.1%). Individuals in the toxicology-positive group
were carriers of more rare genetic variants and were significantly younger than the
toxicology-negative group. Psychopharmacological drugs were identified in 22.3% of
cardiac cases, and molecular autopsy identified an association between antiepileptic
drugs or caffeine and pathogenic or likely pathogenic variants in arrhythmogenic genes.
Specific substances could therefore play an essential role as triggers of SCD in genetically
predisposed young people.
Keywords
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Article info
Publication history
Published online: May 16, 2022
Accepted:
May 12,
2022
Received in revised form:
April 12,
2022
Received:
December 21,
2021
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.
