Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects.
Cocaine and alcohol toxicity is well known, especially when simultaneously abused. These drugs perform both acute and chronic harmfulness, with significant cardiac events such as ventricular arrhythmias, tachycardia, systemic hypertension, acute myocardial infarction, ventricular hypertrophy, and acute coronary syndrome. The present report refers about a patient who died after a documented episode of psychomotor agitation followed by cardiac arrest. At the autopsy investigation, arrhythmogenic right ventricular cardiomyopathy (ARVC) was diagnosed and confirmed by postmortem molecular analysis revealing a mutation in the DSG2 gene. Postmortem toxicological analysis demonstrated a recent intake of cocaine, and the death was attributed to cardiac arrhythmias. The detection of cocaine and cocaethylene in hair samples proved chronic simultaneous intake of cocaine and alcohol at least in the last month. The authors discuss the role of these drugs and genetic predisposition of the ARVC in causing the death of the patient.
Institute of Public Health, Section of Legal Medicine, Catholic University, Rome, Italy.
Francesca
F
Cittadini
Nadia
N
De Giovanni
Mireia
M
Alcalde
Sara
S
Partemi
Arnaldo
A
Carbone
Oscar
O
Campuzano
Ramon
R
Brugada
Antonio
A
Oliva
D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics*; D002492:Central Nervous System Depressants / Q000009:adverse effects* / Q000032:analysis; D003042:Cocaine / Q000031:analogs & derivatives / Q000032:analysis; D019970:Cocaine-Related Disorders / Q000175:diagnosis*; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D051301:Desmoglein 2 / Q000235:genetics*; D004562:Electrocardiography; D000431:Ethanol / Q000009:adverse effects* / Q000032:analysis; D053593:Forensic Toxicology; D006197:Hair / Q000737:chemistry; D006323:Heart Arrest / Q000209:etiology; D006801:Humans; D008297:Male; D009154:Mutation; D009294:Narcotics / Q000032:analysis; D013616:Tachycardia, Sinus / Q000209:etiology
D002492:Central Nervous System Depressants; C495314:DSG2 protein, human; D051301:Desmoglein 2; D009294:Narcotics; D000431:Ethanol; C066444:cocaethylene; D003042:Cocaine