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可卡因和酒精作用下致心律失常性右室心肌病(ARVC)患者心脏性猝死的遗传与毒理学研究

Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects.

作者信息

Cittadini Francesca, De Giovanni Nadia, Alcalde Mireia, Partemi Sara, Carbone Arnaldo, Campuzano Oscar, Brugada Ramon, Oliva Antonio

机构信息

Institute of Public Health, Section of Legal Medicine, Catholic University, Rome, Italy.

出版信息

Int J Legal Med. 2015 Jan;129(1):89-96. doi: 10.1007/s00414-014-1119-5. Epub 2014 Nov 16.

DOI:10.1007/s00414-014-1119-5
PMID:25399050
Abstract

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.

摘要

可卡因和酒精中毒广为人知,尤其是在同时滥用的情况下。这些药物会造成急性和慢性危害,引发严重的心脏事件,如室性心律失常、心动过速、系统性高血压、急性心肌梗死、心室肥厚和急性冠状动脉综合征。本报告讲述了一名患者,在有记录的精神运动性激越发作后心脏骤停死亡。尸检调查诊断为致心律失常性右室心肌病(ARVC),死后分子分析证实DSG2基因存在突变。死后毒理学分析显示近期摄入过可卡因,死亡归因于心律失常。毛发样本中检测到可卡因和可卡乙碱,证明至少在过去一个月内长期同时摄入可卡因和酒精。作者讨论了这些药物以及ARVC的遗传易感性在导致患者死亡中的作用。

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