Literature DB >> 25399050

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

Francesca Cittadini1, Nadia De Giovanni, Mireia Alcalde, Sara Partemi, Arnaldo Carbone, Oscar Campuzano, Ramon Brugada, Antonio Oliva.   

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.

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Year:  2014        PMID: 25399050     DOI: 10.1007/s00414-014-1119-5

Source DB:  PubMed          Journal:  Int J Legal Med        ISSN: 0937-9827            Impact factor:   2.686


  32 in total

1.  Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices.

Authors:  Katarzyna Michaud; Patrice Mangin; Bernice S Elger
Journal:  Int J Legal Med       Date:  2010-06-11       Impact factor: 2.686

2.  Molecular pathology in forensic medicine--Introduction.

Authors:  Burkhard Madea; Pekka Saukko; Antonio Oliva; Frank Musshoff
Journal:  Forensic Sci Int       Date:  2010-08-21       Impact factor: 2.395

Review 3.  Analytical toxicology: guidelines for sample collection postmortem.

Authors:  Robert J Flanagan; Geraldine Connally; Julie M Evans
Journal:  Toxicol Rev       Date:  2005

Review 4.  Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations.

Authors:  Thomas Herren; Philipp A Gerber; Firat Duru
Journal:  Clin Res Cardiol       Date:  2009-02-09       Impact factor: 5.460

Review 5.  Negative autopsy and sudden cardiac death.

Authors:  Oscar Campuzano; Catarina Allegue; Sara Partemi; Anna Iglesias; Antonio Oliva; Ramon Brugada
Journal:  Int J Legal Med       Date:  2014-02-16       Impact factor: 2.686

6.  Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.

Authors:  Srijita Sen-Chowdhry; Petros Syrris; Deirdre Ward; Angeliki Asimaki; Elias Sevdalis; William J McKenna
Journal:  Circulation       Date:  2007-03-19       Impact factor: 29.690

7.  Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.

Authors:  Petros Syrris; Deirdre Ward; Angeliki Asimaki; Alison Evans; Srijita Sen-Chowdhry; Sian E Hughes; William J McKenna
Journal:  Eur Heart J       Date:  2006-11-14       Impact factor: 29.983

8.  Cocaine in sudden and unexpected death: a review of 49 post-mortem cases.

Authors:  Jennifer L Pilgrim; Noel Woodford; Olaf H Drummer
Journal:  Forensic Sci Int       Date:  2012-09-13       Impact factor: 2.395

Review 9.  Genetics of arrhythmogenic right ventricular cardiomyopathy.

Authors:  Oscar Campuzano; Mireia Alcalde; Catarina Allegue; Anna Iglesias; Pablo García-Pavía; Sara Partemi; Antonio Oliva; Vincenzo L Pascali; Paola Berne; Georgia Sarquella-Brugada; Josep Brugada; Pedro Brugada; Ramon Brugada
Journal:  J Med Genet       Date:  2013-03-06       Impact factor: 6.318

Review 10.  Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation.

Authors:  D Corrado; G Fontaine; F I Marcus; W J McKenna; A Nava; G Thiene; T Wichter
Journal:  Circulation       Date:  2000-03-21       Impact factor: 29.690

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  7 in total

1.  Decreased mRNA levels of cardiac Cx43 and ZO1 in sudden cardiac death related to coronary atherosclerosis: a pilot study.

Authors:  Ye Xue; Rui Zhao; Si-Hao Du; Dong Zhao; Dong-Ri Li; Jing-Tao Xu; Xiao-Li Xie; Qi Wang
Journal:  Int J Legal Med       Date:  2016-03-14       Impact factor: 2.686

2.  Second opinion system for sudden cardiac death cases in forensic practice.

Authors:  Sara Sabatasso; Yara Banz; Rebekka Ringger; Silvia Visonà; Christian Schyma; Stephan Bolliger; Katarzyna Michaud
Journal:  Int J Legal Med       Date:  2020-01-08       Impact factor: 2.686

3.  Chronic poly-drug administration damages adult mouse brain neural stem cells.

Authors:  Erica L McGrath; Caitlin R Schlagal; Ibdanelo Cortez; Tiffany J Dunn; Junling Gao; Robert G Fox; Sonja J Stutz; Yong-Fang Kuo; Jonathan D Hommel; Kelly T Dineley; Kathryn A Cunningham; Bhupendra S Kaphalia; Ping Wu
Journal:  Brain Res       Date:  2019-08-29       Impact factor: 3.610

Review 4.  Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Clin Med Insights Cardiol       Date:  2016-10-19

5.  Blood alcohol levels in Finnish victims of non-ischaemic sudden cardiac death.

Authors:  Janna P Kauppila; Lasse Pakanen; Katja Porvari; Juha Vähätalo; Lauri Holmström; Juha S Perkiömäki; Heikki V Huikuri; M Juhani Junttila
Journal:  Ann Med       Date:  2021-12       Impact factor: 4.709

6.  Causes of Death and Survival in Alcoholic Cirrhosis Patients Undergoing Liver Transplantation: Influence of the Patient's Clinical Variables and Transplant Outcome Complications.

Authors:  J M Bolarín; M D Pérez-Cárceles; J P Hernández Del Rincón; A Luna; A Minguela; M Muro; I Legaz
Journal:  Diagnostics (Basel)       Date:  2021-05-27

Review 7.  Sudden cardiac death owing to arrhythmogenic right ventricular cardiomyopathy: Two case reports and systematic literature review.

Authors:  Jiao Mu; Guohui Zhang; Dazhong Xue; Mengrou Xi; Jiarui Qi; Hongmei Dong
Journal:  Medicine (Baltimore)       Date:  2017-11       Impact factor: 1.817

  7 in total

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