Literature DB >> 20535491

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

Katarzyna Michaud1, Patrice Mangin, Bernice S Elger.   

Abstract

Autopsy-negative sudden cardiac deaths (SCD) seen in forensic practice are most often thought to be the result of sudden arrhythmic death syndrome. Postmortem genetic analysis is recommended in such cases, but is currently performed in only a few academic centers. In order to determine actual current practice, an on-line questionnaire was sent by e-mail to members of various forensic medical associations. The questions addressed routine procedures employed in cases of sudden cardiac death (autopsy ordering, macroscopic and microscopic cardiac examination, conduction tissue examination, immunohistochemistry and electron microscopy, biochemical markers, sampling and storage of material for genetic analyses, toxicological analyses, and molecular autopsy). Some questions concerned the legal and ethical aspects of genetic analyses in postmortem examinations, as well as any existing multidisciplinary collaborations in SCD cases. There were 97 respondents, mostly from European countries. Genetic testing in cases of sudden cardiac death is rarely practiced in routine forensic investigation. Approximately 60% of respondents reported not having the means to perform genetic postmortem testing and 40% do not collect adequate material to perform these investigations at a later date, despite working at university hospitals. The survey demonstrated that many of the problems involved in the adequate investigation of SCD cases are often financial in origin, due to the fact that activities in forensic medicine are often paid by and dependent on the judicial authorities. Problems also exist concerning the contact with family members and/or the family doctor, as well as the often-nonexistent collaboration with others clinicians with special expertise beneficial in the investigation of SCD cases, such as cardiologists and geneticists. This study highlights the importance in establishing guidelines for molecular autopsies in forensic medicine.

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Year:  2010        PMID: 20535491     DOI: 10.1007/s00414-010-0474-0

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


  19 in total

1.  Harmonization of medico-legal autopsy rules. Committee of Ministers. Council of Europe.

Authors:  B Brinkmann
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2.  When information can save lives: the duty to warn relatives about sudden cardiac death and environmental risks.

Authors:  Bernice Elger; Katarzyna Michaud; Patrice Mangin
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Review 3.  Genetic testing for cardiac channelopathies: ten questions regarding clinical considerations for heart rhythm allied professionals.

Authors:  David J Tester; Michael J Ackerman
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Review 4.  Guidelines for autopsy investigation of sudden cardiac death.

Authors:  Cristina Basso; Margaret Burke; Paul Fornes; Patrick J Gallagher; Rosa Henriques de Gouveia; Mary Sheppard; Gaetano Thiene; Allard van der Wal
Journal:  Virchows Arch       Date:  2007-10-20       Impact factor: 4.064

5.  Online survey of current autopsy practice.

Authors:  M J P Biggs; L J R Brown; P N Furness
Journal:  J Clin Pathol       Date:  2009-01-21       Impact factor: 3.411

Review 6.  Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies.

Authors:  Silvia G Priori; Carlo Napolitano
Journal:  Circulation       Date:  2006-02-28       Impact factor: 29.690

7.  Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death.

Authors:  E R Behr; A Casey; M Sheppard; M Wright; T J Bowker; M J Davies; W J McKenna; D A Wood
Journal:  Heart       Date:  2007-01-19       Impact factor: 5.994

Review 8.  Advances in the prevention of sudden cardiac death in the young.

Authors:  Rhian Shephard; Christopher Semsarian
Journal:  Ther Adv Cardiovasc Dis       Date:  2009-01-14

Review 9.  Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children.

Authors:  David J Tester; Michael J Ackerman
Journal:  Annu Rev Med       Date:  2009       Impact factor: 13.739

10.  Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture.

Authors:  M Klintschar; U Bilkenroth; M Arslan-Kirchner; J Schmidtke; D Stiller
Journal:  Int J Legal Med       Date:  2008-10-17       Impact factor: 2.686

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  13 in total

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

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Journal:  Int J Legal Med       Date:  2014-11-16       Impact factor: 2.686

2.  Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues.

Authors:  Audrey Farrugia; Christine Keyser; Bertrand Ludes
Journal:  Int J Legal Med       Date:  2012-03-09       Impact factor: 2.686

3.  Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications.

Authors:  Cristian D'Ovidio; Aldo Carnevale; Vincenzo M Grassi; Enrica Rosato; Bernat Del Olmo; Monica Coll; Oscar Campuzano; Anna Iglesias; Ramon Brugada; Antonio Oliva
Journal:  Forensic Sci Med Pathol       Date:  2017-04-13       Impact factor: 2.007

4.  Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.

Authors:  Catarina Allegue; Rocio Gil; Alejandro Blanco-Verea; Montserrat Santori; Marisol Rodríguez-Calvo; Luis Concheiro; Angel Carracedo; María Brion
Journal:  Int J Legal Med       Date:  2011-04-16       Impact factor: 2.686

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

Review 6.  Medico-legal perspectives on sudden cardiac death in young athletes.

Authors:  Antonio Oliva; Vincenzo M Grassi; Oscar Campuzano; Maria Brion; Vincenzo Arena; Sara Partemi; Monica Coll; Vincenzo L Pascali; Josep Brugada; Angel Carracedo; Ramon Brugada
Journal:  Int J Legal Med       Date:  2016-09-21       Impact factor: 2.686

7.  Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.

Authors:  M K Larsen; K E Berge; T P Leren; P H Nissen; J Hansen; I B Kristensen; J Banner; H K Jensen
Journal:  Int J Legal Med       Date:  2012-01-06       Impact factor: 2.686

8.  Differences in investigations of sudden unexpected deaths in young people in a nationwide setting.

Authors:  Bo Gregers Winkel; Anders Gaarsdal Holst; Juliane Theilade; Ingrid Bayer Kristensen; Jørgen Lange Thomsen; Hans Petter Hougen; Henning Bundgaard; Jesper Hastrup Svendsen; Stig Haunsø; Jacob Tfelt-Hansen
Journal:  Int J Legal Med       Date:  2011-07-21       Impact factor: 2.686

9.  An updated approach to sudden cardiac death, the AECVP perspective.

Authors:  Katarzyna Michaud; Allard C van der Wal; Jytte Banner; Mary N Sheppard; Cristina Basso
Journal:  Int J Legal Med       Date:  2021-03-18       Impact factor: 2.686

10.  Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.

Authors:  Fanny Hofer; Florence Fellmann; Jürg Schläpfer; Katarzyna Michaud
Journal:  BMC Cardiovasc Disord       Date:  2014-10-07       Impact factor: 2.298

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