Literature DB >> 20047134

Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

Katarzyna Michaud1, Florence Fellmann, Hugues Abriel, Jacques S Beckmann, Patrice Mangin, Bernice S Elger.   

Abstract

Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD. Post-mortem genetic testing, also called molecular autopsy, has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including arrhythmic disorders such as congenital long QT syndrome and Brugada syndrome. Due to the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counselling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. In this article we present a multidisciplinary collaboration established in Lausanne, with the goal of properly informing families of these pathologies and their implications for surviving family members. In Switzerland, as in many other countries, legal guidelines for genetic testing do not address the use of molecular tools for post-mortem genetic analyses in forensic practice. In this article we present the standard practice guidelines established by our multidisciplinary team.

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Mesh:

Year:  2009        PMID: 20047134     DOI: smw-12837

Source DB:  PubMed          Journal:  Swiss Med Wkly        ISSN: 0036-7672            Impact factor:   2.193


  13 in total

Review 1.  The molecular autopsy: should the evaluation continue after the funeral?

Authors:  David J Tester; Michael J Ackerman
Journal:  Pediatr Cardiol       Date:  2012-02-04       Impact factor: 1.655

2.  Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.

Authors:  Laura Jane Heathfield; Wenelisile Bhengu; Susan Louw; Lorna Jean Martin; Raj Ramesar
Journal:  Int J Legal Med       Date:  2020-06-18       Impact factor: 2.686

3.  Postmortem medicolegal genetic diagnostics also require reporting guidance.

Authors:  Antti Sajantila; Bruce Budowle
Journal:  Eur J Hum Genet       Date:  2014-12-03       Impact factor: 4.246

4.  Incidental findings in forensics: are we sure that it is a question easy to deal with?

Authors:  Luciana Caenazzo; Pamela Tozzo; Kris Dierickx
Journal:  Int J Legal Med       Date:  2020-09-15       Impact factor: 2.686

5.  Evaluation of autopsy and police reports in the investigation of sudden unexplained death in the young.

Authors:  Heath R Wilms; David J Midgley; Paul Morrow; Simon Stables; Jackie Crawford; Jonathan R Skinner
Journal:  Forensic Sci Med Pathol       Date:  2012-05-22       Impact factor: 2.007

6.  The molecular autopsy: an indispensable step following sudden cardiac death in the young?

Authors:  Nicole J Boczek; David J Tester; Michael J Ackerman
Journal:  Herzschrittmacherther Elektrophysiol       Date:  2012-09-20

Review 7.  Arrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biventricular disease.

Authors:  Ardan M Saguner; Corinna Brunckhorst; Firat Duru
Journal:  World J Cardiol       Date:  2014-04-26

8.  2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  Heart Rhythm       Date:  2020-10-19       Impact factor: 6.343

9.  Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.

Authors:  Jacqueline Neubauer; Cordula Haas; Christine Bartsch; Argelia Medeiros-Domingo; Wolfgang Berger
Journal:  Int J Legal Med       Date:  2016-02-04       Impact factor: 2.686

10.  2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  J Arrhythm       Date:  2021-04-08
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