Literature DB >> 30044475

Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.

Argelia Medeiros Domingo1, Stephan Bolliger2, Christoph Gräni3, Claudine Rieubland4, Deborah Hersch5, Babken Asatryan1, Christian Schyma6, Ardan Saguner7, Daniel Wyler8, Zahir Bhuiyan5, Florence Fellman5, Antonio Marco Osculati9, Rebekka Ringger6, Siv Fokstuen10, Sara Sabatasso11, Matthias Wilhelm1, Katarzyna Michaud12.   

Abstract

There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person's privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.

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Year:  2018        PMID: 30044475     DOI: 10.4414/smw.2018.14638

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


  6 in total

1.  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

2.  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

3.  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

4.  Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.

Authors:  Mercedes Iglesias; Tomas Ripoll-Vera; Consuelo Perez-Luengo; Ana Belen García; Susana Moyano; Juan Carlos Canos; Juan Carlos Borondo; Jorge Alvarez; Damian Heine-Suñer; Bernardino Barcelo
Journal:  J Clin Med       Date:  2021-04-21       Impact factor: 4.241

5.  Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.

Authors:  Dragan Primorac; Ljubica Odak; Vitorio Perić; Jasmina Ćatić; Jozica Šikić; Vjekoslav Radeljić; Šime Manola; Robert Nussbaum; Matteo Vatta; Swaroop Aradhya; Tanja Sofrenović; Vid Matišić; Vilim Molnar; Andrea Skelin; Jure Mirat; Johannes Brachmann
Journal:  Front Med (Lausanne)       Date:  2021-03-22

6.  Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.

Authors:  Jacqueline Neubauer; Shouyu Wang; Giancarlo Russo; Cordula Haas
Journal:  Int J Legal Med       Date:  2021-04-25       Impact factor: 2.686

  6 in total

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