Literature DB >> 15166777

Postmortem molecular analysis in victims of sudden unexplained death.

Marco Di Paolo1, Duccio Luchini, Raffaella Bloise, Silvia G Priori.   

Abstract

Among several conditions that can be responsible for sudden cardiac death (SCD), an important role is played by long QT syndrome (LQTS). LQTS is a congenital electric heart disease that can be asymptomatic or have very severe clinical manifestation, leading to cardiac arrest. In fact, the first manifestation of LQTS can be hyperkinetic ventricular arrhythmias. The presence of LQTS should be considered in all cases of SCD where autopsy is negative for anatomic and histopathological findings. In these cases, after an accurate anamnesis, a genetic screening should always be performed. The screening on LQTS genes is performed on DNA extracted from paraffin-embedded tissues. Making a proper diagnosis in such cases can help to find new affected subjects among the family members of SCD victims and treat them. In these cases, if the pathologist does not make a correct diagnosis, can he or she be sued for malpractice?

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15166777     DOI: 10.1097/01.paf.0000127406.20447.8a

Source DB:  PubMed          Journal:  Am J Forensic Med Pathol        ISSN: 0195-7910            Impact factor:   0.921


  10 in total

1.  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

2.  Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Authors:  David J Tester; Argelia Medeiros-Domingo; Melissa L Will; Carla M Haglund; Michael J Ackerman
Journal:  Mayo Clin Proc       Date:  2012-06       Impact factor: 7.616

Review 3.  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

4.  DNA and RNA analysis of blood and muscle from bodies with variable postmortem intervals.

Authors:  Jakob Hansen; Iana Lesnikova; Anette Mariane Daa Funder; Jytte Banner
Journal:  Forensic Sci Med Pathol       Date:  2014-06-10       Impact factor: 2.007

5.  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

6.  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

Review 7.  State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young.

Authors:  Michael J Ackerman
Journal:  Pacing Clin Electrophysiol       Date:  2009-07       Impact factor: 1.976

Review 8.  Sudden adult death.

Authors:  Neil E I Langlois
Journal:  Forensic Sci Med Pathol       Date:  2009-07-18       Impact factor: 2.007

9.  The Postmortem Interpretation of Cardiac Genetic Variants of Unknown Significance in Sudden Death in the Young: A Case Report and Review of the Literature.

Authors:  Saleh Fadel; Alfredo E Walker
Journal:  Acad Forensic Pathol       Date:  2021-03-17

Review 10.  Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.

Authors:  Najim Lahrouchi; Elijah R Behr; Connie R Bezzina
Journal:  Front Cardiovasc Med       Date:  2016-05-30
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.