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Forensic Science, Medicine, and Pathology

, Volume 13, Issue 2, pp 217–225 | Cite as

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

  • Cristian D’Ovidio
  • Aldo Carnevale
  • Vincenzo M. Grassi
  • Enrica Rosato
  • Bernat Del Olmo
  • Monica Coll
  • Oscar Campuzano
  • Anna Iglesias
  • Ramon Brugada
  • Antonio OlivaEmail author
Case Report

Abstract

This paper discusses the case of a young boy who died suddenly during a football match. The victim’s personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia. It was possible to detect a novel, previously undescribed, variant in the RYR2 gene. This case report highlights the importance of a meaningful forensic multidisciplinary investigation in such cases, and also discusses possible medical malpractice claims.

Keywords

Catecholaminergic polymorphic ventricular tachycardia Rare variant Sudden cardiac death Stress electrocardiogram Provocation test 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Human and animal studies

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Oral informed consent was obtained from the family of the victim.

Declaration of interest

The Authors declare no sources of funding, direct or indirect, and any connection of any of the researchers with the tobacco, alcohol, pharmaceutical or gaming industries or anybody substantially funded by one of these organizations. The Authors declare also that there are no contractual constraints on publishing imposed by any funder.

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Cristian D’Ovidio
    • 1
  • Aldo Carnevale
    • 1
  • Vincenzo M. Grassi
    • 2
  • Enrica Rosato
    • 1
  • Bernat Del Olmo
    • 3
  • Monica Coll
    • 3
  • Oscar Campuzano
    • 3
  • Anna Iglesias
    • 3
  • Ramon Brugada
    • 3
  • Antonio Oliva
    • 2
    Email author
  1. 1.Section of Legal Medicine, Department of Medicine and Aging Sciences‘G. d’Annunzio’ University of Chieti-PescaraChietiItaly
  2. 2.Institute of Public Health, Legal Medicine SectionCatholic University, School of MedicineRomeItaly
  3. 3.Cardiovascular Genetics CentreUniversity of Girona-IDIBGIGironaSpain

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