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

Antonio Oliva, Vincenzo Maria Grassi, Cristian D’Ovidio, Aldo Carnevale, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

3 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)N/A-N/A/
RivistaForensic Sci Med Pathol.
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • genetics
  • sudden death

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