title: Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications.
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.
authors.affiliation: Section of Legal Medicine, Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy.
authors.forename: Cristian
authors.initials: C
authors.lastname: D'Ovidio
authors.affiliation: Section of Legal Medicine, Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Carnevale
authors.affiliation: Institute of Public Health, Legal Medicine Section, Catholic University, School of Medicine, Largo Francesco Vito 1, 00168, Rome, Italy.
authors.forename: Vincenzo M
authors.initials: VM
authors.lastname: Grassi
authors.affiliation: Section of Legal Medicine, Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Rosato
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Bernat
authors.initials: B
authors.lastname: Del Olmo
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Monica
authors.initials: M
authors.lastname: Coll
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
authors.affiliation: Institute of Public Health, Legal Medicine Section, Catholic University, School of Medicine, Largo Francesco Vito 1, 00168, Rome, Italy. antonio.oliva@unicatt.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Oliva
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D025401:Echocardiography, Stress; D015716:Electrocardiography, Ambulatory; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel
keywords: Catecholaminergic polymorphic ventricular tachycardia; Provocation test; Rare variant; Stress electrocardiogram; Sudden cardiac death