Title |
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications
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Published in |
Forensic Science, Medicine and Pathology, April 2017
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DOI | 10.1007/s12024-017-9862-9 |
Pubmed ID | |
Authors |
Cristian D’Ovidio, Aldo Carnevale, Vincenzo M. Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva |
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. |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 40 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 20% |
Student > Bachelor | 4 | 10% |
Student > Master | 3 | 8% |
Student > Postgraduate | 2 | 5% |
Professor > Associate Professor | 2 | 5% |
Other | 6 | 15% |
Unknown | 15 | 38% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 6 | 15% |
Sports and Recreations | 4 | 10% |
Biochemistry, Genetics and Molecular Biology | 3 | 8% |
Social Sciences | 2 | 5% |
Agricultural and Biological Sciences | 1 | 3% |
Other | 6 | 15% |
Unknown | 18 | 45% |