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.