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Catecholaminergic Polymorphic Ventricular Tachycardia Diagnosed Using Postmortem Next-Generation Sequencing: An Autopsy Case Report

Year: 2025
Type: article
Study design: Case Report
Abstract: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, inherited, arrhythmic syndrome that can lead to sudden cardiac death, particularly in children and adolescents, during physical or emotional stress. It typically presents as adrenergically mediated polymorphic or bidirectional ventricular tachycardia in otherwise structurally and histologically normal hearts. In many cases, conventional autopsies fail to reveal the definitive cause of death; as such, postmortem genetic testing is a valuable diagnostic alternative in such cases. The present report describes a case involving a 15-year-old boy who collapsed during outdoor physical activity and died despite prompt attempts at resuscitation. Autopsy findings were unremarkable. Postmortem next-generation sequencing, however, identified a pathogenic heterozygous RYR2 variant (c.7202G>T, p.Arg2401Leu) consistent with CPVT type 1. Genetic findings established the cause of death and supported the recommendation for cascade testing of biological relatives. Despite its benefits, postmortem genetic testing has not yet been implemented in routine forensic practice in South Korea. This case supports the integration of structured postmortem genetic testing and family counseling into modern death investigations, along with collaborative systems with clinical institutions to improve diagnostic certainty and preventive care.
DOI: 10.7580/kjlm.2025.49.3.88
Author: Junghye Lee
Language: English
Field: Medicine
Open Access status: diamond
OpenAlex ID: W4413897581
FWCI:
Cites: 8
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Related to: 10