Introduction

Sudden cardiac death (SCD) is defined as an unexpected death due to cardiac causes that occurs within a short time period, generally within one hour of symptom, or within 24 h of last being seen in good health for unwitnessed deaths [1]. It accounts for approximately 15–20% of all deaths in industrialized countries, with an estimated incidence of 1 in 100,000 individuals per year in young people under 35 years of age [2, 3]. SCD has a profound societal impact, particularly when occurring in individuals with no prior symptoms.

In the younger population, the etiological spectrum of SCD differs substantially from that observed in older adults. Inherited cardiac disorders, including cardiomyopathies (hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM)) and primary arrhythmia syndromes such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome, are frequently implicated [4, 5]. These conditions are often clinically silent and may lack definitive structural abnormalities at conventional autopsy, resulting in a significant proportion of inconclusive forensic investigations [6].

In this setting, post-mortem genetic testing has emerged as a critical adjunct to conventional forensic examination [2, 3, 7]. The identification of a pathogenic genetic variant may substantially modify the interpretation of the cause of death, particularly in cases initially attributed to external triggers such as physical exertion, emotional stress, or minor trauma, which may act as precipitating factors in genetically predisposed individuals [6, 8, 9]. Furthermore, because inherited cardiac diseases follow Mendelian patterns of transmission, genetic findings obtained post-mortem have direct implications for surviving relatives, enabling cascade screening, early diagnosis, and preventive interventions [5, 10]. Despite the increasing adoption of postmortem genetic testing, standardized protocols and their forensic implementation remain heterogeneous, and standardized protocols are still lacking. Ethical considerations, including genetic privacy, data management, and the appropriate communication of results, further complicate its implementation. Addressing these challenges requires standardized procedures, multidisciplinary collaboration, and continuous training of forensic professionals to ensure scientifically rigorous and ethically responsible use of genetic data.

Accordingly, the aim of this study was to evaluate the diagnostic yield and medico-legal impact of integrating systematic pathological examination with post-mortem genetic testing in a selected cohort of sudden unexpected deaths (SUD) investigated in a forensic setting, particularly in cases that were inconclusive after conventional autopsy or in which an inherited cardiac disorder was suspected.