Sudden Cardiac Death in the Young: Single-center Study of Bari Autopsy Cases

Cecilia Salzillo^1*Marco Matteo Ciccone²Francesco Introna³Vincenzo Ezio SANTOBUONO²Biagio Solarino³Andrea Marzullo⁴

• ¹Department of Experimental Medicine, University of Campania Luigi Vanvitelli, Naples, Italy
• ²Interdesciplinary Department of Medicine, Cardiology Unit, University of Bari, Bari, Italy
• ³Interdesciplinary Department of Medicine, Legal Medicine Unit, University of Bari, Bari, Italy
• ⁴Department of Precision and Regenerative Medicine and Ionian Area, Pathology Unit, University of Bari “Aldo Moro”, Bari, Italy

Introduction. Sudden Cardiac Death (SCD) is one of the main causes of death in the world, with a significant impact especially on young people. Sudden Cardiac Death in the Young (SCDY) is characterized by multifactorial etiology, which includes cardiomyopathies, myocarditis, channelopathies, aortopathies and coronary artery diseases. Despite progress in prevention, a significant percentage of these deaths remain unexplained without a thorough autopsy. This study aims to SCDY cases registered between 2016 and 2024, exploring the association between type of autopsy, age, sex, causes of death and temporal changes. Methods. Data relating to subjects who died for suspected SCDY, who underwent forensic, or hospital autopsy were retrospectively analysed. Investigations included type of autopsy (diagnostic or judicial), age (in years), sex, available clinical data, gross and histological findings, and cause of death. The data were divided by age groups (0-10, 11-20, 21-30, 31-40 years), sex and cause of death (arrhythmias, congenital heart defects, myocarditis, vascular dissections and cardiomyopathies). The temporal distribution of cases was also evaluated. Results. A total of 62 cases were analysed, with a prevalence of male subjects (70%). Forensic autopsies (65%) were more frequent than diagnostic findings (35%). The most represented age groups were 11-20 years (30%) and 21-30 years (25%). Unknown arrhythmias were the main cause (40%), followed by congenital heart disease (20%) and cardiomyopathy (15%). Congenital heart defects prevailed in newborns and children, while hypertrophic or arrhythmogenic cardiomyopathies were more frequently observed in young adults. Temporally, there has been a progressive increase in molecular autopsies and genetic diagnoses, in particular after the introduction of the AECVP (2017) and SCVP (2023) guidelines. Discussion. The findings highlight the need for a multidisciplinary approach to diagnosis of SCDY, with particular emphasis on molecular autopsy to identify genetic causes. The male predominance and age-related etiological differences underline the importance of specific preventive strategies, such as genetic screening in newborns and victims' relatives. The increase in diagnoses over time reflects the effectiveness of updated guidelines, but it remains crucial to expand the mandatory nature of autopsies to improve understanding of the causes of SCDY and reduce the incidence of these tragic events.