Sudden cardiac death in young people and in adults: Primary and contributing causes. The experience of the multidisciplinary network in Emilia-Romagna

Background. The multidisciplinary network of Emilia-Romagna for the study of juvenile sudden cardiac death (SCD) was started in Bologna in June 2018 in order to: (1) define the spectrum of etiologies and mechanisms of SCD in young people; (ii) standardize diagnostic terminology and categories; (iii) identify potentially hereditary genetic heart diseases and define the contribution of post-mortem genetic analysis (so-called molecular autopsy) to the overall diagnostic process; (iv) identify preclinical forms of the pathologies in the first-degree relatives of the deceased subject using both phenotypic and genotypic evaluation and, where possible, undertake therapeutic/prophylactic measures (primary prevention). Methods. In the first 2 years of activity (01/06/2018–27/08/2020) 50 cases of SCD came to the attention of the Cardiovascular Pathology Unit of the S. Orsola-Malpighi Polyclinic in Bologna, from Centres of Forensic Medicine and Pathological Anatomy in most of the region. Results. Sixty-two percent of cases were sent by forensic pathologists, 36% by clinical pathologists and 2% by the family of the deceased. Medico-legal cases were prompted by autopsies requested by the Judicial Authority in 70% of cases; 55.5% of patients referred by pathologists came from the Cardiovascular Tissue Bank, as part of the regional program for the quality and safety control of organs and tissues from multiorgan-multitissue donors. The average age of the subjects was 35 ± 13.6 years (70% male, range: 1-55 years; median: 38 years). The spectrum of the final diagnoses includes: structurally normal hearts 14%, cardiomyopathies 40%, coronary heart disease 23%, Brugada syndrome 6%, aortic dissection 4%, substance abuse 6%, valvular heart disease 2%, mixed causes 2%. Conclusions. The network is necessarily centered on post-mortem pathological activities, but it does not end with these. If in 60% of cases the pathological autopsy examination was decisive in identifying the cause of death, in the other cases a detailed final diagnosis was reached only with more complex pathways involving molecular genetics, clinical genetics, and toxicology.