Leone Ornella, Agostini Valentina, Graziosi Maddalena, Rossi Cesare, Pelletti Guido, Foà Alberto, Guadagnini Gianni, Riefolo Mattia, Ziacchi Matteo, Fais Paolo, Pelotti Susi, Rapezzi Claudio, Seri Marco
Unità di Patologia Cardiovascolare e Trapiantologica Cardiaca, Dipartimento di Anatomia Patologica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna.
Istituto di Cardiologia, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna.
G Ital Cardiol (Rome). 2022 Mar;23(3):200-210. doi: 10.1714/3751.37339.
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).
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.
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%.
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.
2018年6月在博洛尼亚启动了艾米利亚-罗马涅青少年心脏性猝死（SCD）研究的多学科网络，目的是：（1）确定年轻人SCD的病因和机制范围；（ii）规范诊断术语和类别；（iii）识别潜在的遗传性心脏疾病，并确定尸检基因分析（所谓的分子尸检）在整个诊断过程中的作用；（iv）通过表型和基因型评估识别死者一级亲属中疾病的临床前形式，并在可能的情况下采取治疗/预防措施（一级预防）。
在活动的前两年（2018年6月1日至2020年8月27日），博洛尼亚圣奥索拉-马尔皮基综合医院心血管病理科关注到来自该地区大多数法医和病理解剖中心的50例SCD病例。
62%的病例由法医病理学家送来，36%由临床病理学家送来，2%由死者家属送来。70%的法医学病例是由司法当局要求的尸检引发的；病理学家转诊的患者中有55.5%来自心血管组织库，这是多器官-多组织供体器官和组织质量与安全控制区域项目的一部分。受试者的平均年龄为35±13.6岁（70%为男性，范围：1至55岁；中位数：38岁）。最终诊断范围包括：结构正常心脏14%，心肌病40%，冠心病23%，Brugada综合征6%，主动脉夹层4%，药物滥用6%，瓣膜性心脏病2%，混合病因2%。
该网络必然以尸检病理活动为中心，但不止于此。如果在60%的病例中病理尸检检查对确定死因起决定性作用，那么在其他病例中，只有通过涉及分子遗传学、临床遗传学和毒理学的更复杂途径才能得出详细的最终诊断。
