Vassalini Marzia, Verzeletti Andrea, Restori Mario, De Ferrari Francesco
Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, Section of Public Health and Human Sciences, Forensic Medicine Unit, University of Brescia, Brescia, Italy.
J Cardiovasc Med (Hagerstown). 2016 Jun;17(6):446-53. doi: 10.2459/JCM.0000000000000234.
Sudden cardiac death (SCD), above all when occurring in young people, remains a major clinical problem. We have analysed the clinical and post mortem findings of patients who were evaluated for SCD.
We have analysed 54 cases of SCD which occurred in patients aged below 40 years during the period 1993-2012 and were studied at the Institute of Forensic Medicine of Brescia. The following variables were considered: sex, age, medical history, autopsy findings with special reference to macroscopic and histological evaluation of the heart and toxicological investigation. In all cases, we also performed the dissection of the cardiac conduction tissue with subsequent serial sampling and careful microscopic evaluation.Most SCD patients were men (76%), with a mean age of 27 years. The results of post mortem investigations have identified the following abnormalities: coronary artery disease (18.5%), arrhythmogenic right ventricular dysplasia (11.1%), hypertrophic obstructive cardiomyopathy (9.2%), severe valvular heart disease (7.4%) and myocarditis (7.4%). A case of persistence of the inter-atrial communication with cardiomegaly and right and left ventricular hypertrophy was also reported. Examination of the cardiac conduction tissue showed abnormalities in 12 cases (22.2%), in whom the heart was structurally normal at macroscopic examination. Despite all the investigations carried out, any pathogenic substrate that could have justified death was not found in 12 cases (22.2%).
Our study underlines the value of an accurate routine post mortem investigation that may show an otherwise unsuspected structural heart disease. The serial study of the conduction tissue may provide pathologic substrates that may be responsible for the arrhythmic cause of death. A meaningful percentage of cases (22%) had no evidence of any abnormality. Genetic testing can be indicated in these cases.
心脏性猝死（SCD），尤其是发生在年轻人身上时，仍然是一个主要的临床问题。我们分析了因SCD接受评估的患者的临床和尸检结果。
我们分析了1993年至2012年期间在布雷西亚法医学研究所研究的54例40岁以下患者发生的SCD病例。考虑了以下变量：性别、年龄、病史、尸检结果，特别提及心脏的宏观和组织学评估以及毒理学调查。在所有病例中，我们还对心脏传导组织进行了解剖，随后进行连续采样并仔细进行显微镜评估。大多数SCD患者为男性（76%），平均年龄27岁。尸检调查结果确定了以下异常情况：冠状动脉疾病（18.5%）、致心律失常性右心室发育不良（11.1%）、肥厚性梗阻性心肌病（9.2%）、严重瓣膜性心脏病（7.4%）和心肌炎（7.4%）。还报告了1例伴有心脏肥大以及左右心室肥厚的房间隔交通持续存在的病例。对心脏传导组织的检查显示12例（22.2%）存在异常，这些病例在宏观检查中心脏结构正常。尽管进行了所有调查，但在12例（22.2%）病例中未发现任何可解释死亡原因的致病底物。
我们的研究强调了准确的常规尸检调查的价值，该调查可能显示出原本未被怀疑的结构性心脏病。对传导组织的连续研究可能提供可能导致心律失常性死亡原因的病理底物。相当比例（22%）的病例没有任何异常证据。在这些病例中可考虑进行基因检测。
