PDF(Pubmed)
Abstract：
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased\'s family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.
摘要：
致心律失常性右心室心肌病（ARVC）是一种遗传性疾病，其特征是右心室心肌进行性纤维脂肪置换，导致心肌萎缩.尽管结构变化通常会影响右心室，病理也可能表现为孤立的左心室心肌或双心室受累。由于ARVC显示出常染色体显性遗传模式，具有可变的外显率，这种疾病的临床表现是高度异质性的，即使在具有相同基因突变的同一熟悉组的患者中，心肌受累的严重程度和模式也不同：病理范围从无症状到室性心律失常持续的心源性猝死（SCD），可能，在某些情况下,是原本沉默的病理学的第一个表现。对文献进行了基于证据的系统回顾，以评估诊断技术的最新水平，以正确进行ARVC的死后鉴定。这项研究是使用电子数据库PubMed和Scopus进行的。描述了一种方法学方法，可以对ARVC进行正确的验尸诊断，分析了主要的验尸奇特的宏观，微观和放射学改变。此外,强调了进行验尸基因测试的重要性，这可能导致疾病的正确识别和表征，尤其是在解剖病理学研究未显示明显形态结构损伤的ARVC形式中。此外，基因检测的有用性不仅限于病理的正确诊断，但对于向死者家属推广有针对性的筛查计划至关重要。如今,法医病理学家对ARVC进行的验尸诊断仍然非常具有挑战性:因此，明确的方法学方法的确定可能会导致诊断不足的减少和对疾病知识的提高。
