PDF(Pubmed)
Abstract：
Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be \"silent\" even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide.
摘要：
调查心源性猝死（SCD）的原因总是很困难；事实上，即使在尸检调查期间，与SCD相关的遗传性心脏病也可能是“沉默的”。在这些情况下,重要的是排除其他病因并协助要求进行基因调查。在这里，这篇综述的目的是收集SCD中最有牵连的基因,并产生一个具有一线和二线研究适应症的小组.根据系统评价的首选报告项目（PRISMA）标准，对一般人群中可能导致SCD的遗传疾病进行了系统评价。随后，当尸检结果为阴性或没有获得性心脏病的证据时，我们列出了可能在心源性猝死情况下进行测试的基因。为了使基因检测更具体、更有效，这是有用的，并要求证实尸检结果与分子调查明显在小组提议。一线研究的基因是HCM，MYBPC3，MYH7，TNNT2，TNNI3，而在DCM的情况下，最牵连的基因是LMNA和TTN,在这些CDM的第二行中，可以研究ACTN2、TPM1、C1QPB。在ACM/ARVC的情况下，分子研究包括DSP，DSG2、DSC2、RYR2、PKP2。信道病与以下基因相关：SCN5A，KCNQ1、KCNH2、KCNE1、RYR2。我们的工作强调了基因检测在法医学和临床病理学中的重要性；此外，这不仅有助于帮助病理学家做出诊断，还可以防止后代家庭中的其他SCD病例，并标准化在全球类似病例中进行的分析类型。
