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首页> 外文期刊>Forensic science international >Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
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Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy

机译：疑似心肌病的年轻猝死者的分子尸检

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摘要

The aim of this investigation was to identify and characterise pathogenic mutations in a sudden cardiac death (SCD) cohort suspected of cardiomyopathy in persons aged 0-40 years.The study material for the genetic screening of cardiomyopathies consisted of 41 cases and was selected from the case database at the Institute of Forensic Medicine. Mutational screening by DNA sequencing was performed to detect mutations in DNA samples from deceased persons suspected of suffering from hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricle cardiomyopathy (ARVC).A total of 9 of the examined 41 cases had a rare sequence variant in the MYBPC3, MYH7, LMNA, PKP2 or TMEM43 genes, of which 4 cases (9.8%) were presumed to be pathogenic mutations. The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).The presented data adds important information on the genetic elements of SCD in the young, and calls for expert pathological evaluation and molecular autopsy in the post-mortem examination of SCD victims with structural anomalies of the heart.
机译：这项研究的目的是鉴定和表征0-40岁人群中疑似心肌病的心源性猝死（SCD）队列中的致病突变.41例心肌病的基因筛查研究材料选自法医研究所的病例数据库。通过DNA测序进行突变筛选，以检测怀疑患有肥厚型心肌病（HCM），扩张型心肌病（DCM）和心律失常的右心室心肌病（ARVC）的死者的DNA样本中的突变。在检查的41例病例中共有9例在MYBPC3，MYH7，LMNA，PKP2或TMEM43基因中具有罕见的序列变异，其中4例（9.8％）被认为是致病性突变。推测的致病性突变分布在1例疑似HCM和DCM（MYH7; p.R442H），1例疑似DCM（LMNA; p.R471H）和2例疑似ARVC（PKP2; p.R79X和LMNA; （p.R644C）。所提供的数据为年轻人中SCD的遗传成分提供了重要信息，并要求对心脏结构异常的SCD受害者进行死后检查时进行专家病理评估和分子尸检。

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