Filamin C (FLNC) truncating mutation in a fatal arrhythmogenic left ventricular cardiomyopathy (ALVC)

IF 1.3 4区医学 Q3 MEDICINE, LEGAL

Legal Medicine Pub Date : 2024-03-26 DOI:10.1016/j.legalmed.2024.102438

Francesco Simonit , Ugo Da Broi , Angela Valentina D'Elia , Dora Fabbro , Catia Mio , Rossana Bussani , Maurizio Pinamonti , Lorenzo Desinan

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引用次数: 0

Abstract

Forensic pathologists are frequently asked to investigate cases of sudden death (SD), and identifying the cause of death can be of particular importance, especially where it may be necessary to perform family screening among the relatives of the victim. A multidisciplinary approach inclusive of genetic analysis is therefore strongly recommended.

According to forensic practice, arrhythmogenic cardiomyopathy (ACM) is a well-known cause of SD. However, cases of SD caused by a left ventricular pattern of ACM diagnosed at autopsy are rarely reported in the literature.

We present the case of an apparently healthy, 37-year-old male found dead at his home. At autopsy, multiple foci of epicardial and mid-wall fibrous and fibro-adipose tissue were observed within the left ventricle and, to a lesser extent, within the interventricular septum. Toxicology was negative, whereas a filamin C truncating mutation was detected through genetic analysis.

To our knowledge, this is the first instance of arrhythmogenic left ventricular cardiomyopathy being diagnosed at autopsy.

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致命性致心律失常性左心室心肌病 (ALVC) 中的纤溶酶原 C (FLNC) 截断突变

法医病理学家经常被要求调查猝死（SD）病例，确定死因尤为重要，尤其是在有必要对受害者亲属进行家族筛查的情况下。因此，强烈建议采用包括基因分析在内的多学科方法。根据法医实践，心律失常性心肌病（ACM）是导致 SD 的众所周知的原因。然而，在尸检中被诊断为左心室型 ACM 而导致 SD 的病例在文献中却鲜有报道。我们介绍了一例被发现死于家中、表面健康的 37 岁男性病例。尸检时，在左心室内观察到多个心外膜和室壁中层纤维组织和纤维脂肪组织病灶，其次是室间隔。据我们所知，这是第一例在尸检时诊断出心律失常性左心室心肌病的病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Legal Medicine Nursing-Issues, Ethics and Legal Aspects

CiteScore

2.80

自引率

6.70%

发文量

119

审稿时长

7.9 weeks

期刊介绍： Legal Medicine provides an international forum for the publication of original articles, reviews and correspondence on subjects that cover practical and theoretical areas of interest relating to the wide range of legal medicine. Subjects covered include forensic pathology, toxicology, odontology, anthropology, criminalistics, immunochemistry, hemogenetics and forensic aspects of biological science with emphasis on DNA analysis and molecular biology. Submissions dealing with medicolegal problems such as malpractice, insurance, child abuse or ethics in medical practice are also acceptable.