Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy.
Cardiovascular Pathology Unit, Department of Pathology, S.Orsola Hospital, Bologna, Italy.
Cardiovasc Pathol. 2020 Jan-Feb;44:107157. doi: 10.1016/j.carpath.2019.107157. Epub 2019 Oct 10.
An apparently healthy man died suddenly at the age of 49 during physical activity. The heart was referred to our Cardiovascular Pathology Unit for valve tissue banking. Pathology findings led to the diagnosis of arrhythmogenic left ventricular cardiomyopathy. Molecular autopsy was performed and two variants of interest were identified in genes associated with arrhythmogenic cardiomyopathy. The 19-year-old son underwent a cardiac screening comprehensive of electrocardiogram (ECG), echocardiogram, cardiac magnetic resonance and genetic testing, and the diagnosis of arrhythmogenic left ventricular cardiomyopathy was achieved. This case report highlights the need of a systematic evaluation of all sudden death victims with autopsy performed by expert cardiovascular pathologists and implemented by molecular analysis, aiming to identify also rare hereditary diseases and activate proper family screening.
一名看似健康的 49 岁男子在运动时突然猝死。该心脏被送往我们的心血管病理学部门进行瓣膜组织库存储。病理学检查结果提示心律失常性左心室心肌病的诊断。进行了分子尸检，并在与心律失常性心肌病相关的基因中发现了两个有意义的变体。19 岁的儿子接受了全面的心脏筛查，包括心电图（ECG）、超声心动图、心脏磁共振和基因检测，并确诊为心律失常性左心室心肌病。本病例报告强调了需要由专家心血管病理学家进行尸检，并通过分子分析进行系统评估所有猝死受害者的必要性，以发现罕见的遗传性疾病并激活适当的家族筛查。
