University of Reims Champagne Ardennes, INSERM, UMR-S1320 Cardiovir, Reims, France.
Biology Institute of Paris-Seine (IBPS), Biological Adaptation and Ageing, Sorbonne University, UMR CNRS 8256, INSERM U1164, Paris, France.
BMC Cardiovasc Disord. 2024 May 29;24(1):282. doi: 10.1186/s12872-024-03913-z.
Sudden cardiac death (SCD) is a major public health issue worldwide. In the young (< 40 years of age), genetic cardiomyopathies and viral myocarditis, sometimes in combination, are the most frequent, but underestimated, causes of SCD. Molecular autopsy is essential for prevention. Several studies have shown an association between genetic cardiomyopathies and viral myocarditis, which is probably underestimated due to insufficient post-mortem investigations. We report on four autopsy cases illustrating the pathogenesis of these combined pathologies. In two cases, a genetic hypertrophic cardiomyopathy was diagnosed in combination with Herpes Virus Type 6 (HHV6) and/or Parvovirus-B19 (PVB19) in the heart. In the third case, autopsy revealed a dilated cardiomyopathy and virological analyses revealed acute myocarditis caused by three viruses: PVB19, HHV6 and Epstein-Barr virus. Genetic analyses revealed a mutation in the gene coding for desmin. The fourth case illustrated a channelopathy and a PVB19/HHV6 coinfection. Our four cases illustrate the highly probable deleterious role of cardiotropic viruses in the occurrence of SCD in subjects with genetic cardiomyopathies. We discuss the pathogenetic link between viral myocarditis and genetic cardiomyopathy. Molecular autopsy is essential in prevention of these SCD, and a close collaboration between cardiologists, pathologists, microbiologists and geneticians is mandatory.
心源性猝死(SCD)是全球范围内的一个主要公共卫生问题。在年轻人(<40 岁)中,遗传性心肌病和病毒性心肌炎,有时两者合并,是最常见但被低估的 SCD 原因。分子尸检对于预防至关重要。几项研究表明遗传性心肌病与病毒性心肌炎之间存在关联,但由于尸检后调查不足,这种关联可能被低估。我们报告了四个尸检病例,说明了这些合并病理的发病机制。在两个病例中,遗传性肥厚型心肌病与心脏中的 6 型疱疹病毒(HHV6)和/或细小病毒 B19(PVB19)联合诊断。在第三个病例中,尸检显示扩张型心肌病,病毒学分析显示三种病毒:PVB19、HHV6 和 Epstein-Barr 病毒引起的急性心肌炎。基因分析显示编码结蛋白的基因突变。第四个病例说明了通道病和 PVB19/ HHV6 合并感染。我们的四个病例说明了在遗传性心肌病患者中,心脏嗜性病毒极有可能在 SCD 的发生中起有害作用。我们讨论了病毒性心肌炎和遗传性心肌病之间的发病机制联系。分子尸检对于预防这些 SCD 至关重要,心脏病专家、病理学家、微生物学家和遗传学家之间的密切合作是必要的。