V.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia.
Department of Pathophysiology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia.
Genes (Basel). 2023 Jun 24;14(7):1332. doi: 10.3390/genes14071332.
A 60-year-old male with hypertrophic cardiomyopathy, conduction disorders, post-COVID-19 myopericarditis and heart failure was admitted to the hospital's cardiology department. Blood tests revealed an increase in CPK activity, troponin T elevation and high titers of anticardiac antibodies. Whole exome sequencing showed the presence of the pathogenic variant NM_213599:c.2272C>T of the gene. Results of the skeletal muscle biopsy excluded the diagnosis of systemic amyloidosis. Microscopy of the muscle fragment demonstrated sclerosis of the perimysium, moderate lymphoid infiltration, sclerosis of the microvessels, dystrophic changes and a lack of cross striations in the muscle fibers. Hypertrophy of the LV with a low contractile ability, atrial fibrillation, weakness of the distal skeletal muscles and increased plasma CPK activity and the results of the skeletal muscle biopsy suggested a diagnosis of a late form of distal myopathy (Miyoshi-like distal myopathy, MMD3). Post-COVID-19 myopericarditis, for which genetically modified myocardium could serve as a favorable background, caused heart failure decompensation.
一位 60 岁男性,患有肥厚型心肌病、传导障碍、新冠病毒感染后心肌心包炎和心力衰竭,因上述疾病入住心内科。血液检查显示肌酸激酶(CPK)活性升高、肌钙蛋白 T 升高和心肌抗体滴度高。全外显子组测序显示基因的致病性变异 NM_213599:c.2272C>T 存在。骨骼肌活检结果排除了系统性淀粉样变性的诊断。肌肉片段显微镜检查显示肌周膜硬化、中度淋巴细胞浸润、微血管硬化、肌肉纤维的营养不良性改变和横纹消失。左心室肥厚伴收缩能力降低、心房颤动、远端骨骼肌无力和血浆 CPK 活性升高以及骨骼肌活检结果提示存在迟发性远端肌病(类似 Miyoshi 的远端肌病,MMD3)。新冠病毒感染后心肌心包炎,其基因修饰的心肌可能作为有利的背景,导致心力衰竭失代偿。