Liu Xuhan, Liu Yuan, Li Bo, Wang Lin, Zhang Weihua
Department of Cardiovascular Medicine, The First Hospital of Jilin University, Changchun, China.
Front Cardiovasc Med. 2022 Jul 25;9:944459. doi: 10.3389/fcvm.2022.944459. eCollection 2022.
Desmin myopathy is a novel desmin (DES) indel mutation that causes severe atypical cardiomyopathy as well as atrioventricular block and skeletal myopathy. The mutation of the gene of the nodal tail causes myocardial injury. Rarely does desmin myopathy cause bilateral ventricular changes.
We present a case of a 48-year-old man admitted with dyspnea and edema of both lower extremities. Due to bilateral lower limb weakness and calf muscle atrophy, gene sequencing was performed. The results showed that there was a pure missense mutation in the 8th exon region of the DES gene (c.1366G>A), encoding amino acid p.G456R (glycine>arginine). Supplementary examination suggests a high possibility of heart failure, atrial flutter, and desmin myopathy. Atrial flutter was treated by radiofrequency ablation. The clinical symptoms were stable after oral administration of rivaroxaban, coenzyme Q10, and ARNI.
In our case, mutation results are the gold standard for the diagnosis of nodular myopathy. Cardiac magnetic resonance can define the extent and degree of cardiomyopathy and quantitatively evaluate cardiac function. At present, there is a lack of specific treatment for proteolytic myopathy. Therefore, the treatment for heart failure proves effective. Due to the multiple systems involved, early diagnosis and multidisciplinary management are critical to improving patient outcomes.
结蛋白肌病是一种新型的结蛋白（DES）插入缺失突变，可导致严重的非典型心肌病以及房室传导阻滞和骨骼肌病。结蛋白尾部基因的突变会导致心肌损伤。结蛋白肌病很少引起双侧心室改变。
我们报告一例48岁男性患者，因呼吸困难和双下肢水肿入院。由于双侧下肢无力和小腿肌肉萎缩，进行了基因测序。结果显示，DES基因第8外显子区域存在一个纯错义突变（c.1366G>A），编码氨基酸p.G456R（甘氨酸>精氨酸）。辅助检查提示心力衰竭、心房扑动和结蛋白肌病的可能性很大。通过射频消融治疗心房扑动。口服利伐沙班、辅酶Q10和ARNI后临床症状稳定。
在我们的病例中，突变结果是诊断结节性肌病的金标准。心脏磁共振成像可以确定心肌病的范围和程度，并定量评估心脏功能。目前，对于蛋白水解性肌病缺乏特异性治疗方法。因此，针对心力衰竭的治疗证明是有效的。由于涉及多个系统，早期诊断和多学科管理对于改善患者预后至关重要。
