Introduction:
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.
Case presentation:
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.
Conclusion:
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.