%0 Case Reports
%T The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.
%A Takegami N
%A Mitsutake A
%A Mano T
%A Shintani-Domoto Y
%A Unuma A
%A Yamaguchi-Takegami N
%A Ishiura H
%A Sakuishi K
%A Ando M
%A Yamauchi H
%A Ono M
%A Morishita S
%A Mitsui J
%A Shimizu J
%A Tsuji S
%A Toda T
%J Intern Med
%V 62
%N 19
%D Oct 2023 1
%M 36792195
%F 1.282
%R 10.2169/internalmedicine.0992-22
%X Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the desmin (DES) gene and represents a subgroup of myofibrillar myopathies, where cytoplasmic desmin-postive immunoreactivity is the pathological hallmark. We herein report a 28-year-old Japanese man who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block at 9 years old and developed weakness in the soft palate and extremities. The myocardial tissue dissected during implantation of the ventricular-assisted device showed a dilated phase of hypertrophic cardiomyopathy and intracellular accumulation of proteinase K-resistant desmin aggregates. Genetic testing confirmed a de novo mutation of DES, which has already been linked to desminopathy. As the molecular diagnosis of desminopathy is challenging, particularly if patients show predominantly cardiac signs and a routine skeletal muscle biopsy is unavailable, these characteristic pathological findings of endomyocardial proteinase K-resistant desmin aggregates might aid in clinical practice.