The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation

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 initia...

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Bibliographic Details
Published in:Internal Medicine 2023/10/01, Vol.62(19), pp.2883-2887
Main Authors: Takegami, Naoki, Mitsutake, Akihiko, Mano, Tatsuo, Shintani-Domoto, Yukako, Unuma, Atsushi, Yamaguchi-Takegami, Nanaka, Ishiura, Hiroyuki, Sakuishi, Kaori, Ando, Masahiko, Yamauchi, Haruo, Ono, Minoru, Morishita, Shinichi, Mitsui, Jun, Shimizu, Jun, Tsuji, Shoji, Toda, Tatsushi
Format: Article
Language:English
Subjects:
Biopsy
Cardiomyopathy
Case Report
Desmin
desminopathy
Endopeptidase K
Genetic screening
Immunoreactivity
Internal medicine
Mutation
myocardial biopsy
Myopathy
Palate
proteinase K-resistant desmin aggregation
Skeletal muscle
sporadic hypertrophic cardiomyopathy
Ventricle
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Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.0992-22