The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a <i>de novo DES</i> p.R406W Mutation
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- Takegami Naoki
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Mitsutake Akihiko
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Mano Tatsuo
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
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- Shintani-Domoto Yukako
- Department of Pathology, The University of Tokyo Hospital, Japan
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- Unuma Atsushi
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Yamaguchi-Takegami Nanaka
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Ishiura Hiroyuki
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Sakuishi Kaori
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Ando Masahiko
- Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo Hospital, Japan
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- Yamauchi Haruo
- Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo Hospital, Japan
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- Ono Minoru
- Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo Hospital, Japan
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- Morishita Shinichi
- Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan
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- Mitsui Jun
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Shimizu Jun
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
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- Tsuji Shoji
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan Institute of Medical Genomics, International University of Health and Welfare, Japan
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- Toda Tatsushi
- Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
抄録
<p>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. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 62 (19), 2883-2887, 2023-10-01
一般社団法人 日本内科学会