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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...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society of Internal Medicine
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602824/ https://www.ncbi.nlm.nih.gov/pubmed/36792195 http://dx.doi.org/10.2169/internalmedicine.0992-22 |
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author | 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 |
author_facet | 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 |
author_sort | Takegami, Naoki |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10602824 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-106028242023-10-28 The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation 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 Intern Med Case Report 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. The Japanese Society of Internal Medicine 2023-02-15 2023-10-01 /pmc/articles/PMC10602824/ /pubmed/36792195 http://dx.doi.org/10.2169/internalmedicine.0992-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report 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 The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation |
title | The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo
DES p.R406W Mutation |
title_full | The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo
DES p.R406W Mutation |
title_fullStr | The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo
DES p.R406W Mutation |
title_full_unstemmed | The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo
DES p.R406W Mutation |
title_short | The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo
DES p.R406W Mutation |
title_sort | myocardial accumulation of aggregated desmin protein in a case of desminopathy with a de novo
des p.r406w mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602824/ https://www.ncbi.nlm.nih.gov/pubmed/36792195 http://dx.doi.org/10.2169/internalmedicine.0992-22 |
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