Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
Abstract Desmin‐related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyopathy. However, the clinical cardiac phenotypes of DRM...
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| Format: | Article |
| Language: | English |
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Wiley
2020-06-01
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| Series: | ESC Heart Failure |
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| Online Access: | https://doi.org/10.1002/ehf2.12667 |
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| author | Ran Tamiya Yuki Saito Daisuke Fukamachi Koichi Nagashima Yoshihiro Aizawa Kimie Ohkubo Takumi Hatta Akira Sezai Masashi Tanaka Taisuke Ishikawa Naomasa Makita Naokata Sumitomo Yasuo Okumura |
| author_facet | Ran Tamiya Yuki Saito Daisuke Fukamachi Koichi Nagashima Yoshihiro Aizawa Kimie Ohkubo Takumi Hatta Akira Sezai Masashi Tanaka Taisuke Ishikawa Naomasa Makita Naokata Sumitomo Yasuo Okumura |
| author_sort | Ran Tamiya |
| collection | DOAJ |
| description | Abstract Desmin‐related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyopathy. However, the clinical cardiac phenotypes of DRM are not yet fully understood. Herein, we report the first case of DRM with the de novo missense DES mutation, R454W, that is characterized by left ventricular non‐compaction cardiomyopathy, progressive cardiac conduction defect, spontaneous coronary artery dissection, and no skeletal muscle weakness. Our case findings suggest that clinicians should genetically test patients who have cardiomyopathy, progressive cardiac conduction defect, and coronary artery dissection, even if the patient has neither family history of DRM nor skeletal muscle symptoms. |
| format | Article |
| id | doaj-art-38d8bb99c15e4442981682f4942f54e1 |
| institution | Kabale University |
| issn | 2055-5822 |
| language | English |
| publishDate | 2020-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | ESC Heart Failure |
| spelling | doaj-art-38d8bb99c15e4442981682f4942f54e12025-02-03T10:25:46ZengWileyESC Heart Failure2055-58222020-06-01731338134310.1002/ehf2.12667Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissectionRan Tamiya0Yuki Saito1Daisuke Fukamachi2Koichi Nagashima3Yoshihiro Aizawa4Kimie Ohkubo5Takumi Hatta6Akira Sezai7Masashi Tanaka8Taisuke Ishikawa9Naomasa Makita10Naokata Sumitomo11Yasuo Okumura12Division of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanDepartment of Cardiovascular Surgery Nihon University School of Medicine Tokyo JapanDepartment of Cardiovascular Surgery Nihon University School of Medicine Tokyo JapanOmics Research Center, National Cerebral and Cardiovascular Center Suita JapanOmics Research Center, National Cerebral and Cardiovascular Center Suita JapanDepartment of Pediatric Cardiology Saitama Medical University International Medical Center Saitama JapanDivision of Cardiology, Department of Medicine Nihon University School of Medicine 30‐1 Ohyaguchi‐kamicho, Itabashi‐ku Tokyo 173‐8610 JapanAbstract Desmin‐related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyopathy. However, the clinical cardiac phenotypes of DRM are not yet fully understood. Herein, we report the first case of DRM with the de novo missense DES mutation, R454W, that is characterized by left ventricular non‐compaction cardiomyopathy, progressive cardiac conduction defect, spontaneous coronary artery dissection, and no skeletal muscle weakness. Our case findings suggest that clinicians should genetically test patients who have cardiomyopathy, progressive cardiac conduction defect, and coronary artery dissection, even if the patient has neither family history of DRM nor skeletal muscle symptoms.https://doi.org/10.1002/ehf2.12667Cardiomyopathycoronary artery dissectionheart failure |
| spellingShingle | Ran Tamiya Yuki Saito Daisuke Fukamachi Koichi Nagashima Yoshihiro Aizawa Kimie Ohkubo Takumi Hatta Akira Sezai Masashi Tanaka Taisuke Ishikawa Naomasa Makita Naokata Sumitomo Yasuo Okumura Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection ESC Heart Failure Cardiomyopathy coronary artery dissection heart failure |
| title | Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection |
| title_full | Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection |
| title_fullStr | Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection |
| title_full_unstemmed | Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection |
| title_short | Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection |
| title_sort | desmin related myopathy characterized by non compaction cardiomyopathy cardiac conduction defect and coronary artery dissection |
| topic | Cardiomyopathy coronary artery dissection heart failure |
| url | https://doi.org/10.1002/ehf2.12667 |
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