Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant
Abstract TNNI3 is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.5...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00272-1 |
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| _version_ | 1832594940180299776 |
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| author | Natsuko Inagaki Tomoya Okano Masatake Kobayashi Masatsune Fujii Yoshinao Yazaki Yasuyoshi Takei Hisanori Kosuge Shinji Suzuki Takeharu Hayashi Masahiko Kuroda Kazuhiro Satomi |
| author_facet | Natsuko Inagaki Tomoya Okano Masatake Kobayashi Masatsune Fujii Yoshinao Yazaki Yasuyoshi Takei Hisanori Kosuge Shinji Suzuki Takeharu Hayashi Masahiko Kuroda Kazuhiro Satomi |
| author_sort | Natsuko Inagaki |
| collection | DOAJ |
| description | Abstract TNNI3 is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.583A>T (p.Ile195Phe), which was determined to be the pathogenic variant. The patient exhibited progressive myocardial fibrosis, left ventricular remodeling, and life-threatening arrhythmias. Genetic testing within families is useful for risk stratification in pediatric HCM patients. |
| format | Article |
| id | doaj-art-e20a70276a7444f1912d67510530a6d5 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-e20a70276a7444f1912d67510530a6d52025-01-19T12:15:54ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111410.1038/s41439-024-00272-1Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variantNatsuko Inagaki0Tomoya Okano1Masatake Kobayashi2Masatsune Fujii3Yoshinao Yazaki4Yasuyoshi Takei5Hisanori Kosuge6Shinji Suzuki7Takeharu Hayashi8Masahiko Kuroda9Kazuhiro Satomi10Department of Cardiology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical UniversityDepartment of Physiology, Tokai University School of MedicineDepartment of Molecular Pathology, Tokyo Medical UniversityDepartment of Cardiology, Tokyo Medical UniversityAbstract TNNI3 is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.583A>T (p.Ile195Phe), which was determined to be the pathogenic variant. The patient exhibited progressive myocardial fibrosis, left ventricular remodeling, and life-threatening arrhythmias. Genetic testing within families is useful for risk stratification in pediatric HCM patients.https://doi.org/10.1038/s41439-024-00272-1 |
| spellingShingle | Natsuko Inagaki Tomoya Okano Masatake Kobayashi Masatsune Fujii Yoshinao Yazaki Yasuyoshi Takei Hisanori Kosuge Shinji Suzuki Takeharu Hayashi Masahiko Kuroda Kazuhiro Satomi Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant Human Genome Variation |
| title | Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant |
| title_full | Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant |
| title_fullStr | Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant |
| title_full_unstemmed | Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant |
| title_short | Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant |
| title_sort | pediatric hypertrophic cardiomyopathy caused by a novel tnni3 variant |
| url | https://doi.org/10.1038/s41439-024-00272-1 |
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