Hypertrophic Cardiomyopathy: Genes and Mechanisms
Hypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TN...
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| Format: | Article |
| Language: | English |
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IMR Press
2025-02-01
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| Series: | Frontiers in Bioscience-Landmark |
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| Online Access: | https://www.imrpress.com/journal/FBL/30/2/10.31083/FBL25714 |
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| author | Jinli Chen Yang Xing Jie Sun Yongming Liu Zekun Lang Lei Zhang Jinggang Yang |
| author_facet | Jinli Chen Yang Xing Jie Sun Yongming Liu Zekun Lang Lei Zhang Jinggang Yang |
| author_sort | Jinli Chen |
| collection | DOAJ |
| description | Hypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TNNT2, and MYBPC3. These mutations are usually inherited autosomal dominantly. Approximately 30–60% of HCM patients have a family history of similar cases among their immediate relatives. This underscores the significance of genetic factors in the development of HCM. Therefore, we summarized the gene mutation mechanisms associated with the onset of HCM and potential treatment directions. We aim to improve patient outcomes by increasing doctors’ awareness of genetic counseling, early diagnosis, and identification of asymptomatic patients. Additionally, we offer valuable insights for future research directions, as well as for early diagnosis and intervention. |
| format | Article |
| id | doaj-art-80d04a7335eb4af2af35754add4ae0ca |
| institution | DOAJ |
| issn | 2768-6701 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Frontiers in Bioscience-Landmark |
| spelling | doaj-art-80d04a7335eb4af2af35754add4ae0ca2025-08-20T03:04:43ZengIMR PressFrontiers in Bioscience-Landmark2768-67012025-02-013022571410.31083/FBL25714S2768-6701(24)01496-5Hypertrophic Cardiomyopathy: Genes and MechanismsJinli Chen0Yang Xing1Jie Sun2Yongming Liu3Zekun Lang4Lei Zhang5Jinggang Yang6Department of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Anesthesia and Surgery, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaThe First Clinical Medical College of Lanzhou University, 730000 Lanzhou, Gansu, ChinaThe First Clinical Medical College of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaHypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TNNT2, and MYBPC3. These mutations are usually inherited autosomal dominantly. Approximately 30–60% of HCM patients have a family history of similar cases among their immediate relatives. This underscores the significance of genetic factors in the development of HCM. Therefore, we summarized the gene mutation mechanisms associated with the onset of HCM and potential treatment directions. We aim to improve patient outcomes by increasing doctors’ awareness of genetic counseling, early diagnosis, and identification of asymptomatic patients. Additionally, we offer valuable insights for future research directions, as well as for early diagnosis and intervention.https://www.imrpress.com/journal/FBL/30/2/10.31083/FBL25714cardiomyopathyhypertrophic cardiomyopathyhereditygenetic mutations |
| spellingShingle | Jinli Chen Yang Xing Jie Sun Yongming Liu Zekun Lang Lei Zhang Jinggang Yang Hypertrophic Cardiomyopathy: Genes and Mechanisms Frontiers in Bioscience-Landmark cardiomyopathy hypertrophic cardiomyopathy heredity genetic mutations |
| title | Hypertrophic Cardiomyopathy: Genes and Mechanisms |
| title_full | Hypertrophic Cardiomyopathy: Genes and Mechanisms |
| title_fullStr | Hypertrophic Cardiomyopathy: Genes and Mechanisms |
| title_full_unstemmed | Hypertrophic Cardiomyopathy: Genes and Mechanisms |
| title_short | Hypertrophic Cardiomyopathy: Genes and Mechanisms |
| title_sort | hypertrophic cardiomyopathy genes and mechanisms |
| topic | cardiomyopathy hypertrophic cardiomyopathy heredity genetic mutations |
| url | https://www.imrpress.com/journal/FBL/30/2/10.31083/FBL25714 |
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