Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype
Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and F...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2023-01-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.005 |
| _version_ | 1797369843573325824 |
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| author | LIU Yanbo TIAN Zhuang ZHANG Shuyang |
| author_facet | LIU Yanbo TIAN Zhuang ZHANG Shuyang |
| author_sort | LIU Yanbo |
| collection | DOAJ |
| description | Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and Fabry disease. Previous therapies did not target the etiology and pathogenesis and therefore were less effective. In recent years, treatments targeting different mechanisms of myocardial hypertrophy have achieved good results. Mavacamten can reduce myocardial contractility by inhibiting ATP activity, thereby significantly improving left ventricular outflow tract(LVOT) obstruction, cardiac contractility, ventricular tension, and limitting myocardial damage. By inhibiting the dissociation of transthyretin(TTR) and subsequent formation and deposition of the amyloid fibril, tafamidis can reduce the mortality and morbidity of patients with transthyretin cardiac amyloidosis(ATTR-CA). Gene silencing and gene editing technology can reduce abnormal TTR levels. Synthesis of α-galactosidase A by gene recombination technology in vitro can effectively reduce left ventricular mass index(LVMi), improve cardiac function, reduce angina attacks and decrease mortality of Fabry disease. |
| first_indexed | 2024-03-08T17:53:55Z |
| format | Article |
| id | doaj.art-0721acb26fa94cb8820d419000eb544c |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-08T17:53:55Z |
| publishDate | 2023-01-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-0721acb26fa94cb8820d419000eb544c2024-01-02T06:07:54ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012023-01-0121364210.12376/j.issn.2097-0501.2023.01.005Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic PhenotypeLIU YanboTIAN ZhuangZHANG Shuyang0Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaHypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and Fabry disease. Previous therapies did not target the etiology and pathogenesis and therefore were less effective. In recent years, treatments targeting different mechanisms of myocardial hypertrophy have achieved good results. Mavacamten can reduce myocardial contractility by inhibiting ATP activity, thereby significantly improving left ventricular outflow tract(LVOT) obstruction, cardiac contractility, ventricular tension, and limitting myocardial damage. By inhibiting the dissociation of transthyretin(TTR) and subsequent formation and deposition of the amyloid fibril, tafamidis can reduce the mortality and morbidity of patients with transthyretin cardiac amyloidosis(ATTR-CA). Gene silencing and gene editing technology can reduce abnormal TTR levels. Synthesis of α-galactosidase A by gene recombination technology in vitro can effectively reduce left ventricular mass index(LVMi), improve cardiac function, reduce angina attacks and decrease mortality of Fabry disease.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.005hypertrophic cardiomyopathymyosin inhibitortafamidisenzyme replacement therapytransthyretin cardiac amyloidosis |
| spellingShingle | LIU Yanbo TIAN Zhuang ZHANG Shuyang Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype 罕见病研究 hypertrophic cardiomyopathy myosin inhibitor tafamidis enzyme replacement therapy transthyretin cardiac amyloidosis |
| title | Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype |
| title_full | Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype |
| title_fullStr | Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype |
| title_full_unstemmed | Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype |
| title_short | Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype |
| title_sort | progress in new therapies targeting the pathogenesis of cardiomyopathywith hypertrophic phenotype |
| topic | hypertrophic cardiomyopathy myosin inhibitor tafamidis enzyme replacement therapy transthyretin cardiac amyloidosis |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.005 |
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