Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024
Hereditary heart disease (HHD) is a series of cardiac disorders associated with monogenic or polygenic abnormalities and is one of the leading causes of sudden death, particularly in young adults. The updated European Cardiology guideline for cardiomyopathies provides the first comprehensive summary...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2024.1507313/full |
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| author | Huixi Ma Yun Wang Yang Jia Linjun Xie Lini Liu Dingyi Zhang Xinyue Ma Yingkun Guo Rong Xu |
| author_facet | Huixi Ma Yun Wang Yang Jia Linjun Xie Lini Liu Dingyi Zhang Xinyue Ma Yingkun Guo Rong Xu |
| author_sort | Huixi Ma |
| collection | DOAJ |
| description | Hereditary heart disease (HHD) is a series of cardiac disorders associated with monogenic or polygenic abnormalities and is one of the leading causes of sudden death, particularly in young adults. The updated European Cardiology guideline for cardiomyopathies provides the first comprehensive summary of genotyping, imaging, and therapy recommendations for inherited cardiomyopathies, but still lacks a comprehensive discussion of research advances and future trends in genetic diagnosis and therapy of HHD. Our research aims to fill this gap. Bibliometric analysis software (CiteSpace 6.3.R1, VOSviewer 1.6.18, and Scimago Graphica) was used to analyze the general information, trends, and emerging foci of HHD in the past 20 years, including author, country, institution, keyword, and so on. There were 5,757 publications were screened and aggregated in the database, including 1876 reviews and 3,881 articles. Hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), Brugada syndrome (BrS), myocardial amyloidosis, and Fabry disease (FD) were the main types of HHD that were explored in greater depth. Moreover, new diagnostic methods, clinical cohorts, and genetically targeted therapies for HHD patients are key research hotspots. The relationship between the pathogenicity of genes and prognosis will become increasingly important for therapy. |
| format | Article |
| id | doaj-art-5dd0dcdbb34846dc8e3b4c4213ac24fe |
| institution | Kabale University |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Medicine |
| spelling | doaj-art-5dd0dcdbb34846dc8e3b4c4213ac24fe2025-01-08T06:11:49ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-01-011110.3389/fmed.2024.15073131507313Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024Huixi Ma0Yun Wang1Yang Jia2Linjun Xie3Lini Liu4Dingyi Zhang5Xinyue Ma6Yingkun Guo7Rong Xu8Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaWest China Medical School, Sichuan University, Chengdu, ChinaWest China Medical School, Sichuan University, Chengdu, ChinaKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, ChinaHereditary heart disease (HHD) is a series of cardiac disorders associated with monogenic or polygenic abnormalities and is one of the leading causes of sudden death, particularly in young adults. The updated European Cardiology guideline for cardiomyopathies provides the first comprehensive summary of genotyping, imaging, and therapy recommendations for inherited cardiomyopathies, but still lacks a comprehensive discussion of research advances and future trends in genetic diagnosis and therapy of HHD. Our research aims to fill this gap. Bibliometric analysis software (CiteSpace 6.3.R1, VOSviewer 1.6.18, and Scimago Graphica) was used to analyze the general information, trends, and emerging foci of HHD in the past 20 years, including author, country, institution, keyword, and so on. There were 5,757 publications were screened and aggregated in the database, including 1876 reviews and 3,881 articles. Hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), Brugada syndrome (BrS), myocardial amyloidosis, and Fabry disease (FD) were the main types of HHD that were explored in greater depth. Moreover, new diagnostic methods, clinical cohorts, and genetically targeted therapies for HHD patients are key research hotspots. The relationship between the pathogenicity of genes and prognosis will become increasingly important for therapy.https://www.frontiersin.org/articles/10.3389/fmed.2024.1507313/fullhereditary heart diseasecardiac deathgenetic diagnosticcardiomyopathyscientometrics |
| spellingShingle | Huixi Ma Yun Wang Yang Jia Linjun Xie Lini Liu Dingyi Zhang Xinyue Ma Yingkun Guo Rong Xu Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 Frontiers in Medicine hereditary heart disease cardiac death genetic diagnostic cardiomyopathy scientometrics |
| title | Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 |
| title_full | Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 |
| title_fullStr | Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 |
| title_full_unstemmed | Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 |
| title_short | Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024 |
| title_sort | advances in genetic diagnosis and therapy of hereditary heart disease a bibliometric review from 2004 to 2024 |
| topic | hereditary heart disease cardiac death genetic diagnostic cardiomyopathy scientometrics |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2024.1507313/full |
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