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REVIEW article

Front. Med.
Sec. Gene and Cell Therapy
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1507313

Advances in Genetic Diagnosis and Therapy of Hereditary Heart Disease: A Bibliometric Review from 2004 to 2024

Provisionally accepted
Huixi Ma Huixi Ma 1Yun Wang Yun Wang 1Yang Jia Yang Jia 1Linjun Xie Linjun Xie 1Lini Liu Lini Liu 1Dingyi Zhang Dingyi Zhang 2Xinyue Ma Xinyue Ma 1,2Yingkun Guo Yingkun Guo 1*Rong Xu Rong Xu 1*
  • 1 West China Second University Hospital, Sichuan University, Chengdu, China
  • 2 Sichuan University, Chengdu, Sichuan Province, China

The final, formatted version of the article will be published soon.

    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 twenty years, including author, country, institution, keyword, and so on. There were 5757 publications were screened and aggregated in the database, including 1876 reviews and 3881 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.

    Keywords: Hereditary heart disease, Cardiac death, Genetic diagnostic, cardiomyopathy, scientometrics

    Received: 07 Oct 2024; Accepted: 18 Dec 2024.

    Copyright: © 2024 Ma, Wang, Jia, Xie, Liu, Zhang, Ma, Guo and Xu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Yingkun Guo, West China Second University Hospital, Sichuan University, Chengdu, China
    Rong Xu, West China Second University Hospital, Sichuan University, Chengdu, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.