Abstract
Objectives
To analyze the global research trends of hypertrophic cardiomyopathy (HCM) from 2000 to 2022 and explore new frontiers in this field.
Methods
We reviewed the literature in the Web of Science Core Collection database from January 2000 to August 2022 using the retrieval strategy of medical subject headings combined with text words. We focused on articles and reviews that were published in English. Relevant data of the target publications, such as title, authors, organizations, abstract, keywords, published date, journal, and number of citations, were collected. The R software with the “bibliometrix” and VOSviewer software was used to process and visualize the information.
Results
Among a total of 20,581 records related to HCM, 13,427 from 103 countries and regions, 8,676 affiliations, and 46,645 researchers were included. Most of the publications in this field were from the United States, followed by Japan, the United Kingdom, and China. We also report the top 10 institutions and most influential researchers, cited articles, and highest-frequency keywords (echocardiography, heart failure, sudden cardiac death, genetics, atrial fibrillation, magnetic resonance imaging/cardiac magnetic resonance, prognosis, mutation, arrhythmia, late gadolinium enhancement). In addition, keywords trend analysis indicated that the novel medicine Mavacamten, genetic diagnosis, and cardiac magnetic resonance have attracted the most attention for the treatment and diagnosis of HCM over the past five years.
Conclusion
The present study reports on the global research trends of HCM over the past two decades using bibliometric analysis. It may enlighten new frontiers in the diagnosis, treatment, and risk prevention of HCM.
Keywords: hypertrophic cardiomyopathy, bibliometric analysis, Mavacamten, genetic diagnosis, cardiac magnetic resonance, web of science
1. Introduction
Hypertrophic cardiomyopathy (HCM) is a primary type of heritable cardiomyopathy characterized by spontaneous genetic mutations and progressive myocardial hypertrophy. According to epidemiological investigations, the prevalence of HCM is approximately 1 per 200 in America and 800 per million in China. It is considered the main cause of sudden cardiac death in young people and even athletes (1–3). The current mainstream opinion regards mutations in genes encoding proteins of the cardiomyocytic contractile apparatus as the major pathogenesis of HCM. Nevertheless, obvious clinical heterogeneity in patients with HCM and the increasing number of clinical trials indicates certain limitations to the single gene mutation theory (4). With the development of high-throughput sequencing technology and bioinformatics, a more precise type of medication based on genomics, transcriptomes, proteomes, and metabolomes has made essential contributions to deepening the understanding of the genetic molecular mechanism underlying HCM (5, 6). With efforts such as the popularization of genetic diagnosis, accelerated research process of targeted therapeutic drugs (7), application of innovative operative treatment [Liwen Procedure (8)], employment of sudden cardiac death risk prediction models (9) and upgrade of management guidelines for HCM in 2020 (10), there have also been remarkable achievements in the diagnosis, treatment, and risk prevention of HCM over the past two decades.
Given the rapid increase in the number of scientific publications on HCM, it is necessary to understand the change in research topics in this field over time and explore possible future trends. However, it remains a challenge to gain a comprehensive overview of the prominent research on HCM without the use of bibliometrics. Bibliometrics refers to the quantitative analysis of published academic literature using mathematical and statistical methods to explore the development of a certain research field within a specific time frame. It emphasizes the impact of publications; the contributions of individuals, institutions, and countries; as well as the main directions of future research (11). To the best of our knowledge, there is yet to be a bibliometric analysis on HCM. Thus, in this study, we conducted such an analysis to identify the global research trends on HCM over the past two decades and explore new frontiers in this topic. The flowchart of this research is illustrated in Figure 1.
2. Materials and methods
2.1. Literature source and retrieval strategy
This study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline (12). Web of Science (WOS) is considered as a prominent multidisciplinary literature databases in the world, widely used to source data for bibliometric (13, 14). We reviewed the literature in the WOS Core Collection database from January 2000 to August 2022 using a retrieval strategy guided by medical subject headings combined with text words. The medical subject headings and text words were identified from the database of National Library of Medicine (https://www.ncbi.nlm.nih.gov/). The detailed retrieval strategy was set as follows: Subject term: [Hypertrophic Cardiomyopathy] or [Hypertrophic Obstructive Cardiomyopathies]; Type of literature: [articles and reviews]; Time span: [from 2000 to 2022]; Language selection: [English], Citation indexes: [SCI-Expanded] (15). Literature retrieval was conducted independently by two researchers (Xifeng Zheng and Zhen Jia). Relevant details of the target publications, such as title, authors, organizations, abstract, keywords, published date, published journal, references and number of citations were saved in “.txt” format.
2.2. Bibliometric analysis
We comprehensively analyzed the countries and regions, institutions, and researchers involved in HCM over the past two decades and report the top 10 contributing countries, outstanding institutions, influential researchers and the related structure of the international cooperation network in terms of involved nations, institutions, and researchers. Moreover, journals with most HCM-related publications, and the most cited articles of on HCM were also investigated. Finally, we explored the highest-frequency keywords and the hotspot changes in hotspots in this field using keyword trend analysis, with a standard filter setting of keywords frequency greater than 15 and more than three keywords per year. The R software (version 4.0.3) on the Biblioshiny app equipped with the “bibliometrix”program (16) (version 4.0), VOSviewer (version 1.6.18) (17) and Microsoft Excel 2016 were used to process and visualize data.
3. Results
3.1. Overview of the dataset
Overall, 20,581 records related to HCM were obtained from the WOS database, and a total of 13,427 articles or literature reviews were selected for further analysis. In total, 103 countries and regions, 8,676 affiliations, and 46,645 researchers are involved in this field and the number of scientific publications is increasing year-on-year, with an annual growth rate of 3.44% (Figure 2A). International cooperation programs are mostly concentrated in America, Argentina, Australia, Brazil, Canada, China, European, India, Japan and Korea (Figure 2B, sorted by country initials).
3.2. Information on the top 10 countries, institutions, and scholars contributing to HCM research
Globally, the United States accumulating contributed the most scientific publications on HCM, followed by Japan, the United Kingdom, China, Italy, Germany, Canada, the Netherlands, France, and Spain (Figure 3). The top 10 outstanding institutions are, in order, Mayo Clinic, Harvard University, Stanford University, Baylor College of Medicine, Brigham and Women’s Hospital, University of Sydney, Johns Hopkins University, University of Toronto, The Pennsylvania State University, and Harvard Medical School (Figure 4). The H-index represented an indicator to reflects a scholar’s academic achievement. It combines two key metrics, publication and citation counts, and is defined as the number of papers with citation number ≥ H (18, 19). The most influential scholar of HCM was Barry J Maron from Tufts Medical Center Hypertrophic Cardiomyopathy Center according to the H-index evaluation criteria, followed by William J McKenna (University College London), Martin S Maron (Tufts Medical Center Hypertrophic Cardiomyopathy Center), Michael J. Ackerman, Steve R. Ommen, Christine E. Seidman, Perry M. Elliott, Jonathan G. Seidman, Iacopo Olivotto, Jeffrey A. Towbin (Table 1). The cooperation networks of worldwide outstanding institutions and scholars were illustrated in Figure 5.
TABLE 1.
Scholar | H-index | Institution | Country |
Barry J. Maron | 93 | Tufts Medical Center | USA |
William J. McKenna | 65 | University College London | UK |
Martin S. Maron | 61 | Tufts Medical Center | USA |
Michael J. Ackerman | 59 | Mayo Clinic | USA |
Steve R. Ommen | 58 | Mayo Clinic | USA |
Christine E. Seidman | 58 | Harvard Medical School | USA |
Perry M. Elliott | 55 | University College London | UK |
Jonathan G. Seidman | 53 | Harvard Medical School | USA |
Iacopo Olivotto | 50 | University of Florence | Italy |
Jeffrey A. Towbin | 47 | Cincinnati Children’s Hospital Medical Center | USA |
3.3. Influential journals and high-cited articles in the HCM research field
The top 10 journals with the most publications on HCM are, in order, the American Journal of Cardiology, Journal of the American College of Cardiology, Circulation, International Journal of Cardiology, Heart, Journal of the American Society of Echocardiography, Echocardiography, Circulation Journal, Journal of Molecular and Cellular Cardiology and European Heart Journal (Table 2). The top 10 most cited articles since year 2000 year are displayed in Table 3, most of which belong to are guidelines or literature reviews with significance in a certain stage.
TABLE 2.
Journal | Article | IF (2022) |
JCR (2022) | Publisher |
American Journal of Cardiology | 347 | 3.133 | Q3 | Elsevier |
Journal of the American College of Cardiology | 271 | 27.203 | Q1 | Elsevier |
Circulation | 237 | 39.918 | Q1 | Lippincott Williams and Wilkins |
International Journal of Cardiology | 227 | 4.039 | Q2 | Elsevier |
Heart | 192 | 7.365 | Q1 | BMJ Publishing Group |
Journal of the American Society of Echocardiography | 174 | 7.722 | Q1 | Elsevier |
Echocardiography* | 172 | 1.874 | Q4 | Wiley |
Circulation Journal | 155 | 3.350 | Q3 | Japanese Circulation Society |
Journal of Molecular and Cellular Cardiology | 155 | 5.763 | Q2 | Elsevier |
European Heart Journal | 144 | 35.855 | Q1 | Oxford University Press |
*full name “Echocardiography: A Journal of Cardiovascular Ultrasound and Allied Techniques”.
IF, impact factor; JCR, Journal Citation Reports [Clarivate, 2022].
TABLE 3.
Authors | Title | Journal | Local citations | Global citations |
Perry M. Elliott et al. | 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) (41) | European Heart Journal | 1,670 | 2,354 |
Barry J. Maron et al. | Hypertrophic cardiomyopathy: a systematic review (42) | Journal of the American Medical Association | 1,212 | 1,550 |
Martin S. Maron et al. | Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy (43) | New England Journal of Medicine | 713 | 887 |
Pascale Richard et al. | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy (44) | Circulation | 697 | 861 |
Bernard J. Gersh et al. | 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons (45) | Journal of the American College of Cardiology | 529 | 699 |
P Spirito et al. | Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy (46) | New England Journal of Medicine | 524 | 710 |
Barry J. Maron et al. | Clinical course of hypertrophic cardiomyopathy with survival to advanced age (47) | Journal of the American College of Cardiology | 509 | 676 |
Perry Elliott et al. | Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases (48) | European Heart Journal | 503 | 1592 |
Barry J. Maron et al. | Hypertrophic cardiomyopathy (49) | Lancet | 502 | 639 |
Perry M. Elliott et al. | Sudden death in hypertrophic cardiomyopathy: identification of high-risk patients (50) | Journal of the American College of Cardiology | 469 | 608 |
3.4. Keywords and hotspots trend analyses
A total of 13,574 keywords were noted by the author as mentioned in the dataset. We identified echocardiography, heart failure, sudden cardiac death, genetics, atrial fibrillation, magnetic resonance imaging/cardiac magnetic resonance, prognosis, mutation, arrhythmia, and late gadolinium enhancement as the top 10 keywords. (Figure 6A). These keywords can be categorized into two topics focusing on diagnosis methods and clinical complications of HCM. In addition, we summarized the keyword trends from 2010 to 2022 and explored the hotspots in HCM. The results indicate that the novel medicine Mavacamten, genetic tests, and cardiac magnetic resonance attracted the most attention in the treatment and diagnosis of HCM in recent years (Figure 6B).
4. Discussion
In this present study, quantitative statistical analysis of the scientific literature in the field of HCM over the past 2 decades was conducted using bibliometrics. The results showed that the number of papers in this field is increasing year-on-year, with an annual growth rate of 3.44%. This indicates that clinical researchers are maintaining a continuous interest in this field. With gradually strengthening international cooperation, our knowledge in this field is also constantly improving. The United States plays a leading role in this field, which is reflected by its many outstanding scientific research institutions and influential researchers, international cooperation initiatives, and the largest number of influential scientific achievements. Through the analysis of the development trends, we found that the research interest in this field focuses mainly on diagnostic technology (such as genetic testing and cardiac imaging examination), risk of major adverse cardiac events prevention and prognosis evaluation, and novel treatment methods.
Echocardiography, magnetic resonance imaging, cardiac magnetic resonance (CMR), and late gadolinium enhancement (LGE) account for four of the top 10 most frequent keywords, indicating that cardiac imaging is essential to the diagnosis of HCM. Echocardiography is the first-choice imaging method in HCM evaluation and family screening owing to its non-invasiveness and convenience. Compared with echocardiography, CMR not only possesses an advantage in terms of image quality, but it is also more suited for risk stratification and prognostic prediction (20). Specifically, CMR imaging combined with LGE can directly reflect the degree of myocardial fibrosis in HCM and has become a research hotspot in recent years (21). Myocardial fibrosis is a common pathological state in HCM and various other cardiac diseases and is an essential cause of ventricular tachyarrhythmia caused by reentrant activity and initiation trigger mechanisms (22). Multiple clinical studies and meta-analyses have shown that ventricular fibrosis detected using LGE is a powerful predictor of sudden cardiac death (SCD) events in patients with HCM (21, 23–26). The advanced cardiac imaging functional assessment combined with the SCD risk prediction model based on traditional clinical parameters (9) provides individualized assessment for the risk stratification of the HCM population including SCD events risk.
Genetic testing, followed by the rapid evolution of next-generation sequencing, has become more common and significant in identifying asymptomatic HCM patients with positive genetic types and differential diagnosis with other inherited heart diseases (such as Fabry disease (27) or hereditary transthyretin amyloidosis) that may manifest with similar phenocopies. In addition, genetic testing can assist in the diagnosis of population with family history and guide treatment management of relatives potentially at risk to prevent adverse outcomes (28). Thus, genetic testing has been recommended by the 2020 AHA/ACC guideline of HCM as a prominent diagnostic procedure during family screening (10).
Medication and surgery/interventional therapy are the two major forms of treatment for HCM. Medication includes beta-receptor blockers, which are suitable for both patients with obstructive and non-obstructive HCM, however, efficacy may be limited for patients with severely obstructive symptoms (29). A small-molecule inhibitor of sarcomere contractility named MYK-461 has attracted the attention of the academic community since 2016 because it can reduce contractility by decreasing the adenosine triphosphatase activity of the cardiac myosin heavy chain and suppress the development of ventricular hypertrophy, cardiomyocyte disarray, and myocardial fibrosis in mice (7). Subsequently, the novel medication Mavacamten originated from MYK-461 has achieved encouraging results in several clinical trials of patients with hypertrophic obstructive cardiomyopathy manifesting as improved post-exercise left ventricular outflow tract pressure gradients, exercise tolerance, and clinical symptoms (30–34). Thus, Mavacamten received its first approval on April 28, 2022 in the United States for the treatment of adults with symptomatic New York Heart Association (NYHA) class II–III obstructive HCM, to improve functional capacity and symptoms (35). However, evidence from clinical trials on the treatment of non-obstructive hypertrophic cardiomyopathy with Mavacamten is currently lacking, which is a direction of concern in the future.
The surgical and interventional therapy methods consist of septal myectomy (SM), alcohol septal ablation (ASA), and pacemaker treatment. SM therapy was first proposed by Morrow in 1961 and improved by Messmer in 1994. It has a definite curative effect in clinical practice and is considered the gold-standard treatment for medically refractory obstructive HCM. For elderly patients with chronic diseases who cannot tolerate SM operation, the ASA procedure is a relatively effective and safe alteration (36, 37). Besides the traditional operations mentioned above, it is worth noting that an innovative type of surgery named the Liwen procedure has been proposed by Chinese clinicians in recent years. This new process is echocardiography-guided and involves a myocardial biopsy and percutaneous intramyocardial septal radiofrequency ablation, which is remarkably effective in practice. This procedure may revolutionize the treatment of obstructive HCM (8, 38–40).
Compared with traditional literature reviews, a bibliometric analysis can provide better insight into the evolving research on relevant foci and trends via comprehensive and objective data analysis. Our analysis is exclusively based on all objective information, without supervision interferences which may have led to further bias. Nonetheless, the study has some limitations. First, our dataset was retrieved from the WOS database alone. Although the WOS database has been widely used for bibliometric studies because of the recording of the citation information of the literature, which counts for a vital part of research output indicators, some articles might still have been missed. Second, the study only focused on original research and literature reviews published in English; therefore, selection bias was inevitable.
5. Conclusion
The present study reports on the global research trends of HCM over the past 2 decades using bibliometric analysis. It may enlighten new frontiers in the diagnosis, treatment, and risk prevention of HCM.
Data availability statement
The original contributions presented in this study are included in the article/supplementary material, further inquiries can be directed to the corresponding author.
Ethics statement
Ethical review and approval was not required for this study in accordance with the local legislation and institutional requirements.
Author contributions
XZ was involved in the conception and manuscript writing. ZJ was responsible for conception and scientific supervision. ZH and ML were involved in statistics and software. All authors reviewed and approved the final manuscript.
Acknowledgments
We would like to thank David and Flavio from Editage (www.editage.cn) for English language editing.
Funding Statement
This study was funded by the Youth Scientific Research Program of Guangdong Medical University (GDMUM2020024).
Abbreviations
HCM, hypertrophic cardiomyopathy; WOS, Web of Science; LGE, late gadolinium enhancement; CMR, cardiac magnetic resonance; SCD, sudden cardiac death.
Conflict of interest
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Publisher’s note
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.
References
- 1.Maron B. Clinical course and management of hypertrophic cardiomyopathy. N Engl J Med. (2018) 379:655–68. 10.1056/NEJMra1710575 [DOI] [PubMed] [Google Scholar]
- 2.Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med. (2004) 116:14–8. 10.1016/j.amjmed.2003.05.009 [DOI] [PubMed] [Google Scholar]
- 3.Maron B, Rowin E, Maron M. Hypertrophic cardiomyopathy: new concepts and therapies. Annu Rev Med. (2022) 73:363–75. 10.1146/annurev-med-042220-021539 [DOI] [PubMed] [Google Scholar]
- 4.Maron B, Maron M, Maron B, Loscalzo J. Moving beyond the sarcomere to explain heterogeneity in hypertrophic cardiomyopathy: JACC review topic of the week. J Am Coll Cardiol. (2019) 73:1978–86. 10.1016/j.jacc.2019.01.061 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 5.Fatkin D, Calkins H, Elliott P, James C, Peters S, Kovacic J. Contemporary and future approaches to precision medicine in inherited cardiomyopathies: JACC focus seminar 3/5. J Am Coll Cardiol. (2021) 77:2551–72. 10.1016/j.jacc.2020.12.072 [DOI] [PubMed] [Google Scholar]
- 6.Dainis A, Ashley E. Cardiovascular precision medicine in the genomics era. JACC Basic Transl Sci. (2018) 3:313–26. 10.1016/j.jacbts.2018.01.003 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7.Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. (2016) 351:617–21. 10.1126/science.aad3456 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 8.Han C, Zhou M, Hu R, Wang B, Zuo L, Li J, et al. Trans-septal myocardial biopsy in hypertrophic cardiomyopathy using the liwen procedure: an introduction of a novel technique. J Interv Cardiol. (2021) 2021:1905184. 10.1155/2021/1905184 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 9.O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. (2014) 35:2010–20. 10.1093/eurheartj/eht439 [DOI] [PubMed] [Google Scholar]
- 10.Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association joint committee on clinical practice guidelines. J Am Coll Cardiol. (2020) 76:e159–240. [DOI] [PubMed] [Google Scholar]
- 11.Ellegaard O, Wallin J. The bibliometric analysis of scholarly production: how great is the impact? Scientometrics. (2015) 105:1809–31. 10.1007/s11192-015-1645-z [DOI] [PMC free article] [PubMed] [Google Scholar]
- 12.von Elm E, Altman D, Egger M, Pocock S, Gøtzsche P, Vandenbroucke J. The strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies. Ann Intern Med. (2007) 147:573–7. 10.7326/0003-4819-147-8-200710160-00010 [DOI] [PubMed] [Google Scholar]
- 13.AlRyalat SAS, Malkawi LW, Momani SM. Comparing bibliometric analysis using pubmed, scopus, and web of science databases. J Vis Exp. (2019). 10.3791/58494 [DOI] [PubMed] [Google Scholar]
- 14.Kokol P, Vošner H. Discrepancies among Scopus, Web of Science, and PubMed coverage of funding information in medical journal articles. J Med Library Assoc. (2018) 106:81–6. 10.5195/jmla.2018.181 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 15.Zhang X, Zhao Y, Zhou Y, Lv J, Peng J, Zhu H, et al. Trends in research on sick sinus syndrome: a bibliometric analysis from 2000 to 2022. Front Cardiovasc Med. (2022) 9:991503. 10.3389/fcvm.2022.991503 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 16.Aria M, Cuccurullo C. bibliometrix: an R-tool for comprehensive science mapping analysis. J Inform. (2017) 11:959–75. 10.1016/j.joi.2017.08.007 [DOI] [Google Scholar]
- 17.van Eck N, Waltman L. Software survey: VOSviewer, a computer program for bibliometric mapping. Scientometrics. (2010) 84:523–38. 10.1007/s11192-009-0146-3 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 18.Hirsch J. An index to quantify an individual’s scientific research output. Proc Natl Acad Sci U.S.A. (2005) 102:16569–72. 10.1073/pnas.0507655102 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 19.Schreiber W, Giustini D. Measuring scientific impact with the h-index: a primer for pathologists. Am J Clin Pathol. (2019) 151:286–91. 10.1093/ajcp/aqy137 [DOI] [PubMed] [Google Scholar]
- 20.Maron BJ, Desai MY, Nishimura RA, Spirito P, Rakowski H, Towbin JA, et al. Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. (2022) 79:372–89. 10.1016/j.jacc.2021.12.002 [DOI] [PubMed] [Google Scholar]
- 21.Dohy Z, Szabo L, Toth A, Czimbalmos C, Horvath R, Horvath V, et al. Prognostic significance of cardiac magnetic resonance-based markers in patients with hypertrophic cardiomyopathy. Int J Cardiovasc Imaging. (2021) 37:2027–36. 10.1007/s10554-021-02165-8 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 22.Disertori M, Masè M, Ravelli F. Myocardial fibrosis predicts ventricular tachyarrhythmias. Trends Cardiovasc Med. (2017) 27:363–72. 10.1016/j.tcm.2017.01.011 [DOI] [PubMed] [Google Scholar]
- 23.Weng Z, Yao J, Chan RH, He J, Yang X, Zhou Y, et al. Prognostic value of LGE-CMR in HCM: a meta-analysis. JACC Cardiovasc Imaging. (2016) 9:1392–402. 10.1016/j.jcmg.2016.02.031 [DOI] [PubMed] [Google Scholar]
- 24.He D, Ye M, Zhang L, Jiang B. Prognostic significance of late gadolinium enhancement on cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. Heart Lung. (2018) 47:122–6. 10.1016/j.hrtlng.2017.10.008 [DOI] [PubMed] [Google Scholar]
- 25.Todiere G, Nugara C, Gentile G, Negri F, Bianco F, Falletta C, et al. Prognostic role of late gadolinium enhancement in patients with hypertrophic cardiomyopathy and low-to-intermediate sudden cardiac death risk score. Am J Cardiol. (2019) 124:1286–92. 10.1016/j.amjcard.2019.07.023 [DOI] [PubMed] [Google Scholar]
- 26.Bittencourt MI, Cader SA, Araújo DV, Salles AL, Albuquerque FN, Spineti PP, et al. Role of myocardial fibrosis in hypertrophic cardiomyopathy: a systematic review and updated meta-analysis of risk markers for sudden death. Arq Bras Cardiol. (2019) 112:281–9. 10.5935/abc.20190045 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 27.Pellikka P, Dudzinski D, Lubitz S, Tsang T, Tower-Rader A, Karaa A. Case 10-2022: a 78-year-old man with marked ventricular wall thickening. N Engl J Med. (2022) 386:1266–76. 10.1056/NEJMcpc2201230 [DOI] [PubMed] [Google Scholar]
- 28.Ahluwalia M, Ho C. Cardiovascular genetics: the role of genetic testing in diagnosis and management of patients with hypertrophic cardiomyopathy. Heart. (2021) 107:183–9. 10.1136/heartjnl-2020-316798 [DOI] [PubMed] [Google Scholar]
- 29.Dybro AM, Rasmussen TB, Nielsen RR, Ladefoged BT, Andersen MJ, Jensen MK, et al. Effects of metoprolol on exercise hemodynamics in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. (2022) 79:1565–75. 10.1016/j.jacc.2022.02.024 [DOI] [PubMed] [Google Scholar]
- 30.Heitner SB, Jacoby D, Lester SJ, Owens A, Wang A, Zhang D, et al. Mavacamten treatment for obstructive hypertrophic cardiomyopathy: a clinical trial. Ann Intern Med. (2019) 170:741–8. 10.7326/M18-3016 [DOI] [PubMed] [Google Scholar]
- 31.Olivotto I, Oreziak A, Barriales-Villa R, Abraham TP, Masri A, Garcia-Pavia P, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. (2020) 396:759–69. [DOI] [PubMed] [Google Scholar]
- 32.Ho CY, Mealiffe ME, Bach RG, Bhattacharya M, Choudhury L, Edelberg JM, et al. Evaluation of mavacamten in symptomatic patients with nonobstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. (2020) 75:2649–60. 10.1016/j.jacc.2020.03.064 [DOI] [PubMed] [Google Scholar]
- 33.Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, et al. Effect of mavacamten on echocardiographic features in symptomatic patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. (2021) 78:2518–32. 10.1016/j.jacc.2021.09.1381 [DOI] [PubMed] [Google Scholar]
- 34.Saberi S, Cardim N, Yamani M, Schulz-Menger J, Li W, Florea V, et al. Mavacamten favorably impacts cardiac structure in obstructive hypertrophic cardiomyopathy: EXPLORER-HCM cardiac magnetic resonance substudy analysis. Circulation. (2021) 143:606–8. 10.1161/CIRCULATIONAHA.120.052359 [DOI] [PubMed] [Google Scholar]
- 35.Keam S. Mavacamten: first approval. Drugs. (2022) 82:1127–35. 10.1007/s40265-022-01739-7 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 36.Zheng X, Yang B, Hui H, Lu B, Feng Y. Alcohol septal ablation or septal myectomy? An updated systematic review and meta-analysis of septal reduction therapy for hypertrophic obstructive cardiomyopathy. Front Cardiovasc Med. (2022) 9:900469. 10.3389/fcvm.2022.900469 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 37.Cui H, Schaff H, Wang S, Lahr BD, Rowin EJ, Rastegar H, et al. Survival following alcohol septal ablation or septal myectomy for patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. (2022) 79:1647–55. 10.1016/j.jacc.2022.02.032 [DOI] [PubMed] [Google Scholar]
- 38.Zhou M, Ta S, Hahn RT, Hsi DH, Leon MB, Hu R, et al. Percutaneous intramyocardial septal radiofrequency ablation in patients with drug-refractory hypertrophic obstructive cardiomyopathy. JAMA Cardiol. (2022) 7:529–38. 10.1001/jamacardio.2022.0259 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 39.Liu L, Zhou M, Zuo L, Li J, Chen W, Xu B, et al. Echocardiography guided liwen procedure(™) for the treatment of obstructive hypertrophic cardiomyopathy in a patient with prior aortic valve replacement surgery: Liwen procedure for intra-myocardial radiofrequency ablation. Echocardiography. (2018) 35:1230–2. 10.1111/echo.14040 [DOI] [PubMed] [Google Scholar]
- 40.Zuo L, Hsi DH, Zhang L, Zhang Q, Shao H, Liu B, et al. Electrocardiographic QRS voltage amplitude improvement by intramyocardial radiofrequency ablation in patients with hypertrophic obstructive cardiomyopathy and one year follow up. J Electrocardiol. (2020) 61:164–9. 10.1016/j.jelectrocard.2020.06.013 [DOI] [PubMed] [Google Scholar]
- 41.Elliott P, Anastasakis A, Borger M, Borggrefe M, Cecchi F, Charron P, et al. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy. Kardiol Polska. (2014) 72:1054–126. 10.5603/KP.2014.0212 [DOI] [PubMed] [Google Scholar]
- 42.Maron B. Hypertrophic cardiomyopathy: a systematic review. JAMA. (2002) 287:1308–20. 10.1001/jama.287.10.1308 [DOI] [PubMed] [Google Scholar]
- 43.Maron MS, Olivotto I, Betocchi S, Casey SA, Lesser JR, Losi MA, et al. Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med. (2003) 348:295–303. 10.1056/NEJMoa021332 [DOI] [PubMed] [Google Scholar]
- 44.Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. (2003) 107:2227–32. 10.1161/01.CIR.0000066323.15244.54 [DOI] [PubMed] [Google Scholar]
- 45.Gersh B, Maron B, Bonow R, Dearani JA, Fifer MA, Link MS, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American college of cardiology foundation/American heart association task force on practice guidelines. developed in collaboration with the American Association for thoracic surgery, American society of echocardiography, American society of nuclear cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for cardiovascular angiography and interventions, and society of thoracic surgeons. J Am Coll Cardiol. (2011) 58:e212–60. [DOI] [PubMed] [Google Scholar]
- 46.Spirito P, Bellone P, Harris K, Bernabò P, Bruzzi P, Maron B. Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med. (2000) 342:1778–85. 10.1056/NEJM200006153422403 [DOI] [PubMed] [Google Scholar]
- 47.Maron B, Casey S, Hauser R, Aeppli D. Clinical course of hypertrophic cardiomyopathy with survival to advanced age. J Am Coll Cardiol. (2003) 42:882–8. 10.1016/S0735-1097(03)00855-6 [DOI] [PubMed] [Google Scholar]
- 48.Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the European society of cardiology working group on myocardial and pericardial diseases. Eur Heart J. (2008) 29:270–6. 10.1093/eurheartj/ehm342 [DOI] [PubMed] [Google Scholar]
- 49.Maron B, Maron M. Hypertrophic cardiomyopathy. Lancet. (2013) 381:242–55. 10.1016/S0140-6736(12)60397-3 [DOI] [PubMed] [Google Scholar]
- 50.Elliott PM, Poloniecki J, Dickie S, Sharma S, Monserrat L, Varnava A, et al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol. (2000) 36:2212–8. 10.1016/S0735-1097(00)01003-2 [DOI] [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
The original contributions presented in this study are included in the article/supplementary material, further inquiries can be directed to the corresponding author.