Definitional Challenges in Understanding Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is the most common hereditary cardiomyopathy. It is often caused by mutations of genes encoding for sarcomeric or sarcomere-associated proteins. Despite its clinical importance, divergent definitions are published by major cardiology societies. Some regard HCM as a...
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MDPI AG
2024-11-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/14/22/2534 |
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| author | Jan M. Federspiel Jochen Pfeifer Frank Ramsthaler Jan-Christian Reil Peter H. Schmidt Vasco Sequeira |
| author_facet | Jan M. Federspiel Jochen Pfeifer Frank Ramsthaler Jan-Christian Reil Peter H. Schmidt Vasco Sequeira |
| author_sort | Jan M. Federspiel |
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| description | Hypertrophic cardiomyopathy (HCM) is the most common hereditary cardiomyopathy. It is often caused by mutations of genes encoding for sarcomeric or sarcomere-associated proteins. Despite its clinical importance, divergent definitions are published by major cardiology societies. Some regard HCM as a specific genetic disease, whereas others define it as a broad ‘spectrum of the thick heart’. The present narrative review aimed to assess both definitions from a pathoanatomical perspective. As a conjoint interdisciplinary and translational approach is needed to further increase knowledge and improve the understanding of HCM, the PubMed database was searched using several advanced search algorithms to explore the perspectives of the (forensic) pathologist, clinician, and basic researcher regarding the difference between the definitions of HCM. This discrepancy between definitions can impact critical data, such as prevalence and mortality rate, and complicate the understanding of the disease. For example, due to the different definitions, research findings regarding molecular changes from studies applying the narrow definition cannot be simply extended to the ‘spectrum’ of HCM. |
| format | Article |
| id | doaj-art-af1a1e70239549109e3b793c827e4934 |
| institution | Kabale University |
| issn | 2075-4418 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-af1a1e70239549109e3b793c827e49342024-11-26T17:59:48ZengMDPI AGDiagnostics2075-44182024-11-011422253410.3390/diagnostics14222534Definitional Challenges in Understanding Hypertrophic CardiomyopathyJan M. Federspiel0Jochen Pfeifer1Frank Ramsthaler2Jan-Christian Reil3Peter H. Schmidt4Vasco Sequeira5Institute for Legal Medicine, Faculty of Medicine, Saarland University, Campus Homburg, Building 49.1, Kirrberger Straße 100, 66421 Homburg/Saar, GermanyDepartment for Pediatric Cardiology, Saarland University Medical Centre, Building 9, Kirrberger Straße 100, 66421 Homburg/Saar, GermanyInstitute for Legal Medicine, Faculty of Medicine, Saarland University, Campus Homburg, Building 49.1, Kirrberger Straße 100, 66421 Homburg/Saar, GermanyDepartment of General and Interventional Cardiology, Heart and Diabetes Centre North Rhine-Westphalia, Ruhr University Bochum, 32545 Bad Oeynhausen, GermanyInstitute for Legal Medicine, Faculty of Medicine, Saarland University, Campus Homburg, Building 49.1, Kirrberger Straße 100, 66421 Homburg/Saar, GermanyDepartment for Translational Research, Congestive Heart Failure Centre, University Clinic Wuerzburg, Building A15, Am Schwarzberg 15, 97078 Wuerzburg, GermanyHypertrophic cardiomyopathy (HCM) is the most common hereditary cardiomyopathy. It is often caused by mutations of genes encoding for sarcomeric or sarcomere-associated proteins. Despite its clinical importance, divergent definitions are published by major cardiology societies. Some regard HCM as a specific genetic disease, whereas others define it as a broad ‘spectrum of the thick heart’. The present narrative review aimed to assess both definitions from a pathoanatomical perspective. As a conjoint interdisciplinary and translational approach is needed to further increase knowledge and improve the understanding of HCM, the PubMed database was searched using several advanced search algorithms to explore the perspectives of the (forensic) pathologist, clinician, and basic researcher regarding the difference between the definitions of HCM. This discrepancy between definitions can impact critical data, such as prevalence and mortality rate, and complicate the understanding of the disease. For example, due to the different definitions, research findings regarding molecular changes from studies applying the narrow definition cannot be simply extended to the ‘spectrum’ of HCM.https://www.mdpi.com/2075-4418/14/22/2534hypertrophic cardiomyopathyobstructive hypertrophic cardiomyopathymacroscopic pathoanatomydisease definitionmyocardial structural alterations |
| spellingShingle | Jan M. Federspiel Jochen Pfeifer Frank Ramsthaler Jan-Christian Reil Peter H. Schmidt Vasco Sequeira Definitional Challenges in Understanding Hypertrophic Cardiomyopathy Diagnostics hypertrophic cardiomyopathy obstructive hypertrophic cardiomyopathy macroscopic pathoanatomy disease definition myocardial structural alterations |
| title | Definitional Challenges in Understanding Hypertrophic Cardiomyopathy |
| title_full | Definitional Challenges in Understanding Hypertrophic Cardiomyopathy |
| title_fullStr | Definitional Challenges in Understanding Hypertrophic Cardiomyopathy |
| title_full_unstemmed | Definitional Challenges in Understanding Hypertrophic Cardiomyopathy |
| title_short | Definitional Challenges in Understanding Hypertrophic Cardiomyopathy |
| title_sort | definitional challenges in understanding hypertrophic cardiomyopathy |
| topic | hypertrophic cardiomyopathy obstructive hypertrophic cardiomyopathy macroscopic pathoanatomy disease definition myocardial structural alterations |
| url | https://www.mdpi.com/2075-4418/14/22/2534 |
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