Please use this identifier to cite or link to this item:
doi:10.22028/D291-43574
Title: | Definitional Challenges in Understanding Hypertrophic Cardiomyopathy |
Author(s): | Federspiel, Jan M. Pfeifer, Jochen Ramsthaler, Frank Reil, Jan-Christian Schmidt, Peter H. Sequeira, Vasco |
Language: | English |
Title: | Diagnostics |
Volume: | 14 |
Issue: | 22 |
Publisher/Platform: | MDPI |
Year of Publication: | 2024 |
Free key words: | hypertrophic cardiomyopathy obstructive hypertrophic cardiomyopathy macroscopic pathoanatomy disease definition myocardial structural alterations |
DDC notations: | 610 Medicine and health |
Publikation type: | Journal Article |
Abstract: | 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. |
DOI of the first publication: | 10.3390/diagnostics14222534 |
URL of the first publication: | https://doi.org/10.3390/diagnostics14222534 |
Link to this record: | urn:nbn:de:bsz:291--ds-435747 hdl:20.500.11880/39045 http://dx.doi.org/10.22028/D291-43574 |
ISSN: | 2075-4418 |
Date of registration: | 27-Nov-2024 |
Faculty: | M - Medizinische Fakultät |
Department: | M - Pädiatrie M - Rechtsmedizin |
Professorship: | M - Keiner Professur zugeordnet |
Collections: | SciDok - Der Wissenschaftsserver der Universität des Saarlandes |
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diagnostics-14-02534.pdf | 1,58 MB | Adobe PDF | View/Open |
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