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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