{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:34:53Z","timestamp":1760146493549,"version":"build-2065373602"},"reference-count":125,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010578","name":"German Cardiology Society","doi-asserted-by":"publisher","award":["04\/2022","S23089"],"award-info":[{"award-number":["04\/2022","S23089"]}],"id":[{"id":"10.13039\/501100010578","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Bristol Myers Squibb and postdoctoral funding from the Japanese Society for the Promotion of Science","award":["04\/2022","S23089"],"award-info":[{"award-number":["04\/2022","S23089"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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 \u2018spectrum of the thick heart\u2019. 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 \u2018spectrum\u2019 of HCM.<\/jats:p>","DOI":"10.3390\/diagnostics14222534","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T06:10:48Z","timestamp":1731478248000},"page":"2534","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Definitional Challenges in Understanding Hypertrophic Cardiomyopathy"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9325-2658","authenticated-orcid":false,"given":"Jan M.","family":"Federspiel","sequence":"first","affiliation":[{"name":"Institute for Legal Medicine, Faculty of Medicine, Saarland University, Campus Homburg, Building 49.1, Kirrberger Stra\u00dfe 100, 66421 Homburg\/Saar, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1673-6285","authenticated-orcid":false,"given":"Jochen","family":"Pfeifer","sequence":"additional","affiliation":[{"name":"Department for Pediatric Cardiology, Saarland University Medical Centre, Building 9, Kirrberger Stra\u00dfe 100, 66421 Homburg\/Saar, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Ramsthaler","sequence":"additional","affiliation":[{"name":"Institute for Legal Medicine, Faculty of Medicine, Saarland University, Campus Homburg, Building 49.1, Kirrberger Stra\u00dfe 100, 66421 Homburg\/Saar, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan-Christian","family":"Reil","sequence":"additional","affiliation":[{"name":"Department of General and Interventional Cardiology, Heart and Diabetes Centre North Rhine-Westphalia, Ruhr University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Institute for Legal Medicine, Faculty of Medicine, Saarland University, Campus Homburg, Building 49.1, Kirrberger Stra\u00dfe 100, 66421 Homburg\/Saar, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9192-7674","authenticated-orcid":false,"given":"Vasco","family":"Sequeira","sequence":"additional","affiliation":[{"name":"Department for Translational Research, Congestive Heart Failure Centre, University Clinic Wuerzburg, Building A15, Am Schwarzberg 15, 97078 Wuerzburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1016\/S0002-8703(44)91039-2","article-title":"Cardiac Hypertrophy of Unknown Cause","volume":"28","author":"Levy","year":"1944","journal-title":"Am. 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