{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T19:54:47Z","timestamp":1791575687722,"version":"4.3.4"},"reference-count":119,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T00:00:00Z","timestamp":1618531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005743","name":"Universit\u00e0 Cattolica del Sacro Cuore","doi-asserted-by":"publisher","award":["R4124500772"],"award-info":[{"award-number":["R4124500772"]}],"id":[{"id":"10.13039\/501100005743","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Inherited cardiomyopathies are frequent causes of sudden cardiac death (SCD), especially in young patients. Despite at the autopsy they usually have distinctive microscopic and\/or macroscopic diagnostic features, their phenotypes may be mild or ambiguous, possibly leading to misdiagnoses or missed diagnoses. In this review, the main differential diagnoses of hypertrophic cardiomyopathy (e.g., athlete\u2019s heart, idiopathic left ventricular hypertrophy), arrhythmogenic cardiomyopathy (e.g., adipositas cordis, myocarditis) and dilated cardiomyopathy (e.g., acquired forms of dilated cardiomyopathy, left ventricular noncompaction) are discussed. Moreover, the diagnostic issues in SCD victims affected by phenotype-negative hypertrophic cardiomyopathy and the relationship between myocardial bridging and hypertrophic cardiomyopathy are analyzed. Finally, the applications\/limits of virtopsy and post-mortem genetic testing in this field are discussed, with particular attention to the issues related to the assessment of the significance of the genetic variants.<\/jats:p>","DOI":"10.3390\/ijms22084124","type":"journal-article","created":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T10:20:11Z","timestamp":1618568411000},"page":"4124","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2420-6658","authenticated-orcid":false,"given":"Simone","family":"Grassi","sequence":"first","affiliation":[{"name":"Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5298-5276","authenticated-orcid":false,"given":"Oscar","family":"Campuzano","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Cardiovascular Genetics Center, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica Girona (IDIBGI), University of Girona, 17190 Girona, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f2nica","family":"Coll","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Cardiovascular Genetics Center, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica Girona (IDIBGI), University of Girona, 17190 Girona, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cazzato","sequence":"additional","affiliation":[{"name":"Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6857-8904","authenticated-orcid":false,"given":"Georgia","family":"Sarquella-Brugada","sequence":"additional","affiliation":[{"name":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain"},{"name":"Arrhythmias Unit, Hospital Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Arena","sequence":"additional","affiliation":[{"name":"Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00147 Rome, Italy"},{"name":"Istituto di Anatomia Patologica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep","family":"Brugada","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Arrhythmias Unit, Hospital Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"},{"name":"Institut Cl\u00ednic Cardiovascular (ICCV), Hospital Cl\u00ednic, Universitat de Barcelona, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Brugada","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Cardiovascular Genetics Center, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica Girona (IDIBGI), University of Girona, 17190 Girona, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7112-9096","authenticated-orcid":false,"given":"Antonio","family":"Oliva","sequence":"additional","affiliation":[{"name":"Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. 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