Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies

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 d...

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Authors: Grassi, Simone, Campuzano Larrea, Oscar, Coll Vidal, Mònica, Cazzato, Francesca, Sarquella Brugada, Geòrgia, Rossi, Riccardo, Arena, Vincenzo, Brugada Terradellas, Josep, Brugada, Ramon, Oliva, Antonio
Format: article
Status:Published version
Publication Date:2021
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10256/20309
Online Access:http://hdl.handle.net/10256/20309
Access Level:Open access
Keyword:Miocardi -- Malalties
Myocardium -- Diseases
Mort sobtada
Sudden death
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spelling Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in CardiomyopathiesGrassi, SimoneCampuzano Larrea, OscarColl Vidal, MònicaCazzato, FrancescaSarquella Brugada, GeòrgiaRossi, RiccardoArena, VincenzoBrugada Terradellas, JosepBrugada, RamonOliva, AntonioMiocardi -- MalaltiesMyocardium -- DiseasesMort sobtadaSudden deathInherited 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’s 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 variantsThis work has been supported by Fondi di Ateneo, Linea D3.2—Project “Funzioni pubbliche, controllo privato. Profili interdisciplinari sulla governance senza governo della società algoritmica”, Università Cattolica del Sacro Cuore. This work was also supported by Obra Social “La Caixa Foundation” (LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002). CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and CompetitivenessMDPI (Multidisciplinary Digital Publishing Institute)2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionpeer-reviewedapplication/pdfhttp://hdl.handle.net/10256/20309http://hdl.handle.net/10256/20309International Journal of Molecular Sciences, 2021, vol. 22, núm. 8, p. 4124Articles publicats (D-CM)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/semantics/altIdentifier/doi/10.3390/ijms22084124info:eu-repo/semantics/altIdentifier/issn/1661-6596info:eu-repo/semantics/altIdentifier/eissn/1422-0067Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10256/203092026-05-29T05:05:01Z
dc.title.none.fl_str_mv Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
title Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
spellingShingle Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
Grassi, Simone
Miocardi -- Malalties
Myocardium -- Diseases
Mort sobtada
Sudden death
title_short Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
title_full Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
title_fullStr Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
title_full_unstemmed Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
title_sort Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
dc.creator.none.fl_str_mv Grassi, Simone
Campuzano Larrea, Oscar
Coll Vidal, Mònica
Cazzato, Francesca
Sarquella Brugada, Geòrgia
Rossi, Riccardo
Arena, Vincenzo
Brugada Terradellas, Josep
Brugada, Ramon
Oliva, Antonio
author Grassi, Simone
author_facet Grassi, Simone
Campuzano Larrea, Oscar
Coll Vidal, Mònica
Cazzato, Francesca
Sarquella Brugada, Geòrgia
Rossi, Riccardo
Arena, Vincenzo
Brugada Terradellas, Josep
Brugada, Ramon
Oliva, Antonio
author_role author
author2 Campuzano Larrea, Oscar
Coll Vidal, Mònica
Cazzato, Francesca
Sarquella Brugada, Geòrgia
Rossi, Riccardo
Arena, Vincenzo
Brugada Terradellas, Josep
Brugada, Ramon
Oliva, Antonio
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Miocardi -- Malalties
Myocardium -- Diseases
Mort sobtada
Sudden death
topic Miocardi -- Malalties
Myocardium -- Diseases
Mort sobtada
Sudden death
description 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’s 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
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
peer-reviewed
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10256/20309
http://hdl.handle.net/10256/20309
url http://hdl.handle.net/10256/20309
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.3390/ijms22084124
info:eu-repo/semantics/altIdentifier/issn/1661-6596
info:eu-repo/semantics/altIdentifier/eissn/1422-0067
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI (Multidisciplinary Digital Publishing Institute)
publisher.none.fl_str_mv MDPI (Multidisciplinary Digital Publishing Institute)
dc.source.none.fl_str_mv International Journal of Molecular Sciences, 2021, vol. 22, núm. 8, p. 4124
Articles publicats (D-CM)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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