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...
| Autores: | ; ; ; ; ; ; ; ; ; |
|---|---|
| Tipo de documento: | Artículo |
| Estado: | Published version |
| Fecha de publicación: | 2021 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:10256/20309 |
| Acceso en línea: | http://hdl.handle.net/10256/20309 |
| Nivel de acceso: | Acceso abierto |
| Palabra clave: | Miocardi -- Malalties Myocardium -- Diseases Mort sobtada Sudden death |
| _version_ | 1878742027091312640 |
|---|---|
| author | Grassi, Simone |
| 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 |
| author_browse | Arena, Vincenzo Brugada Terradellas, Josep Brugada, Ramon Campuzano Larrea, Oscar Cazzato, Francesca Coll Vidal, Mònica Grassi, Simone Oliva, Antonio Rossi, Riccardo Sarquella Brugada, Geòrgia |
| 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 |
| collection | Recercat. Dipósit de la Recerca de Catalunya |
| 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 |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_eef8d8c3ca2cc521c6e2b2d239d0cf3b |
| institution | 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) |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:recercat.cat:10256/20309 |
| publishDate | 2021 |
| publishDateSort | 2021 |
| publisher | MDPI (Multidisciplinary Digital Publishing Institute) |
| publisherStr | MDPI (Multidisciplinary Digital Publishing Institute) |
| reponame_str | Recercat. Dipósit de la Recerca de Catalunya |
| spelling | Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies Grassi, Simone Campuzano Larrea, Oscar Coll Vidal, Mònica Cazzato, Francesca Sarquella Brugada, Geòrgia Rossi, Riccardo Arena, Vincenzo Brugada Terradellas, Josep Brugada, Ramon Oliva, Antonio Miocardi -- Malalties Myocardium -- Diseases Mort sobtada Sudden death 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 This 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 Competitiveness MDPI (Multidisciplinary Digital Publishing Institute) http://hdl.handle.net/10256/20309 |
| 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 |
| status_str | publishedVersion |
| title | 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_short | 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 |
| topic | Miocardi -- Malalties Myocardium -- Diseases Mort sobtada Sudden death |
| topic_facet | Miocardi -- Malalties Myocardium -- Diseases Mort sobtada Sudden death |
| url | http://hdl.handle.net/10256/20309 |