Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
dc.contributor.author
dc.date.accessioned
2022-01-12T08:47:08Z
dc.date.available
2022-01-12T08:47:08Z
dc.date.issued
2021-04-16
dc.identifier.issn
1661-6596
dc.identifier.uri
dc.description.abstract
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
dc.description.sponsorship
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
dc.format.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
dc.relation.isformatof
Reproducció digital del document publicat a: https://doi.org/10.3390/ijms22084124
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International Journal of Molecular Sciences, 2021, vol. 22, núm. 8, p. 4124
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Articles publicats (D-CM)
dc.rights
Attribution 4.0 International
dc.rights.uri
dc.title
Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.identifier.idgrec
033945
dc.type.peerreviewed
peer-reviewed
dc.identifier.eissn
1422-0067