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

Riccardo Rossi, Vincenzo Arena, Antonio Oliva, Simone Grassi, Francesca Cazzato, Oscar Campuzano, Mònica Coll, Georgia Sarquella-Brugada, Josep Brugada, Ramon Brugada

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

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.
Lingua originaleEnglish
pagine (da-a)4124-4143
Numero di pagine20
RivistaInternational Journal of Molecular Sciences
Volume22
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • cardiomyopathies
  • sudden cardiac death
  • forensic autopsy
  • post-mortem genetic testing
  • virtopsy

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