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.

Grassi, S., Campuzano, O., Coll, M., Cazzato, F., Sarquella-Brugada, G., Rossi, R., Arena, V., Brugada, J., Brugada, R., Oliva, A., Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies, <<INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES>>, 2021; 22 (8): 4124-4143. [doi:10.3390/ijms22084124] [https://hdl.handle.net/10807/177444]

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

Grassi, Simone;Cazzato, Francesca;Rossi, Riccardo;Arena, Vincenzo;Oliva, Antonio
2021

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.
2021
Inglese
Grassi, S., Campuzano, O., Coll, M., Cazzato, F., Sarquella-Brugada, G., Rossi, R., Arena, V., Brugada, J., Brugada, R., Oliva, A., Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies, <<INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES>>, 2021; 22 (8): 4124-4143. [doi:10.3390/ijms22084124] [https://hdl.handle.net/10807/177444]
File in questo prodotto:
File Dimensione Formato  
ijms-22-04124.pdf

accesso aperto

Tipologia file ?: Versione Editoriale (PDF)
Licenza: Creative commons
Dimensione 2.92 MB
Formato Adobe PDF
2.92 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/177444
Citazioni
  • ???jsp.display-item.citation.pmc??? 9
  • Scopus 18
  • ???jsp.display-item.citation.isi??? 15
social impact